neonatal cholestasis
Types
neonatal extra-hepatic cholestasis
neonatal extra-hepatic cholestasis
- ductopenias
- neonatal lobular cholestasis
Etiology
neonatal biliary duct diseases
- neonatal extra-hepatic biliary atresia
- neonatal biliary duct paucity (ductopenia)
- neonatal Alagille disease
- Aagenaes syndrome (norwegian)
- north american indian cirrhosis (north american indian cholestasis)
- Greenland eskimo cholestasis
neonatal intrahepatic cholestasis
- congenital bile acide synthesis defects (CBASs)
- CBAS1 (MIM.607765) : 3beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency (HSD3B7 - MIM.607764)
- CBAS2 (MIM.235555) : delta4-3-oxosteroid-5beta-reductase deficiency (AKR1D1 - MIM.604741).
- CBAS3 (MIM.603711) : microsomal oxysterol 7-alpha-hydroxylase (CYP7B1 - 603711)
- CBAS4 (MIM.214950) : alpha-methylacyl-CoA racemase gene (AMACR; MIM-604489)
- progressive familial intrahepatic cholestases (PFICs)
- PFIC1 (Byler disease) (MIM.211600): gene ATP8B1 (MIM.211600)
- PFIC2 (MIM.601847) and benign recurrent intrahepatic cholestasis-2 (BRIC2) (MIM.605479): gene ABCB11 (MIM.603201)
- PFIC3 (MIM.602347): gene ABCB4 (MIM.171060)
- bile anomalies
- cystic fibrosis
- metabolic diseases
- alpha-1-antitrypsin deficiency
- Niemann-Pick diseases type C
- peroxysomal diseases
- citrin deficiency (#20070398#)
References
Bove KE, Heubi JE, Balistreri WF, Setchell KD. Bile acid synthetic defects and liver disease: a comprehensive review. Pediatr Dev Pathol. 2004 Jul-Aug;7(4):315-34. PMID: #15383928#
Knisely AS. Progressive familial intrahepatic cholestasis: an update. Pediatr Dev Pathol. 2004 Jul-Aug;7(4):309-14. PMID: #15383927#
Knisely AS. Progressive familial intrahepatic cholestasis: a personal perspective. Pediatr Dev Pathol. 2000 Mar-Apr;3(2):113-25. PMID: #10679031#
Jevon GP, Dimmick JE. Histopathologic approach to metabolic liver disease: Part 1. Pediatr Dev Pathol. 1998 May-Jun;1(3):179-99. PMID: #10463278#