tai lieu huong dan sang soc so sinh

SNG LC S SINH

TI LIU HNG DN

TRNG I HC Y DC HU

TRUNG TM SNG LC CHN ON TRC SINH & S SINH

2010

TRNG I HC Y DC HU

TRUNG TM SNG LC - CHN ON TRC SINH & S SINH

TI LIU HNG DN

SNG LC S SINH

Bin son

PGS. Ts. Bs. Nguyn Vit Nhn Trng B Mn Di Truyn Y Hc i Hc Y Dc Hu

Xin by t lng bit n n:

ng ng Vn Ngh, Ph V Trng V Dn S - K Hoch Ha Gia nh

Ts. Bs. Nguyn Th Kiu Nhi, B mn Nhi - i hc Y Dc Hu

Ts. Bs. Hong Thy Yn, B mn Nhi - i hc Y Dc Hu

ng gp nhng kin v cng qu bu gip hon thnh cun ti liu ny

2010

Li ni u

Ti liu ny c bin son nhm phc v cho chng trnh nng cao cht lng dn s thng qua xy dng v m rng h thng sng lc- chn on trc sinh v s sinh ti 7 tnh v thnh ph khu vc min Trung ca Tng Cc Dn S K Hoch Ha Gia nh, B Y T.

Ni dung ca ti liu cp n tt c nhng vn c bn lin quan n cng tc sng lc s sinh hai trng hp bnh l ph bin: thiu nng gip bm sinh v thiu men G6PD.

Hy vng cun sch nh ny s gp phn tng cng hiu qu trong cng tc o to v thc hnh ca lc lng cn b y t tham gia vo chng trnh.

PGS. TS. Cao Ngc Thnh

Hiu Trng Trng i Hc Y Dc Hu Gim c Trung Tm

Sng Lc Chn on Trc Sinh v S Sinh

MC LC

1. Sng lc s sinh pht hin cho con ca bn ................................ 1

2. Phng php ly mu mu gt chn tr s sinh .............................. 4

3. Nhng im cn lu khi ly mu mu kh .................................... 8

4. Thiu men G6PD .............................................................................. 12

5. Cn phi lm g khi con bn b vng da giai on s sinh? ........... 18

6. Quy trnh qun l tr c xc nh l thiu men G6PD .................. 21

7. Thiu nng gip bm sinh ................................................................ 23

8. Quy trnh qun l tr c xc nh mc bnh thiu nng gip bm sinh .................................................................. 26

9. Phiu theo di tr mc thiu nng gip bm sinh ............................ 28

10. Bo co cc kt qu sng lc v xt nghim xc nh chn on . 32

11. Bo co trng hp sng lc dng tnh ...................................... 33

12. Bo co xt nghim xc nh chn on dng tnh ..................... 34

13. Bo co tun chng trnh sng lc s sinh .................................. 35

Trung Tm Sng Lc Chn on Trc Sinh & S Sinh, i Hc Y Dc Hu

1

SNG LC S SINH PHT HIN BNH CHO CON CA BN

Sau sinh 48 gi, ch cn ly vi git mu gt chn ca b s gip pht hin mt s bnh c th gy ra nhng khuyt tt nng n cho b iu tr kp thi.

Mc ch ca vic xt nghim sng lc l pht hin nhng tr c nhiu kh nng mc bnh ch khng chnh xc tuyt i. Nhng tr c kt qu xt nghim sng lc l mc bnh u s c kim tra li. Xt nghim khng cho php pht hin tt c cc tr mc nhng bnh ny trong cng ng. Ti sao con ti nn tham gia chng trnh sng lc s sinh ? Vic kim tra git mu kh ly t gt chn tr s sinh c th gip pht hin cc bnh him gp nhng gy ra nhng hu qu rt nghim trng cho sc khe ca tr. Khi tham gia chng trnh sng lc s sinh, hu ht tr c sng lc u bnh thng nhng mt s t s c pht hin mc bnh. Nh c th iu tr sm cho tr, gip tr c mt cuc sng bnh thng khe mnh, trnh c nhng bin chng nguy him c th lm tr b khuyt tt hoc gy cht.

Tr s sinh c sng lc tm ra nhng bnh no ? Chng trnh sng lc hin nay cho php pht hin tr mc bnh thiu nng tuyn gip bm sinh v thiu men G6PD.

Th no l thiu nng tuyn gip bm sinh ? Cc tr mc bnh ny do khng c mt loi ni tit t ca tuyn gip nm pha trc c c tn gi l Tyrxin (thyroxine). Trong khong t 2500 n 5000 tr s sinh s c 1 tr mc bnh ny. Tr mc bnh s pht trin bt thng, tr tu chm pht trin v tr thnh tr b khuyt tt rt nng. Nu c pht hin sm qua sng lc tr s c iu tr bng cch b sung ni tit t Tyrxin nh tr s khng b bnh v s pht trin bnh thng nh nhng tr khc. Nu tr khng c pht hin thi k s sinh hoc c pht hin qu mun khi qu tr iu tr, vic iu tr s khng hiu qu v khng gip tr trnh c tnh trng khuyt tt . Th no l thiu men G6PD ? Thiu men G6PD (Glucose-6-phosphatase dehydrogenase) l mt bnh di truyn v men rt ph bin ngi. Trn th gii c trn 400 triu ngi mc bnh ny.


2

y l mt bnh di truyn do tr nhn gen bt thng nm trn nhim sc th (NST) gii tnh X t b (mang cp NST gii tnh XY) hoc m (mang cp NST gii tnh XX). Nu l con trai, tr s d mc bnh hn do ch c 1 NST X. Nu l con gi, do c 2 NST X, nn tr ch mc bnh khi nhn 2 gen bt thng, mt t b v mt t m v vy con trai mc bnh ph bin hn con gi. Men G6PD c hng cu trong mu sn xut, bnh thng men ny gip bo v hng cu khi b tn cng bi cc cht oxy ha. Khi tr b thiu men ny, hng cu s b ph hy do cc cht oxy ha c trong thc n hoc mt s thuc gy ra tnh trng thiu mu do tan huyt (v hng cu). Tnh trng ny s

lm tng lng bilirubin trong mu lm tr b thiu mu km theo vng da, vng mt. Nu tr b vng da nng, nht l trong 2 tun u trong thi k s sinh, tr s c th b tn thng no gy ra bi no, chm pht trin tm thn. Nu c pht hin sm qua sng lc tr s c theo di tnh trng vng da s sinh v c khuyn co trnh tip xc hoc s dng cc thc n, dc phm c th gy ra tnh trng oxy ha mnh gy hu qu nng n cho sc khe. Khng ai trong gia nh ti mc bnh ny ti sao con ti phi lm xt nghim sng lc ? Bnh thiu nng tuyn gip bm sinh c th xy ra ngu nhin cho bt c tr no do khng nht thit phi c ngi trong gia nh mc bnh, v vy d khng c ngi thn no mc bnh ny tr vn cn c xt nghim loi tr kh nng mc bnh. i vi bnh thiu men G6PD, tr c th c b mc bnh, m bnh thng hoc c hai b m u bnh thng nhng m c mang 1 gen bnh (do m c 2 NST X nn khi ch mt NST X mang gen bnh m s khng b bnh) do d b m v ngi thn khng ai mc bnh nhng tr, nht l tr nam, c th nhn 1 gen bnh t ngi m bnh thng nhng mang gen bnh v b thiu men G6PD v vy tt c cc tr u cn c xt nghim sng lc pht hin tnh trng thiu men G6PD.

Nhn vin y t s ly mu sng lc nh th no ? 48 gi sau khi sinh, nhn vin y t s dng mt kim chch c bit ly vi git mu gt chn ca tr thm ln trn mt t giy thm c bit gi n trung tm xt nghim. Vic ly mu c th lm tr kh chu i cht v khc nhng thc t nhn vin y t ch ly rt t mu, khng mt nhiu thi gian v tr s khng b nh hng g. Trc khi ly mu, nhn vin y t s hi mt s thng tin lin quan n a ch, s in thoi, tn ca m in vo phiu ly mu mu. y l nhng thng tin rt quan trng lin h vi gia nh khi c kt qu xt nghim v

vy nn a ra nhng thng tin chnh xc hoc yu cu nhn vin y t kim tra li chnh xc ca nhng thng tin ghi trn phiu.


3

Ti c th gip cho vic ly mu tr d dng hn khng? Bn c th h tr nhn vin y t khi ly mu gt chn ca tr bng cch:

m p v gi m cho b. Dng khn tm nc m khong 41- 42oC vt kh

gt chn ca tr trong khong t 3 5 pht trc khi ly mu.

Vi s gip ny s gip cho vic ly mu d dng v thun li hn rt nhiu.

Con ti c cn ly mu thm mt ln na khng? Trong mt s t trng hp nhn vin y t c th gh nh bn v ngh ly li mu mu gt chn ca tr. iu ny xy ra khi mu mu c ly ln th nht khng hoc kt qu khng r rng, tr sinh non hoc c truyn mu trc khi ly mu ln th nht. Nhn vin y t s gii thch r rng cho bn. Bn khng nn lo lng v hu ht xt nghim lp li u cho kt qu bnh thng.

Vic ly mu sng lc c phi l bt buc hay khng? Vic ly mu xt nghim nhm pht hin cc bnh bm sinh l ht sc cn thit nhng khng bt buc v hon ton t nguyn. Nu bn khng mun ly mu ca tr sng lc bn c th t chi.

Lm th no ti c th bit c kt qu sng lc ? Hu ht tr u c kt qu bnh thng do trong vng 7 10 ngy nu khng thy nhn vin y t lin h vi gia nh th chc chn con bn c kt qu bnh thng. Nu kt qu cho thy con bn mc bnh, nhn vin y t s lin h trc tip vi gia nh hoc qua in thoi: Nu tr b thiu nng tuyn gip bm sinh, cha m s c gii thiu a tr n khm mt bc s chuyn khoa trc khi tr c 3 tun tui tin hnh xc nh bnh v iu tr. Nu tr b thiu men G6PD, cha m cng c gii thiu n mt bc s chuyn khoa tin hnh xc nh tnh trng thiu men, t vn trong vic s dng thc n v dc phm phng tnh trng tan huyt.

Sau khi xt nghim, mu mu kh ca con ti s c dng lm g ? Sau khi sng lc, mu mu kh ca tr s c lu gi ti thiu 5 nm nhm mc ch:

Kim tra li kt qu hoc lm mt s xt nghim khc theo yu cu ca bc s. ci tin chng trnh sng lc. nghin cu gip ci thin sc khe ca tr em v gia nh Vit nam.

Nhng nghin cu ny s gi b mt thng tin ca tr v gia nh. n


4

PHNG PHP LY MU MU GT CHN TR S SINH (*)

Ly mu mu gt chn ng phng php s khng gy tn thng cho b v m bo tnh chnh xc ca cc kt qu xt nghim sng lc

(*)Ti liu c bin son da trn hng dn ly mu mu gt chn tr s sinh trong sng lc s sinh ca hng WHATMAN.

Bc 1

Bc 2

Chun b cc dng c cn thit:

Giy ly mu Kim chch mu v trng c u kim

di khong 2 mm Bng tm cn st trng Gc kh v trng Gng v trng loi khng bt

Khn tm nc m (do ngi nh chun b)

in y thng tin vo giy ly mu. Ch khng lm bn cc vng trn trn phn giy thm thm mu, khng ng chm vo phn giy thm trc hoc sau khi ly mu

Bc 3

Bc 4

Vng c nh du (///////////////) l vng trch mu an ton trn gt chn ca tr.

Dng khn tm nc m khong 41oC gt chn ca tr trong khong t 3 5 pht


5

Bc 5

Bc 6

Dng bng tm cn st trng st trng vng trch mu trn gt chn ca tr, sau khi st trng dng gc kh v trng lau kh vng trch mu.

Dng kim trch mu gt chn, dng gc kh v trng thm b git mu u. lm tng lng mu chy, bp RT NH NHNG v cch qung ln gt chn tr phn quanh ch trch mu cc git mu sau chy u v c kch thc LN hn.

Bc 7

Bc 8

Chm nh giy thm vo git mu LN t pha MT SAU vng trn. git mu thm qua v thm u vng trn ch bng MT LN chm DUY NHT ln git mu LN. Ch c thm mu trn mt pha ca giy thm.

Thm cc vng trn khc trn giy thm theo cch thc hng dn trong bc 7 nu cc git mu ra u v ln. Nu mu khng chy na, tip tc thc hin t bc 5 n bc 7. Sn sc v tr chch trn gt chn tr sau khi ly mu.

Bc 9

Bc 10

giy ly mu mu ln mt mt phng sch s, kh v khng thm nc trong t nht 4 ting ng h.

Gi giy ly mu ti Phng xt nghim trung tm trong vng 24 ting ng h t khi ly mu.


6

MU MU T CHUN

C lng mu thm u v ph khp cc vng trn in trn giy thm. Khng c nhiu lp mu hay p mu giy thm ly mu nhiu ln trn cng mt vng trn. Khng ng chm trn mu giy thm hoc dn git mu trn mu giy thm.

MU KHNG T CHUN C TH DO CC NGUYN NHN SAU:

1. Lng mu khng cho xt nghim.

Di chuyn giy thm trc khi mu thm u vng trn hoc trc khi mu thm qua mt bn kia ca t giy.

Cho mu ln giy thm bng ng mao qun. Tay mang gng hoc khng mang gng

chm ln trn giy thm trc hoc sau khi ly mu mu.

Chm mu giy thm trc hoc sau khi ly mu ln tay mang gng hoc khng mang gng hoc chm vo bt chng dnh gng tay hoc cc loi dung dch chi tay.

2. Mu mu thm nham nh trn giy thm.

Cho mu ln giy thm bng ng mao qun hoc bng cc dng c khc.

3. Mu mu khng kh trc khi em gi bu in.

Gi mu trc khi kh trong ti thiu 4 ting ng h

4. Mu c cc git mu thm lan sang c nhng git khc.

Cho qu nhiu mu ln mu giy thm,

thng khng phi thm mu t gt chn m nh mu ln giy thm bng dng c.

Cho mu thm trn c hai mt ca giy thm.


7

MU KHNG T CHUN C TH DO CC NGUYN NHN SAU:

5. Mu mu b pha long, mt mu hoc b nhim bn.

Thm phn dch tit vng quanh v tr trch mu.

Giy thm b chm vo tay mang gng hoc khng mang gng, hoc nhng cht nh cn, cc dung dch st trng, nc, dung dch chi tay hoc bt chng dnh gng tay v.v.. trc hoc sau khi ly mu

Mu mu b tip xc trc tip vi nhit

6. Mu mu c cc vng huyt thanh.

Khng chi kh cn gt chn tr trc khi trch mu.

giy thm chm vo cn, cc loi dung dch chi tay v.v...

Thm nhiu dch tit quanh v tr trch mu.

Lm kh mu khng ng quy cch. Nh mu ln giy thm bng ng mao

mch.

7. Mu mu b ng cc hoc to thnh lp.

Chm git mu nhiu ln ln cng mt

v tr trn giy thm. Thm mu y vng trn bng cch

thm mu trn c hai mt ca giy thm

8. Khng c mu

Khng ly c mu mu

Thng tin c ly t : Schleicher & Schuell Inc. 10 Optical Avenue Keene N.H. 03431 USA Tel. (603) 352-3810 Fax (603) 355-6524 Internet: http://www.s-and-s.com


8

NHNG IM CN LU KHI LY MU MU KH

i vi tr sinh ti bnh vin Vic ly mu mu c thc hin i vi tt c tr sinh sng ti bnh vin bi

cn b y t c hun luyn v cp giy chng nhn v k thut ly mu gt chn.

Phi c s ng thun ca gia nh tr, trc khi ly mu tr, cn cung cp cho gia nh tr t ri tuyn truyn v li ch ca vic sng lc s sinh

Vic ly mu phi c thc hin sau sinh 48 gi Nu tr cn phi truyn mu, th mu mu phi ly trc khi tr c truyn

mu. Mu mu phi ly trn mu giy thm ly mu do trung tm sng lc v chn

on trc sinh v s sinh tuyn trung ng cung cp. Phi ly mu t gt chn ca tr, khng c s dng mu dy rn. Bnh vin, nh h sinh, trm y t c trch nhim thc hin vic ly mu mu

ng quy nh, in y cc thng tin trn mu giy thm ly mu v gi n phng xt nghim trung tm.

i vi tr sinh ti nh

Vic ly mu mu s c thc hin ti gia nh tr bi cn b y t c hun luyn v cp giy chng nhn v k thut ly mu gt chn.

Phi c s ng thun ca gia nh tr, trc khi ly mu tr, cn cung cp cho gia nh tr t ri tuyn truyn v li ch ca vic sng lc s sinh.

Cc yu cc khc tng t nh i vi tr sinh ti bnh vin. i vi tr s sinh b m hoc non

Tr non l tr c cn nng di 2500 gram hoc tr c sinh trc 37 tun tui.

Tr m l tr ang c vn v sc khe, mc bnh. Mu mu c ly nh quy nh tr bnh thng nhng cn thn trng khi

trch mu (khng m kim qu 2mm) Nu tr cn phi truyn mu, mu mu phi c ly trc khi tr c truyn

mu, nu tr c truyn mu vic ly mu phi c thc hin sau khi truyn mu t 90 120 ngy.

Chun b trc khi ly mu

Kim tra hn s dng trn mu giy thm ly mu, khng s dng nu ht hn s dng.

in y thng tin c yu cu trn mu giy thm ly mu.


9

S dng bt bi in mu v nu s dng cc lot bt khc nh bt kim, bt d s khng in c ch vit ln t giy th hai pha di

Khng s dng con du ng du bnh vin thay cho vic in bng vit bi. Khng s dng my in in ln mu giy thm ly mu. Trnh ng chm ln vng giy thm ly mu (c in cc vng trn) trc,

trong hoc sau khi ly mu. Khng nc, thc n, cc dung dch st trng, cc dung dch chi tay, bt

ph trn gng tay v.v... dnh vo vng giy thm ly mu mu trc v sau khi ly mu.

Nhng vic cn lm trc khi ly mu

Kim tra li y cc thng tin ca tr c ghi trn giy ly mu m bo mi thng tin u chnh xc.

Ra tay sch trc khi ly mu. Mang gng, ch ch s dng loi gng khng c bt. Phi thay gng khi ly mu cho tr khc. Phi c thng cha chuyn dng ng kim trch mu sau khi s dng

Chun b v tr trch mu trn gt chn

Trc khi ly mu, hng dn ngi nh ca tr dng mt ming gc tm nc m khng qu 42oC ln trn gt chn ca tr trong khong 3 pht. Vic ny gip tng lng mu n gt chn v khng lm bng tr.

Nn chn tr nm thp hn v tr ca tim (m bng tr khi trch mu) s lm tng p lc tch mch gip cho vic ly mu mu thun li hn.

St trng v tr trch mu

St trng v tr trch mu trn gt chn bng cn 70o (t l isopropanol/ nc 70/30; 70%). da kh t nhin trc khi trch mu hoc dng gc v trng thm kh cn trn vng trch mu.

Trch mu

Trch mu bng kim trch mu v trng v tr quy nh (hnh v)

Kim trch mu phi bo m khng th chch su qu 2 mm v vt rch rng khong 1mm.

m bo an ton cho tr khng c dng kim tim hoc cc dng c khc ly mu.

i vi tr sinh non hoc thiu cn xng gt nm gn b mt da hn nn nu chch su khong 2mm c th lm tn thng xng gt ca tr do cn thn trng khi trch mu.


10

Thm mu gt chn

Sau khi gt chn tr c trch mu, dng gc hoc bng v trng thm b git mu u.

Ngi ly mu dng ngn ci bp nh gt chn ca tr tng t to iu kin hnh thnh git mu ln hn (ngng bp khi git mu c hnh thnh ln).

Chm nh nhng mt mt ca giy thm vo git mu ln cho mu thm u t mt ny sang mt kia trn ton b vng trn c in trn giy thm (khng chm giy nhiu ln khi thm trn mt vng trn), khi thm cn xem xt bo m mu thm u trn c hai mt giy thm.

Khng c giy thm ln trn ch trch mu v ch c thm t mt mt ca giy thm.

Trong qu trnh thm mu cn trnh bp qu mnh ln gt chn ca tr v s gy ra tnh trng tan huyt ca mu mu hoc lm dch m trn ln mu lm nh hng n kt qu phn tch.

Khng ly mu nhiu ln trn mt vng trn ca giy thm v s to thnh nhiu lp mu. Vic ly nhiu lp s lm mu kh khng ng u trn mu gy kh khn trong qu trnh phn tch v lm sai lch kt qu.

Sau khi ly mu xong, chn ca tr nn t v tr cao hn thn ca tr, dng bng hoc gc v trng p cht ln v tr trch mu cho n khi mu ngng chy. Khng nn dng bng dnh bng ln v tr trch mu.

Yu cu ca mu mu

Mi git mu c thm trn mi vng trn trn giy thm v c ly ng quy nh, nu khng s b loi trc khi phn tch.

Nu git mu khng ph kn vng trn trong mt ln ly hoc ln sang cc vng khc nn ly li mu mu trn mt vng khc hoc trn i t giy ly mu khc.

kh mu mu

Trnh chm hay ko trt trn cc mu mu. mu kh t nhin nhit phng trn mt mt phng ngang, khng

thm trong t nht 4 ting ng h. Trnh mu mu b mt tri chiu sng trc tip. Khng h nng mu mu, chng cc mu mu ln nhau hoc ng chm ln

trn mu mu. Mi t giy ly mu u c mt ming gp bo v mu mu, ming gp ny

s c y ln mu mu khi mu kh bo v chng khi b nhim bn. Ming gp ny c th c dng trong qu trnh lm kh mu mu bng cch dng n mu mu pha trn (hnh v). Khi mu mu kh, dng ming gp ny y trn mu mu.


11

Sp xp cc t giy ly mu vo phong b

Hin tng nhim bn cho c th xy ra khi cc mu mu nm chng ln nhau.

Trc khi cho cc t giy ly mu ca cc tr vo chung mt phong b gi phi m bo cc ming gp bo v phi c y ln mu mu trn mi t giy ly mu.

Trong trng hp ngi kh nng xy ra nhim bn cho gia cc mu mu hoc khng c ming gp bo v nn t cc t giy ly mu mu ngc chiu nhau khi t chung trong mt phong b.

Gi mu v phng xt nghim trung tm

Mu mu kh phi c gi v phng xt nghim trung tm trong vng 24 ting ng h sau khi ly mu.

Khng c s dng phong b trng nha hoc cc phong b ng mu trong ti nha. n


12

THIU MEN G6PD

Nhng thng tin di y gip cc bn hiu c th no l tr b thiu men G6PD v nhng vn cn quan tm trong qu trnh pht trin ca tr.

Th no l thiu men G6PD ? Thiu men G6PD (Glucose-6-phosphatase dehydrogenase) l mt bnh di truyn v men rt ph bin ngi. Trn th gii c trn 400 triu ngi mc bnh ny. Ngi b thiu men G6PD s b d ng rt nng khi n u tm1 (cc tn khc m cha m cn bit khi mua cc sn phm t loi u ny: Broad Bean, Fava Bean, Faba Bean, Field Bean, Bell Bean, Tic Bean).

(a) (b) (c)

(a) L v hoa ca cy u tm ; (b) Ht v v u tm ; (c) Qu u tm sau thu hoch.

(a) (b)

(a) Ht u tm c bn n di dng snack ; (b) Ht u tm sau khi hp khong 3 pht.

1 Tn u tm c gi trong cc ngn ng khc : A rp: Foolle ; Trung quc: Tzan-Doo ; H lan: Tuinboon ; Iran: Ba-ghe-Leh ; Anh: Fava hay Broad Bean ; Php: Fve ; c: Favabohnen, Dicke Bohnen, Saubohnen ; Hy lp: Koukia ; : Fava (s nhiu: fave) ; Malaxia: Kacang Kuda ; Ty ban nha: Haba ; Th nh k: Bakla ; Pakixtan v n : Lobhiya, Rajma, Jheam.


13

y l mt bnh di truyn do tr nhn gen ln bt thng nm trn nhim sc th (NST) gii tnh X t b (mang cp NST gii tnh XY) hoc m (mang cp NST gii tnh XX). Nu l con trai, tr s d mc bnh hn do ch c 1 NST X. Nu l con gi, do c 2 NST X, nn tr ch mc bnh khi nhn 2 gen bt thng, mt t b v mt t m v vy con trai thng mc bnh ph bin hn con gi.

Hn nhn ca ngi b bnh thng, NST khng mang gen bnh (c) v m bnh thng nhng mang mt gen bnh (XXc). Trong s con ca h s c l con trai mc bnh (XcY), l con gi hon ton bnh thng khng mang gen bnh (XX), l con gi bnh thng nhng mang gen bnh (XXc) v con trai hon ton bnh thng (XY)

Lm th no chn on sm thiu men G6PD tr s sinh ? Tt c cc tr s sinh s c xt nghim sm pht hin mt s bnh bm sinh trong c trng hp thiu men G6PD bng cch ly mt git mu kh gt chn tr gi i phn tch. Nu kt qu xt nghim cho thy tr b thiu men G6PD tr s c theo di v t vn bi mt bc s chuyn khoa v c thc hin thm xt nghim xc nh chc chn tr c b thiu men G6PD tht s hay khng.

iu g s xy ra nu con bn b thiu men G6PD? Men G6PD c hng cu trong mu sn xut, bnh thng men ny gip bo v hng cu khi b tn cng bi cc cht oxy ha. Khi tr b thiu men ny, hng cu s b ph hy do cc cht oxy ha c trong thc n (trong ht u tm, c bit khi cha nu chn, c cha nhiu cht oxy ha nh vicine, isouramil v convicine, l nhng cht oxy ha) hoc mt s thuc gy ra tnh trng thiu mu do tan huyt (do v hng cu) tnh trng ny s lm tng lng bilirubin trong mu lm tr b thiu mu km theo vng da, vng mt. Nu tr

Tr s sinh b vng da

Ly mu gt chn ca tr phn tch


14

b vng da nng, nht l trong 2 tun u trong thi k s sinh, tr s c th b tn thng no gy ra bi no, chm pht trin tinh thn v vn ng.

Tnh trng thiu mu tan huyt v vng da s sinh ko di l hai vn nghim trng m tr b thiu men G6PD gp phi. C hai tnh trng ny u lin quan trc tip n vic mt kh nng ti to mt loi phn t c tn l NADPH (nicotinamide adenine dinucleotide phosphate) khi n b kh bi cc cht oxy ha. Kh nng ny bnh thng c men G6PD xc tc v vy khi c th b thiu men G6PD s dn n cc tnh trng bt thng trn.

Tr trng hp vng da s sinh, tnh trng tan huyt ch xy ra ngi b thiu men G6PD khi s dng hoc tip xc vi mt s loi thc n, ha cht hoc dc phm nht nh, cn khng th ngi ny hon ton c cuc sng bnh thng.

Nu c pht hin sm qua sng lc tr s c theo di tnh trng vng da s sinh v c khuyn co trnh tip xc hoc s dng cc thc n, dc phm c th gy ra tnh trng oxy ha mnh gy hu qu nng n cho sc khe. V vy nu bn hoc con bn c chn on thiu men G6PD, cn ni cho nhn vin y t bit tnh trng ny h trnh k n nhng loi thuc c th gy ra nhng phn ng nguy him lm nh hng nng n n sc khe ca bn hoc con bn.

Hu qu ca tnh trng thiu mu tan huyt s nh th no? Tnh trng thiu mu tan huyt s lm gim kh nng ca hng cu vn chuyn oxy cung cp cho hot ng sng ca c th v vy khi tnh trng thiu mu tan huyt xy ra ngi b thiu men G6PD s cm thy rt mt mi, th gp v c th c nc tiu mu vng sm. Mt s loi thuc oxy ha, tnh trng nhim trng, hoc khi n u tm s gy ra tnh trng trn.

Khi c bt c mt trong s nhng cht trn i vo trong hng cu, s lm cho huyt cu t (hmglbin) trong hng cu b bin tnh lm mt chc nng ca hng cu do huyt cu t l thnh phn chnh vn chuyn oxy trong c th.

Khi b thiu mu tan huyt ty theo tnh trng bnh m bc s iu tr s cho bn th oxy, ngh ngi, truyn mu, ung cc thuc c tc dng kch thch sn sinh hng cu nh acid folic v.v...

Nhng trng hp no s lm nh hng n sc khe ca ngi b thiu men G6PD? Bnh thng ngi b thiu men G6PD s c cuc sng hon ton bnh thng, tuy nhin sc khe ca h s b nh hng nghim trng khi s dng mt s loi thc n, dc phm c kh nng oxy ha. Thng thng tnh trng ny xy ra do nhng nguyn nhn sau:

Tr b bi no


15

B bnh, k c nhng bnh do nhim trng hoc nhim virt.

Ung mt s loi thuc gim au, h st c cha aspirin hoc phenacetin.

Cc loi khng sinh thuc nhm sulfonamide v sullfone.

Cc thuc khng st rt nh quinine, chloroquine, primaquine v cc loi thuc khng st rt khc m trong tn gi c ch quine.

Mt s loi thuc hay s dng nh vitamin K, xanh mthylen dng trong iu tr nhim trng ng tiu.

n mt s thc n lm t u tm.

Tip xc vi mt s cht gy oxy ha nh vin long no (bng phin). Cc bc s s cho bn mt danh sch cc thuc cn trnh s dng.

Thiu men G6PD c ly cho ngi khc khng?

Thiu men G6PD l mt khim khuyt di truyn v vy n khng th ly cho ngi khc khi tip xc vi ngi b thiu men G6PD. V y l khim khuyt di truyn nn khng th iu tr c.

Nu ti mc Bnh thiu men G6PD, kh nng truyn bnh ny cho con ti s nh th no?

(a) (b) (c)

(a) B bnh thng, m bnh thng nhng mang gen bnh (*) ; (b) B b thiu men G6PD, m hon ton bnh thng ; (c) B thiu men G6PD,

m bnh thng nhng mang gen bnh.

(*) NST X mang gen bnh c k hiu trong ngoc n (X)

(a) Nu b khng b bnh v m l ngi bnh thng nhng mang gen bnh:

Kh nng sinh con gi b thiu men G6PD: 0% Kh nng sinh con gi bnh thng nhng mang gen: 50% Kh nng sinh con trai b thiu men G6PD: 50% Kh nng sinh con trai hon ton bnh thng: 50%


16

(b) Nu b b thiu men G6PD v m hon ton bnh thng (khng mang gen bnh):

Kh nng sinh con gi b thiu enzym G6PD: 0% Kh nng sinh con trai b thiu enzym G6PD: 0% Kh nng sinh con gi bnh thng nhng mang gen bnh thiu men G6PD:

100%

(c) Nu b b thiu men G6PD v m bnh thng nhng mang gen bnh:

Kh nng sinh con gi b thiu men G6PD: 50% Kh nng sinh con gi bnh thng nhng mang gen: 50% Kh nng sinh con trai b thiu men G6PD: 50% Kh nng sinh con trai hon ton bnh thng: 50%

Cc triu chng ca tnh trng thiu mu tan huyt nh th no ? Khi b tnh trng tan huyt, bn s cm tht rt mt, th gp, tim p khng u v nc tiu c th c mu nu sm.

Ngi b thiu men G6PD c th hin mu khng? Khng ! Ngi b thiu men G6PD khng nn hin mu.

Cn phi lm g khi con bn b thiu men G6PD? Khi con bn b thiu men G6PD cn nh:

Khng s dng cc loi dc phm, thc n hoc nhng cht c th gy tan huyt.

Nh nhc nhn vin y t v tnh trng thiu men G6PD ca tr.

Khng s dng long no (bng phin) cho vo t qun o, chn mm, ging gi do c cha naphthalen l mt cht oxy ha.

Cn cnh gic vi mt s loi thuc nam, thuc ng y v cc loi u v c th cha cht oxy ha.

Cc b m cho con b khng c s dng nhng thc n hoc dc phm khng c s dng ngi b thiu men G6PD v nhng cht ny c th i vo c th tr qua sa m.

Khng nn t mua thuc cho tr m phi hi kin ca bc s. Nu tun theo hng dn ny con bn s c mt cuc sng hon ton bnh thng.

Vin long no (bng phin)


17

CC LOI THUC CN TRNH V CC LOI THUC C TH S DNG NGI B THIU MEN G6PD

Cc loi thuc cn trnh An ton khi s dng

Gim au / H st acetanilid, acetophenetidin (phenacetin), amidopyrine (aminopyrine) *, antipyrine *, aspirin *, phenacetin, probenicid, pyramidone

Thuc khng st rt chloroquine *, hydroxychloroquine, mepacrine (quinacrine), pamaquine, pentaquine, primaquine, quinine *, quinocide

Thuc c t bo / Khng khun chloramphenicol, co-trimoxazole, furazolidone, furmethonol, nalidixic acid, neoarsphenamine, nitrofurantoin, nitrofurazone, para-aminosalicylic acid

Thuc tim mch procainamide *, quinidine *

Sulfonamides / Sulfones dapsone, sulfacetamide, sulfamethoxypyrimidine, sulfanilamide, sulfapyridine, sulfasalazine, sulfisoxazole

Cc loi thuc khc alpha-methyldopa, ascorbic acid (Vitamin C) *,dimercaprol (BAL), hydralazine, mestranol, methylene blue, nalidixic acid, naphthalene, niridazole, phenylhydrazine, toluidine blue, trinitrotoluene, urate oxidase, vitamin K * (tan trong nc), pyridium, quinine *

An ton khi s dng nhng ch vi liu iu tr bnh thng (**).

Acetaminophen (paracetamol, Tylenol, Tralgon, hydroxyacetanilide), Acetophenetidin (phenacetin), Acetylsalicylic acid (aspirin) *, Aminopyrine (Pyramidon, amidopyrine) *, Antazoline (Antistine), Antipyrine *, Ascorbic acid (vitamin C) *, Benzhexol (Artane), Chloramphenicol, Chlorguanidine (Proguanil, Paludrine), Chloroquine *, Colchicine, Diphenhydramine (Benadryl), Isoniazid, L-Dopa, Menadione sodium bisulfite (Hykinone), Menapthone, p-Aminobenzoic acid, Phenylbutazone, Phenytoin, Probenecid (Benemid), Procain amide hydrochlonde (Pronestyl) *, Pyrimethamine (Daraprim), Quinidine *, Quinine *, Streptomycin, Sulfacytine, Sulfadiazine, Sulfaguanidine, Sulfamerazine, Sulfamethoxypyridazine (Kynex), Sulfisoxazole (Gantrisin), Trimethoprim, Tripelennamine (pyribenzamine), Vitamin K *.

(*): Nhng thuc ny c mt c hai mc, tt nht l nn trnh s dng. Trong trng hp cn thit phi s dng ch c s dng liu iu tr bnh thng.

(**): Trch dn t Ernest Beutler, Glucose-6- Phosphate Dehydrogenase Deficiency, in Erythrocyte disorders: Anemias due to increased destructionof erythrocytes with enzyme deficiencies, p. 598.


18

Cn phi lm g khi con bn b vng da giai on s sinh?

Tnh trng vng da s sinh l mt tnh trng c gp ph bin tt c cc tr s sinh nhng nu tnh trng ny ko di cn phi lu ti kh nng tr b thiu men G6PD.

Vng da l g ? Vng da l tnh trng da v mt ca tr chuyn qua mu vng. Mu vng u tin s xut hin mt, sau ngc, bng v cui cng l bn tay, bn chn. Tnh trng vng da thng c gp trong khong 60% tr sinh thng v khong 80% tr sinh thiu thng trong tun u ca i sng. C th d nhn thy tnh trng vng da tr bng cch dng u ngn tay n nh ln trn tr sau th ra, nu tr b vng da s thy mu vng ca da ch mi b n r hn so vi chung quanh. Nn quan st di nh sng t nhin trnh nhm ln.

Ti sao tr b vng da? Tr b vng da do c qu nhiu sc t mt mu vng trong mu, sc t ny c gi l bilirubin.

Bilirubin i vo mu nh th no? Bnh thng bilirubin i vo mu theo cch nh sau:

1. Hng ngy, trong iu kin bnh thng, u c mt s hng cu trong mu b ph hy.

2. Cc hng cu b ph hy s gii phng bilirubin khng kt hp trong mu. 3. Gan khe mnh s chng bin bilirubin khng kt hp thnh bilirubine kt hp

tan c trong nc khng gy c cho c th ra khi mu. 4. Cht khng c ny s c a ra ngoi qua phn v nc tiu.

Bnh thng bilirubin khng lu trong mu do khng lm nh hng n sc khe ca tr.


19

Nguyn nhn no gy ra vng da tr s sinh? C nhiu nguyn nhn gy ra vng da tr s sinh. iu quan trng l cn bit l trng hp no l rt nghim trng v cn sn sc ti bnh vin. Nhng trng hp gm c cc ri lon bm sinh, nhim khun hoc nhim virt, ng c thuc, bt thng ca gan. Tuy nhin c mt s nguyn nhn ph bin sau:

Vng da sinh l do gan cha hon thin chc nng.

Tnh trng ny xy ra trong tun u ca i sng do gan khng th chuyn ha nhanh bilirubin khng kt hp, tuy nhin tnh trng ny ch c tnh cht nht thi v gan s hon thin chc nng sau vi tun, V bnh thng tnh trng vng da s bin mt sau mt tun tr sinh thng v 3 tun tr sinh thiu thng. .

Thiu men G6PD

Men G6PD gip tng cng s bn vng ca mng hng cu. Khi men ny b thiu ht, hng cu s d b ph v lm sn sinh nhiu bilirubin khng kt hp do tt c cc tr s sinh cn c xt nghim sng lc pht hin tnh trng thiu men G6PD.

B sa m

Sa m c cha ni tit t (hoocmn) lm kch hot gene t bin c lin quan vi gene m ho G6PD lm chm qu trnh ging ha ca bilirubin, nhng tnh trng ny ch xy ra tm thi, khi gan ca tr tr nn hon thin s gii quyt c tnh trng ny. Khng nn ngng cho b m d tnh trng ny xy ra.

Khng tng ng nhm mu

Tnh trng ny cng gy ra s ph v hng cu.

Tnh trng vng da c th xut hin theo mt trong hai cch sau:

Bnh thng

Mt lng hng cu nht nh b ph v gii phng mt lng bilirubin khng kt hp, gan cha hon thin ca tr s sinh khng th gii quyt lng bilirubin khng kt hp ny, khi lng bilirubin khng kt hp vt qu nng bnh thng s gy ra vng da.

Thiu men G6PD

Tnh trng thiu men G6PD s lm cho nhiu hng cu b ph v hn bnh thng v do gii phng nhiu bilirubin hn. Gan ca tr s sinh d hon thin cng khng th ging ha ht lng bilirubin c gii phng lm nng bilirubin tng cao trong mu gy ra vng da. Nu tnh trng vng da nng, no ca tr s c th b tn thng lm tr b chm pht trin th cht v tm thn, trong trng hp nghim trng hn tr c th b bi no hay t vong.


20

Cn phi lm g khi tr b vng da? Khi tr b vng da bn cn lm nhng vic sau:

Chiu n bng nh sng xanh cho tr vng da nng

a tr ti khm bc s nhi khoa ngay lp tc kim tra xem tr cn nhp vin khng.

Nu tnh trng vng da nh v xy ra trong tun u ca tr, c l ch l vng da sinh l v bc s s khuyn bn theo di mc vng da ca tr bng cch n nh u ngn tay ca bn vo trn tr ri quan st tnh trng v mc vng da ca tr di nh sng t nhin.

Nu tr b vng da sinh l, tnh trng vng da s xut hin t 3 n 5 ngy sau sinh ri gim dn v t bin mt sau 7 ngy nu tr sinh thng v 3 tun nu tr sinh thiu thng.

Tnh trng vng da s tr nn nguy him nu vng da xut hin sm t ngy th nht sau sinh hoc t ngy th ba sau sinh vng xung n mu bn tay v bn chn. Khi tr cn phi nhp vin. Bin php iu tr ph bin l chiu n bng nh sng xanh cho tr. nh sng xanh gip y nhanh qu trnh kt hp nc ca bilirubin thnh cht tan c trong nc thi d dng qua nc tiu v phng trnh c tc dng hu hoi t bo thn kinh ca bilirubin khng kt hp.n


21

QUY TRNH QUN L TR C XC NH L THIU MEN G6PD

Tin lng Hu ht ngi b thiu men G6PD u khng cn phi iu tr.

Cnh bo

Tr thiu men G6PD c th b vng da nng v ko di c th lm tn thng no do cn c theo di v iu tr.

Mt s trng hp thiu men G6PD c th xy ra tnh trng thiu mu tan huyt nng do n thc n, s dng thuc hoc tip xc vi cc cht gy oxy ha.

Gio dc bnh nhn v gia nh

Gia nh ca ngi b thiu men G6PD v bn thn ngi ny cn c hng dn trnh cc thuc v tip xc vi nhng ha cht c th gy ra tnh trng thiu mu tan huyt.

Khi tr c chn on thiu men G6PD, nhn vin y t s cung cp t ri, danh sch thuc v ha cht cn trnh c in trn giy cng kh nh tin lu gi. Danh sch ny lun c sn v cung cp min ph ti cc c s y t c chng trnh sng lc s sinh.

B m ca tr b thiu men G6PD, ngi b thiu men G6PD cn thng bo ngay cho bc s tnh trng thiu men G6PD khi i khm bnh bc s trnh k toa cc thuc c th gy thiu mu tan huyt.

Lun lun gi bn mnh danh sch cc thuc khng c s dng v cc ha cht cn trnh tip xc.

Khng nn t dng thuc, cn hi kin ca bc s trc khi s dng thuc.

D phng

Trong bi Thiu men G6PD cp n cc thuc m ngi b thiu men G6PD cn trnh (trang 17), di y l mt s loi thuc v ha cht ph bin cn ch :

Khng dng cc thuc: - Primaquine, chloroquine, pamaquine v pentaquine: dng trong iu tr

st rt. - Nitrofurantoin: dng trong iu tr nhim khun ng tit niu.


22

- Nalidixic acid, ciprofloxacin, norfloxacin: thuc khng sinh nhm quinolon, chng vi khun a kh gram m.

- Niridazole: trc y c dng iu tr bnh sn mng (Schistosomiasis).

- Xanh methylene: c dng trong iu tr st rt, nhim c CO (carbon monoxide), KCN (kali cyanid).

- Chloramphenicol: khng sinh khng vi khun k kh gram m v gram dng.

- Phenazopyridine (pyridium): thng c phi hp vi khng sinh iu tr nhim trng ng tit niu do c tc dng gim au ti ch khi c bi tit qua ng tiu.

- Vitamin K: phng nga v iu tr xut huyt. - Vitamin C: thuc b - Cc loi khng sinh thuc h sulfonamide nh:

Sulfanilamide, sulfamethoxypyridazine, sulfadimidin, sulfa-pyridine, sulfamerazine: c tc dng khng khun.

Sulfacetamide: dng ngoi da iu tr mn, vim tuyn b. Sulfamethoxazole: thng c phi hp vi trimethoprim

(Bactrim) iu tr nhiu loi nhim trng. Trnh tip xc vi mt s ha cht nh:

- Vin long no (bng phin) - Naphthalene: dng tng hp vin long no v c s dng trong

nhiu lnh vc cng nghip khc. Cn phi hi kin bc s khi s dng cc thuc c lit k trong bng

trang 17. n


23

THIU NNG GIP BM SINH

Nhng thng tin di y gip cc bn hiu c th no l thiu nng tuyn gip bm sinh v cch thc iu tr c bn bnh ny.

Thiu nng tuyn gip bm sinh l g? y l mt bnh bm sinh lin quan n tuyn gip nm pha trc c. Tuyn gip sn xut ra mt loi ni tit t (cn c gi l hocmn) gi l Tyrxin rt cn thit cho s pht trin bnh thng ca c th. Nu tuyn gip khng sn xut Tyrxin s gy ra thiu nng tuyn gip. Nu tnh trng ny c mt ngay t khi sinh th c gi l thiu nng tuyn gip bm sinh.

Thiu nng tuyn gip bm sinh c chn on nh th no ?

Tt c cc tr s sinh cn c xt nghim sm pht hin thiu nng tuyn gip bm sinh bng cch ly mt git mu kh gt chn tr gi i phn tch. Nu kt qu xt nghim cho thy tr c kh nng b thiu nng tuyn gip bm sinh, tr s c khm bi mt bc s chuyn khoa v c thc hin thm xt nghim xc nh chc chn tr c b thiu nng tuyn gip tht s hay khng.

Tt c cc tr c xc nh l b thiu nng tuyn gip bm sinh s c siu m vng c xem tuyn gip c hay khng hoc nm ng v tr hay khng v nh gi kh nng hp th ca tuyn gip vi mt loi thuc c hiu qua cc bc s c th quyt nh phng thc iu tr ph hp.

Cc nh gi khc Mt s tr b thiu nng tuyn gip bm sinh c th c kh nng nghe b bt thng, v th tt c cc tr c chn on thiu nng tuyn gip bm sinh u cn c phn tch kh nng nghe vo khong 6 tun tui. Mc d tnh trng ny rt him gp nhng vn cn c theo di v pht hin sm.

Thiu nng tuyn gip c nhng triu chng nh th no? Nh sng lc s sinh bng mu mu ly t gt chn ca tr nn cc tr b thiu nng tuyn gip bm sinh c s chn on rt sm, trc khi xut hin cc triu chng ca bnh.


24

Nu tr khng c pht hin sm s xut hin cc triu chng: kh cho b, ng nhiu, to bn, vng da ..

Thiu nng tuyn gip bm sinh cn c chn on v iu tr sm sau sinh. Nu khng c pht hin v iu tr sm tnh trng thiu nng tuyn gip bm sinh s nh hng nghim trng n s pht trin tm thn, th cht v kh nng hc tp.

Nguyn nhn no gy ra thiu nng tuyn gip bm sinh v bnh ny c di truyn khng? Trong nhng thng u ca bo thai, khi cc c quan ca thai nhi ang pht trin, tuyn gip di chuyn t pha sau li ti v tr bnh thng ca n trc c. mt s tr s di chuyn ny khng xy ra v hu qu l tuyn gip khng th hot ng bnh thng, mt s tr khc c tuyn gip khng pht trin. Nu bn sinh mt a con b thiu nng tuyn gip thuc loi ny th nguy c sinh a con khc b tng t s rt thp. Tuy nhin c mt loi thiu nng tuyn gip bm sinh khc rt him gp, tuyn gip ca tr nm ng v tr ca n nhng khng th sn xut c Tyrxin, y l trng hp bt thng c tnh di truyn v do bn s c nguy c sinh mt a con khc mc bnh tng t.

Nu bn lo lng v vn di truyn ca bnh hy hi bc s iu tr cho con bn bit thm thng tin.

Thiu nng tuyn gip bm sinh c ph bin khng? Ti Vit nam, trung bnh t 2500 n 5000 tr s sinh s c mt tr mc thiu nng tuyn gip bm sinh. Bnh ph bin n hn nam.

Thiu nng tuyn gip bm sinh c iu tr nh th no? Thiu nng tuyn gip bm sinh c iu tr bng cch thay th ni tit t Tyrxin m c th khng th sn xut c. Tyrxin c bo ch di dng vin ung v cn phi ung hng ngy. Mc d vic qun ung thuc u n s khng ra nhng hu qu g ngay nhng tt nht l c gng m bo cho tr ung thuc u n hng ngy v nh c th duy tr nng Tyrxin n nh trong mu ca tr.

Trong hai nm u, tr cn c th mu u n kim tra nng Tyrxin trong mu, bc s s cn c kt qu ny iu chnh liu Tyrxin thch hp cho tng tr, nhng thay i liu lng Tyrxin ny l cn thit khi tr tng cn v pht trin. Khi tr c 2 hoc 3 tui, s ln th mu s c gim xung v khi vic tnh liu lng Tyrxin c da trn s pht trin ca tr.


25

Tr cn ung vin Tyrxin trong sut cuc i, vic ung thuc dn dn s tr thnh thi quen ca tr. Thuc lun c sn ti cc quy thuc v bn c th d dng mua theo n thuc ca bc s.

Vic iu tr c gy ra phn ng ph no khng ? V vin Tyrxin ch nhm thay th mt ni tit t bnh thng do tuyn gip sn xut, nn vic cho tr b thiu nng tuyn gip bm sinh ung Tyrxin ng liu hng ngy s khng gy ra phn ng ph no c. Tuy nhin nu tr ung liu Tyrxin qu thp s lm xut hin cc triu chng ca bnh thiu nng tuyn gip. Nu dng qu liu Tyrxin tr s b tiu chy, khng tng cn v nu dng qu liu trong mt thi gian di s lm tr pht trin nhanh hn bnh thng. Tuy nhin do liu lng lun c cc bc s tnh ton trong qu trnh iu tr nn nhng phn ng ph ny rt him khi xy ra.

Hnh dng bn ngoi ca tr mc thiu nng tuyn gip bm sinh nh th no? Tht kh c th d bo v vic pht trin ca tr v c rt nhiu yu t nh hng n qu trnh pht trin. Kinh nghim ca cc nc pht trin cho thy, hu nh tt c cc tr c chn on v iu tr sm u pht trin bnh thng. Tuy nhin vn c mt t l nh b thiu nng tuyn gip nng ngay t trong giai on bo thai c th gp mt s vn trong qu trnh pht trin nh nghe km, vng v, hc km. Nhng vn ny c th c gim thiu nu c tr c pht hin v iu tr sm. n


26

QUY TRNH QUN L TR C XC NH MC BNH THIU NNG GIP BM SINH

Vic iu tr s c bt u ngay sau khi c kt qu chn on xc nh dng tnh da trn nh gi nng T3, T4 v TSH trn mu mu c ly li ln th hai.

Tt c cc tr c xc nh mc tt thiu nng gip bm sinh s c siu m tuyn gip, nh gi kh nng hp thu iod phng x v nh gi tui xng (chp phim X quang u gi).

Cn lu l cc tr bnh thng trong nhng tun u sau sinh c nng T3 v T4 t do cao khi so snh vi nng bnh thng ngi trng thnh. Do tnh trng ny khng nh quan ngi khi nng ca TSH vn trong gii hn bnh thng v tr vn pht trin khe mnh.

Cn trnh ung L-thyroxine qu mc trong mt thi gian di, tr cn c kim tra nng TSH mt cch thng xuyn trnh nng TSH xung di mc cho php.

Ung T4 qu mc trong thi gian di, c th dn n tnh trng ng khp sm ca cc xng hp s (craniosynostosis) v st gim tr tu trong qu trnh pht trin ca tr. Nu nng TSH ca tr lun lun c duy tr trong gii hn bnh thng ca ngi trng thnh v khng nng TSH xung thp hn gii hn ny th tr c th trnh c cc bin chng trn.

QUY TRNH QUN L

Chun b

Thm khm lm sng v khai thc chi tit tin s.

Gii thiu n bc s nhi khoa chuyn v ni tit.

Siu m tuyn gip Thuc

L-T4: 10 15 mg/kg hng ngy, bng ng ung Gim st (mu I)

Kim tra li nng T4, TSH

2 4 tun sau khi bt u qu trnh iu tr


27

Mi 1 2 thng, trong 6 thng u

Mi 3 4 thng trong khong t 6 thng n 3 tui

Mi 6 12 thng t 3 tui cho ti khi ngng pht trin Mc ch iu tr

Bnh thng ha nng TSH v duy tr nng T4 v T4 t do (FT4) lun trong na gii hn trn ca gii hn bnh thng.

Theo di thiu nng gip trn i

Nu siu m tuyn gip cho thy khng c tuyn gip hoc tuyn gip lc ch.

Nu nng TSH ban u


28

I HC Y DC HU


PHIU THEO DI TR MC THIU NNG GIP BM SINH

S h s ca tr:

Tn tr: .......................................................................................... Gii: nam n Ngy sinh: ...... / ..... / 20 ..... Tui : ........... thng Tn m: ....................................................................................................................... a ch: ...................................................................................................................... S in thoi: ........................................................................ n v qun l: .......................................................................................................... a ch: ...................................................................................................................... Nhn vin y t qun l: .............................................................................................. in thoi lin lc: .................................................................. Bc s iu tr: .............................................................................................................. in thoi lin lc: ..................................................................

TIN S

Tr l m B km Da kh To bn Vng da ko di Cc du hiu khc: .......................................................................................................

KHM (Trc khi iu tr)

nh chp: Cn nng: Chiu di: Vng u: Mt to b: Li th: Da kh: Thp trc ln:

KT QU XT NGHIM

TSH sng lc : TSH lp li trn mu mu kh: Xc nh chc nng tuyn gip: T4: TSH: Siu m tuyn gip: Kh nng hp thu iod phng x: Tui xng (X quang u gi):

Liu L thyroxin:

MU I


29

THEO DI

Ngy bt u iu tr: ..... / ..... / 20 ....

Sau 2 tun

T4: TSH:

Triu chng: .....................................................................................................................

Trng lng: Chiu di: Vng u: Thay i liu (nu c):

Sau 4 tun

T4: TSH:

Triu chng: .....................................................................................................................


Sau 2 thng

T4: TSH:

Triu chng: .....................................................................................................................


Sau 4 thng

T4: TSH:

Triu chng: .....................................................................................................................


Sau 6 thng

T4: TSH:

Triu chng: .....................................................................................................................



30

THEO DI

Sau 10 thng

T4: TSH:

Triu chng: .....................................................................................................................


Sau 14 thng

T4: TSH:

Triu chng: .....................................................................................................................


Sau 18 thng

T4: TSH:

Triu chng: .....................................................................................................................


Sau 22 thng

T4: TSH:

Triu chng: .....................................................................................................................


Sau 26 thng

T4: TSH:

Triu chng: .....................................................................................................................



31

THEO DI

Sau 30 thng

T4: TSH:

Triu chng: .....................................................................................................................


Sau 34 thng

T4: TSH:

Triu chng: .....................................................................................................................


Sau 38 thng

T4: TSH:

Triu chng: .....................................................................................................................


Sau 4 tui

T4: TSH:

Triu chng: .....................................................................................................................


Sau 5 tui

T4: TSH:

Triu chng: .....................................................................................................................


(tip tc theo di cho ti khi ngng pht trin)


32

BO CO CC KT QU SNG LC & XT NGHIM XC NH CHN ON

Cc kt qu sng lc s c hon tt trong vng ti thiu 7 ngy t khi nhn mu mu kh v kt qu s c thng tin n cc n v tham gia qua h thng mng ca chng trnh.

BO CO KT QU SNG LC

Trng hp kt qu sng lc bnh thng

Tt c cc tr c kt qu sng lc bnh thng s khng cn theo di cc bnh c sng lc. Gia nh c thng bo trong vng 10 ngy nu khng c nhn vin y t thng tin v kt qu sng lc ngha l con ca h c kt qu sng lc bnh thng.

Trong trng hp git mu kh ly khng t chun nhn vin y t cn phi ly li mu mu chuyn n trung tm. Cc trng hp mu mu khng t chun, thng tin ca tr cn ly li mu mu s c chuyn n cc n v tham gia bng email.

Trng hp c kt qu sng lc bt thng

Tt c cc trng hp c kt qu sng lc bt thng, Trung tm sng lc v chn on trc sinh v s sinh s in bo trc tip cho gia nh v n v ph trch chng trnh ca khu vc. Nhn vin y t s ly li ln na mu mu kh hoc huyt thanh (ty theo yu cu ca tng trng hp) gi ngay n n v xt nghim ca trung tm xc nh chn on.

KHI C KT QU CHN ON XC NH

Trng hp c kt qu chn on xc nh m tnh, tr hon ton bnh thng

in thoi cho gia nh v v n v ph trch chng trnh ca khu vc. Tr s khng cn phi theo di thm.

Trng hp c kt qu chn on xc nh dng tnh, tr mc bnh

in thoi cho gia nh v v n v ph trch chng trnh ca khu vc. Tr v gia nh s c nhn vin y t theo di, t vn v bt u qu trnh iu tr di s gim st ca cc nhn vin y t qua o to. n


33

I HC Y DC HU


BO CO TRNG HP SNG LC DNG TNH

Gi n v: ................................................................................................

Tn tr: .......................................................................................... Gii: nam n Ngy sinh: ...... / ..... / 20 .....

S h s ca tr: Tn m: ....................................................................................................................... a ch: ...................................................................................................................... S in thoi: ........................................................................ Tn bnh vin / trm x / nh h sinh: ....................................................................... ................................................................................................................................... a ch bnh vin / trm x / nh h sinh: .................................................................. ................................................................................................................................... Tn nhn vin y t: .................................................................. in thoi lin lc: ..................................................................

Ngy gi mu: .... / .... / 20 ........ Ngy nhn mu ti VXN: ..... / .... / 20 .... Phng php phn tch: .........................................................................................

TSH (km ngng chn on) G6PD (km ngng chn on)

Kt qu: Kt qu:

Gii thch kt qu: ................................. ...................................................................

Gii thch kt qu: ................................. ....................................................................

ngh: ................................................... ....................................................................

ngh: .................................................... ....................................................................

Ngy gi bo co: .... / .... / 20 ..... Ngi thc hin: ............................................. Ch k:

MU II


34

I HC Y DC HU TRUNG TM SNG LC CHN ON TRC SINH & S SINH

BO CO XT NGHIM XC NH CHN ON DNG TNH

Gi n v: ................................................................................................

Tn tr: .......................................................................................... Gii: nam n S h s ca tr: Ngy sinh: ...... / ..... / 20 ..... Tn m: ....................................................................................................................... a ch: ...................................................................................................................... S in thoi: ........................................................................ Tn bnh vin / trm x / nh h sinh: ....................................................................... ................................................................................................................................... a ch bnh vin / trm x / nh h sinh: .................................................................. ................................................................................................................................... Tn nhn vin y t: .................................................................................................... in thoi lin lc: ..................................................................

Ngy ly li mu: .... / .... / 20 ........ Ngy nhn mu ti VXN: ..... / .... / 20 .... KT QU

Phng php phn tch: ..........................................................................................

Thiu nng gip bm sinh Thiu men G6PD

Kt qu: T3 T4 TSH

Kt qu:

Gii thch kt qu: ................................. ...................................................................

Gii thch kt qu: ................................. ....................................................................

ngh: ................................................... ....................................................................

ngh: .................................................... ....................................................................

Ngy gi bo co: .... / .... / 20 ..... Ngi thc hin: ............................................. Ch k:

MU III


35

I HC Y DC HU TRUNG TM SNG LC CHN ON TRC SINH & S SINH

BO CO TUN CHNG TRNH SNG LC S SINH

Thi gian bo co: T ..... / ..... / 20 .... n ...... / .... / 20.......

Stt Thng tin S lng 1 S mu nhn:

2 S mu b loi:

3 L do b loi:

Truyn mu:

Ly mu khng ng quy cch:

Trc 24 gi:

Thng tin khng y : 4 S mu c phn tch:

5 S mu phn tch thiu nng gip bm sinh:

Dng tnh:

m tnh: S trng hp gi li:

S trng hp c xc nh chn on:

6 S mu phn tch thiu enzym G6PD: Dng tnh: m tnh:

S trng hp gi li:

S trng hp c xc nh chn on:

7 S l kit xt nghim:

TSH:

G6PD: Ngi thc hin: .............................................

Ch k:

MU IV

tai lieu huong dan sang soc so sinh

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