kelainan metabolik bawaan

8/17/2019 KELAINAN METABOLIK BAWAAN

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PANDUAN PRAKTIK KLINIS

SMF ILMU KESEHATAN ANAK

RSUD Dr. MOEWARDI

2012 - 2014

KELAINAN METABOLIK BAWAAN

1. Pengertian De!ini"i#

Ke$ainan %a&aan 'a(a 'r)"e" *eta%)$i+. Meta%)$i"*e a(a$a, ara t%,

*eng,a"i$+an nergi "erta *e*%ent+ *)$e+$ /ang (i'er$+ann/a (ari

a"'an +ar%),i(rat 'r)tein $e*a+ (a$a* *a+anan.

2. Ana*ne"i"

1. A(an/a ri&a/at (a$a* +e$arga

2. Ri&a/at a(an/a "a(ara (engan +e$ainan /ang ti(a+ (a'at

(iterang+an *i"a$n/a SIDS S((en in!ant (eat, "/n(r)*e#

en"e!a$)'ati "e'"i"

. A(an/a (eraat +e$ainan /ang %er"i!at !a*i$ia$3 'en/a+it ner)$)gi"

/ang 'r)gre"i! !eni$+et)nria *aterna$ +eggran %er$ang

"in(r)*a HELLP ,ae*)$/"i" e$eate( $ier en5/*e" an( $)&

'$ate$et )nt# ($$

4. 6aga$ t*%, ata *a$ntri"i

7. De+)*'en"a"i *eta%)$i+ %er$ang /ang (i'i )$e, +ea(aan

"'e"i!i+ *i" 'a"a tra*a )'era"i in!e+"i (e*a* a+"ina"i

a"'an (iet tinggi 'r)tein $a+t)"a +ar%),i(rat !r+t)"a $e*a+ "erta

)%at-)%atan

8. 9a t%, (an rin /ang ti(a+ $a5i* terta*a tera(i "aat

(e+)*'en"a"i *eta%)$i+3 !eni$+et)nria MSUD *a'$e "/r' rine

(i"ea"e# ($$

:. Warna rin %ir-)+$at 'a(a a$+a't)nria )+$at 'a(a *i)g$)%inria

. Pe*eri+"aan !i"i+

1. Sin(r)* ner)$)gi" en"e!a$)'ati +r)ni+ en"e!a$)'ati a+t +e$ainan

gera+#

2. Sin(r)* ,ati i+teri+ ,e'at)*ega$i ,i')g$i+e*ia (i"!ng"i

,e'at)"e$$er#

. Sin(r)* antng +ar(i)*i)'ati arit*ia 'en/a+it arteria +)r)naria

're*atr#

4. Di"*)r!i"*e (an storage syndrome +e$ainan %ent+ /ang "e*a+in

%erat (engan %erta*%a,n/a "ia &aa, +a"ar +e$ainan t$ang

'era&a+an 'en(e+ )rgan)*ega$i#

4. Kriteria (iagn)"i"Diagn)"i" (itega++an (ari +$ini" (an 'e*eri+"aan *ennang /ang

*e*%+ti+an a(an/a ganggan *eta%)$i+ %a&aan

7. Diagn)"i" E:0 ; E


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8. Diag)"i" %an(ing

1. Pen/a+it in!e+"i

2. At)i*n

. Kegana"an

:. Pe*eri+"aan 'ennang

1. Dara, 'eri!er $eng+a'

2. Ana$i"a ga" (ara, (an e$e+tr)$it

. 6$+)"a (ara,.

4. A*)nia.i+a *e*ng+in+an#

7. Tran"a*ina"e i !ng"i ,ati8. Ka(ar =reatine +ina"e =K#

:. La+tat (an 'irat.i+a *e*ng+in+an#

>. 9a(an +et)n i+a *e*ng+in+an#

. Tera'i1. Pengen(a$ian (iet

2. O%at %i$a a(a#

t, e(. USA3"an(er" E$"eierC 20042. =$ar+e TR. A =$inia$ gi(e t) in,erite( *eta%)$i (i"ea"e. 6reat

9ritain3 =a*%ri(ge Unier"it/ Pre""C 1


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Wa+i$ Keta

Dr. D)+) S"iant) S'.M Dr.En(ang De&i L S'.AK# MPH

NIP.1

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