|
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
|
- INH ideopathic neonatal hepatitis, TJP tight junction protein, PFIC progressive familial intrahepatic cholestasis, CMV cytomegalovirus, TPN total parenteral nutrition, HBV hepatitis B virus
- *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
