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sindromul ascitic - UMF - Iuliu Haţieganu

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SINDROAME COLESTATICE PRIN DEFECTE GENETICE ALE SISTEMELOR<br />

CANALICULARE DE TRANSPORT<br />

Boala<br />

Colestaza familială<br />

intrahepatică progresivă (FIC)<br />

Gena<br />

FIC 1 ATP8B 1<br />

Cromozomul 18q21-22<br />

FIC 2 ABCB 11<br />

Cromozomul 2q24<br />

FIC 3 ABCB 4<br />

Cromozomul 7q21<br />

Sitosterolemia<br />

ABCG 5 /ABCG 8<br />

Proteina transportoare<br />

codificată<br />

FIC1 (transportul<br />

aminofosfolipazelor)<br />

Absenţa BSEP<br />

(pompa de export a sărurilor<br />

biliare<br />

MDR3 (translocaţia<br />

fosfatidilcoline)<br />

Pompa de export a sterolilor<br />

Sindromul Dubin-Johnson ABCC 2<br />

Cromozomul 10q24<br />

MRP 2 (transportorul anionilor<br />

organici)

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