Table 2 Clinical features and biochemical findings of DJS
From: Mutation spectrum and biochemical features in infants with neonatal Dubin-Johnson syndrome
Patients number | Sex | Acholic stool | DB (mg/dL) | TB (mg/dL) | AST (IU/L) | ALT (IU/L) | Liver biopsy | Variant |
|---|---|---|---|---|---|---|---|---|
1 | F | - | 4.1 | 5.8 | 25 | 14 | Intracytoplasmic cholestasis Extramedullary hematopoiesis Suspicious bile duct loss | p.Arg768Trp |
p.Gly693Glu | ||||||||
2 | F | - | 11.0 | 15.6 | 61 | 15 | - | c.2439 + 2T > C |
p.Tyr119SfsTer34 | ||||||||
3 | M | + | 9.4 | 12.0 | 28 | 15 | Intracytoplasmic cholestasis Extramedullary hematopoiesis | p.Arg768Trp |
p.Arg768Trp | ||||||||
4 | M | Â | 7.0 | 13.4 | 25 | 17 | - | p.Arg100Ter |
p.Arg1310Ter | ||||||||
5 | F | Â | 3.7 | 8.1 | 54 | 40 | - | p.Thr394Arg |
p.Asn718Ser | ||||||||
6 | F | + | 7.7 | 11.0 | 26 | 11 | Intracanalicular and intracytoplasmic cholestasis Suspicious loss of interlobular bile ducts Degenerative change of interlobular bile ducts | p.Arg100Ter |
p.Arg768Trp |