Etiology

I. Associated forms of bile duct paucity

 metabolic and genetic disorders

• alpha1-antitrypsin deficiency
• inborn errors of bile acid metabolism
• peroxisomal diseases (cerebrohepatorenal syndrome, Zellweger syndrome)
• coprostanic acidemia

 genetic diseases

• chromosomal diseases: 45X (Turner syndrome), trisomy 17, trisomy 18, trisomy 21
• Ellis-van Creveld syndrome (#12100513#)
• Byler disease
• cystic fibrosis

 inflammatory and dysimmune disorders

• auto-immune sclerosing cholangitis
• hepatic GVHD
• chronic hepatic allograft rejection
• hepatic sarcoidosis

 bilairy atresia (late)

 histiocytic hepatic infiltration and histiocytic portal infiltration

• familial hemophagocytic lymphohistiocytosis (#15906086#)
• Langerhans cell histiocytosis

 panhypopituitarism
 drug-induced vanishing bile-duct syndrome

• antibiotic-associated vanishing bile-duct syndrome

 fetal infections

• fetal rubella (rubella fetopathy)
• fetal CMV infection (CMV fetopathy)
• fetal syphilis

 miscellaneous

• prune belly sequence
• congenital pancreatic hypoplasia associated with paucity of bile ducts and renal microcysts (#15214468#)
• leprechaunism (#9339119#)
• PFIC (progressive familial intrahepatic cholestasis)

II. idiopathic forms

A. syndromic paucity of interlobular bile ducts (Alagille's syndrome)

B. nonsyndromic paucity of interlobular bile ducts

• familial idiopathic childhood ductopenia
• familial idiopathic adulthood ductopenia

References

 Desmet VJ, van Eyken P, Roskams T. Histopathology of vanishing bile duct diseases. Adv Clin Path. 1998 Apr;2(2):87-99. PMID: #10358336#