Skip to main content

Table 4 Causes of bile duct paucity

From: Role of percutaneous liver biopsy in infantile cholestasis: cohort from Arabs

Diagnosis

Number of cases

INH

9

USP53 Gene mutation (TJP mutation)

1

PFIC 2

4

Alagille syndrome

3

Down syndrome

1

CMV

1

FOXA1 gene mutation*

1

Biliary atresia

1

TPN-associated cholestasis

1

HBV

1

Panhypopituitarism

1

  1. INH ideopathic neonatal hepatitis, TJP tight junction protein, PFIC progressive familial intrahepatic cholestasis, CMV cytomegalovirus, TPN total parenteral nutrition, HBV hepatitis B virus
  2. *FOXA1 gene mutation, c.313G > A, (p.Gly105Ser), is not associated with human disease, however FOXA1 gene is a critical transcription factor for normal bile duct development (Li 2009, J Clin Invest 119: 1537–45), Homozygous mutation: The patient presented at 2 weeks with low GGT cholestasis