Download - Boli Rare Cu Manifestari Renale
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Mihai Gafencu, Maria PuiuUMF Timisoara
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“What is man but an ingenious machine designed to turn … the red wine into urine”!
Isak Denison
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Obiective
Sa recunoastem bolile renale chistice sau nu, rare sau nu, transmise genetic sau nu
Sa stim cind si cum se indica explorarile aparatului renal, in aceste boli
Sa reusim a trata per primam si indruma pacientul spre urmatoarele investigatii sau consulturi de specialitate necesare
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Rinichi - Localizare si functie
- organ retro-peritoneal
RINICHIUL – PERFORMANTE (la adult)
150g - fiecare1700 litri singe filtrat 180 L de filtrat 1.5 l urina pe zi
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Un pic de anatomie
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Clasificare 1Clasificare 1
- Grup heterogen de afectiuni genetice- Grup heterogen de afectiuni geneticeMalformatii renale:Malformatii renale: agenezii, duplicatii agenezii, duplicatii Boli monogenice:Boli monogenice:
Displazii renale – boli chistice renale;Displazii renale – boli chistice renale;Glomerulopatii si tubulopatii;Glomerulopatii si tubulopatii;Boli metabolice;Boli metabolice;Tumora Wilms etcTumora Wilms etc
Boli sistemice Boli sistemice cu afectare renala: HTA, DZ, cu afectare renala: HTA, DZ, LESLES
Anomalii cromozomialeAnomalii cromozomiale
TeratogenitatiTeratogenitatiDupa Cristina RusuDupa Cristina Rusu
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BOLILE POLICHISTICE RENALE
Boli sistemice (cu manifestări renale şi extrarenale)
Boli genetice (în marea lor majoritate)
Important practic frecvenţa globală de ~ 1: 800 n-nascuti vii; a treia cauză majoră de IRC (7 – 10% în
dializă); risc mare de recurenţă în familie
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Genele si bolile renale
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BOLILE POLICHISTICE RENALE (PKD) - grupate pe baza patogeniei moleculare în două categorii distincte
ADPKD, ARPKD, NEFRONOFTIZII-AR(6
tipuri) sindroamele sau bolile
sistemice cu chiste renale
generate prin defecte defecte diferitediferite produse însă în produse însă în acelaşiacelaşi releu funcţional releu funcţional (care produce în final chiste)
(P. Wilson, 2004)
B.R. CHISTICĂ MEDULARĂ B.R. GLOMERULO - CHISTICĂ
boli de stocare a
uromodulinei (F. Scolari, 2004)
Altele – Fibroza chistica, VHL
Dupa Covic M. 2007
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Manifestările extra-renale în PKD
PKD – boli sistemice; mutaţiile genelor PKD alterează interacţiunile
dintre celule, dintre celule şi
matrice,produc defecte
vasculare şi cardiace;
HTA – este produsă prin activarea SAAR şi probabil prin defecte vasculare.
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CAUZELE VARIABILITĂŢII FENOTIPICE (Rossetti şi Harris, 2007)
GENETICE (corelaţii genotip – fenotip): Heterogenitatea
genelor PKD1 mai severă ca PKD2
Poziţia mutaţiilor alelice: ADPKD: reg. 5 → forme
severe; ARPKD: mutaţii
nonsens mai severe ca cele missens.
Gene modificatoare
NEGENETICE: Hormonale; în ADPKD
forme mai severe la bărbaţi;
afectare hepatică mai frecventă la femei, creşte cu expunerile la estrogeni
Factori de mediu: cafeinacafeina (↑cAMP), fumatulfumatul, obezitateaobezitatea (la bărbaţi) →
progresie mai rapidă.
TESTE MOLECULAREPROGNOSTICE
Dupa Covic M. 2007
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PROGRESIA SPRE IRCPROGRESIA SPRE IRC
Se produce la cei mai mulţi bolnavi cu PKD, dar nu este obligatorie.
În ADPKD – 50-70 % bolnavi au IRC la 70 de ani
(Iharashi şi Somlo, 2002)
Factorii de riscFactorii de risc pentru progresia la IRC: tipul de gene PKD, sexul, proteinuria şi prezenţa HTA
(Chapman, 2007)Dupa Covic M. 2007
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PROGRESIA SPRE IRC
CAUZECAUZE :
Distrugerea parenchimului normal prin: expansiune chistica + creşterea apoptozei;
Creşterea fibrozei interstiţiale – cale comună tututor nefropatiilor – prin transformarea celulelor epiteliale în mioepiteliale, depunere de colagen;
Inflamaţie(Schieren et al, 2006)
NOILE ŢINTE TERAPEUTICE NOI MARKERI PENTRU
APRECIEREA PROGRESIEI PKD
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Boli renale chistice
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ARPKD
Apare inca din perioada antenatala – Dg!!! Imagine eco omogena cu chiste mici in
parenchim Des letala in citeva luni dupa nastere Asociata des cu fibroza hepatica,
ectazia biliara, fibroza periportala Mutatie PKHD1 pe Cr 6 Rinichi mari, spongiosi
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CT in ARPKD
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Fetus si sugar cu ARPKD
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Macroscopic - ARPKD
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Microscopie in ARPKD
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ADPKD
O frecventa cauza a IRC-ESRD (7-15%)
Prezenta de la nastere dar si la 30-50 ani
2 gene identificate – PKD1, PKD2 PKD1(Cr 16) – des cu HT, IRC la debut,
copii PKD2 (Cr 4) – prezenta la maturitate
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ADPKD – Evaluare
Diagnosticul (in absenta istoricului positiv familial) se pune prin
Prezenta de chiste, bilateral, cu minim 2 dintre: Crestere renale bilaterala in dimensiuni 3 sau mai multe chiste hepatice Anevrism arterial cerebral Chiste arachnoide, pineale, pancreatice,
splenice
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ADPKD - Tratament
Rol esential al consilierii genetice ! Tratati la adult HTA! Risc de infectii! Atentie la nefrotoxice!
Managementul durerii – solutie medicala vs chirurgicala
Managementul meganefrozei – rol specialist
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ECO – RD
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ECO - RS
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CT – ADPKD
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ADPKD
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ADPKD
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Nefronoftizie Juvenila -NJ/ Boala chistica medulara-BCM NJ
Majoritatea AR 3 tipuri – juvenila (NPH1), adolescentina
(NPH2), infertila (NPH3) Debut in medie la 13 ani – cu IRC
Boala chistica medulara Majoritatea AD Virsta mai mare la debut 18-20 ani
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Prezentatie la medic – debut
Polidipsia / poliuria predomina tabloul 80% din cazuri, rezistente la vasopresina
Restrictia de sare nu e indicata! Nefropatie cu pierdere de sare! Se prezinta uneori cu afectare retiniana
(retinitis pigmentosa), anomalii scheletale, fibroza hepatica
Unele sindroame rare se asociaza cu NJ (Bardet-Biedl, Senior-Loken, Alstroms)
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Histologic
Nefrita Interstitiala cu atrofii Chiste la 85% cu BCM si doar 40% cu NJ!!! Sunt mici de max 0,5 cm la junctiunea
cortico-medulara
Tratament Sare Suportiv al IRC apoi Dializa, Transplant
renal
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Nefroza Congenitala
Finnish Type – AR - pe Cr 19 Scleroza Difuza Mezangiala
Clinic Rinichi mult mariti cu placenta des
marita Proteinurie severa instalata rapid cu
edeme, progresie spre IR si deces
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Chiste renale in sd malformative multiple Autosomal dominante-
von Hippel Lindau –gena VHL on Cr 3 Scleroza Tuberoasa – TSC1 pe Cr 9,
TSC2 pe Cr 16 Autosomal recesive-
Meckel Distrofia toracica asfixianta Jeune Sd. Zellweger -sd Cerebrohepatorenal Displazia reno-hepatico-pancreatica
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Chiste renale in sd malformative multiple
Transmise X-lincat Dominant Orofaciodigital Syndrome I
Boli cromozomiale Trisomy 13 (Patau) Trisomy 18 (Edward) Trisomy 21 (Down)
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Non-Genetice
• Displazia multichistica (MCDK)• Cystic Nephroma• Chistele Simple • Rinichi in burete -Medullary Sponge Kidney
• Cistigate - Acquired Renal Cystic Disease• Diverticul Caliceal• Carcinomul renal chistic
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Displazia multichistica (MCDK)
Nongenetica cu debut inca de la nastere
Activa ca proces, evoluind diferit Monitorizare obligatorie pina la 5 ani Riscul refluxului contralateral - 15%
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MCDK
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MCDK
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Rinichi in burete -Medullary Sponge Kidney (MSK)
Dilatare a ducturilor colectoare Creste riscul de
Nefrolitiaza (cu 50-60%) Hipercalciurie (minim 33%) ITU (20-33%) Hematurie (pina la 18%)
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MSK – Macroscopic
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Chiste renale cistigate
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Clasificare 2Clasificare 2
- Grup heterogen de afectiuni genetice- Grup heterogen de afectiuni geneticeMalformatii renale:Malformatii renale: agenezii, duplicatii agenezii, duplicatii Boli monogenice:Boli monogenice:
Displazii renale – boli chistice renale;Displazii renale – boli chistice renale;
Glomerulopatii si tubulopatii;Glomerulopatii si tubulopatii;Boli metabolice;Boli metabolice;Tumora Wilms;etcTumora Wilms;etc
Boli sistemice Boli sistemice cu afectare renala: HTA, DZ, cu afectare renala: HTA, DZ, LES;LES;
Anomalii cromozomiale;Anomalii cromozomiale;
TeratogenitatiTeratogenitati
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GlomerulopatiiGlomerulopatii
Glomerulonefrite:Glomerulonefrite:o Sindromul AlportSindromul Alporto Sindromul unghie-rotula (nail- patella)Sindromul unghie-rotula (nail- patella)
Sindrom nefrotic:Sindrom nefrotic:o Sindrom nefrotic congenital (tip finlandez);Sindrom nefrotic congenital (tip finlandez);o Sindrom nefrotic corticorezistent.Sindrom nefrotic corticorezistent.
• Anomalii ale homeostaziei Na;Anomalii ale homeostaziei Na;
• Anomalii ale echilibrului apei;Anomalii ale echilibrului apei;
• Acidoza tubulara renala.Acidoza tubulara renala.
TubulopatiiTubulopatii
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Clasificare 3Clasificare 3
- Grup heterogen de afectiuni genetice- Grup heterogen de afectiuni geneticeMalformatii renale:Malformatii renale: agenezii, duplicatii agenezii, duplicatii Boli monogenice:Boli monogenice:
Displazii renale – boli chistice renale;Displazii renale – boli chistice renale;Glomerulopatii si tubulopatii;Glomerulopatii si tubulopatii;Boli metabolice;Boli metabolice;Tumora Wilms;etcTumora Wilms;etc
Boli sistemice Boli sistemice cu afectare cu afectare renalarenala: HTA, DZ, LES;: HTA, DZ, LES;
Anomalii cromozomiale;Anomalii cromozomiale;
TeratogenitatiTeratogenitati
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Boli sistemiceBoli sistemice
HTA esentiala;HTA esentiala; DZ;DZ; LES;LES; Vasculite ANCA +;Vasculite ANCA +; Sclerodermia;Sclerodermia; Sarcoidoza;Sarcoidoza; SHU;SHU; Amiloidoza;Amiloidoza; Guta, hiperuricemia, etcGuta, hiperuricemia, etc
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Clasificare 4Clasificare 4
- Grup heterogen de afectiuni genetice- Grup heterogen de afectiuni geneticeMalformatii renale:Malformatii renale: agenezii, duplicatii agenezii, duplicatii Boli monogenice:Boli monogenice:
Displazii renale – boli chistice renale;Displazii renale – boli chistice renale;Glomerulopatii si tubulopatii;Glomerulopatii si tubulopatii;Boli metabolice;Boli metabolice;Tumora Wilms;etcTumora Wilms;etc
Boli sistemice Boli sistemice cu afectare renala: HTA, DZ, cu afectare renala: HTA, DZ, LES;LES;
Anomalii cromozomiale;Anomalii cromozomiale;
TeratogenitatiTeratogenitati
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TeratogeneTeratogene Boli materne:Boli materne:
o Diabet zaharat;Diabet zaharat;o Rubeola;Rubeola;
Droguri:Droguri:o Alcool;Alcool;o Cocaina etcCocaina etc
MedicamenteMedicamente Carbamazepina;Carbamazepina; Inhibitori ai enzimei de conversie a angiotensinei;Inhibitori ai enzimei de conversie a angiotensinei; Misoprostol;Misoprostol; Valproat;Valproat; Vitamina A;Vitamina A; Warfarina etcWarfarina etc
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Explorari initiale!
Sa nu uitam de…
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Microscopia urinara – RIDICA SUSPICIUNEA DIAGNOSTICULUI IN MAJORITATEA CAZURILOR
Examenul sumar de urina
Cilindrii Leucocite, eritrocite Celule epiteliale Bacterii pH Proteinurie calitativa
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Formare de cilindri:Formare de cilindri:
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GranularI:GranularI:
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HEMATICI:HEMATICI:
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EpiteliaIi :EpiteliaIi :
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LEUCOCITAR:LEUCOCITAR:
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Mixt :Mixt :
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HEMATII IN URINA :HEMATII IN URINA :
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LEUCOCITE IN URINA :LEUCOCITE IN URINA :
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Oxalat URINAR:Oxalat URINAR:
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Examen sumar de urina – test utilCilindri eritrocitari Glomerulonefrita
Vasculita
Cilindri leucocitari Pielonefrita acuta
Cilindri granulosi Nefrotic sd - Minimal change disease
Cilindri Muddy brown
Necroza tubulara acuta
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Clinic putem intilni:Clinic putem intilni:
Sd Nefritic Oligurie, hematurie, proteinurie, edeme
Sd Nefrotic Proteinurie, hiperlipidemie, edeme
Insuficienta renala acuta Oligurie, pierderea functiei renale in
saptamini
Insuficienta renala cronica - Uremia
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•Normal
•Proliferativa
•Post strepto
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GN Mesangiocapilara GN Mesangiocapilara (MPGN)(MPGN)
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GN Cronica :GN Cronica :
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Urolitiaza izolata sau din Urolitiaza izolata sau din diverse boli:diverse boli:
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Discutii
Diagnosticul precoce este in mina specialistului pediatru si a medicului de familie!
Testele care semnaleaza boala renala nu sunt pretentioase si nici scumpe – TA, Eco, sumar urina
Colaborarea cu pecialistul si mai apoi cu un centru specializat pentru boli genetice este cistigul ambelor parti in folosul pacientilor!