Table 2 Clinical and laboratory features of the 8 patients with neonatal cholestasis caused by oxysterol 7α-hydroxylase (CYP7B1) deficiency
Patient | Race | Sex | Age at first diagnosis | Urine mass spectrometry—abnormal features | Organomegaly | CYP7B1 mutation | Treatment and outcome |
|---|---|---|---|---|---|---|---|
Setchell et al. [2] | Hispanic | M | 10 weeks | Elevated 3β-hydroxy-5-cholenoic acid | Hepatomegaly | R388X/R388X | CA 15 mg/kg/day, but no response after 49 d, CDLT at 4.5 mo, died at 5 mo |
Ueki et al. [16] | Chinese | M | 5 months | Elevated 3β-hydroxy-5-cholen-24-oic acid | Hepatosplenomegaly | R112X/R112X | UDCA, died at 11 mo |
Mizuochi et al. [17] | Japanese | F | 6 months | Elevated 3β-hydroxy-5-cholen-24-oic acid | Hepatosplenomegaly | R112X/R417C | LDLT at 8 mo, alive (29 mo) |
Dai et al. [3] | Pakistani | M | 3–4 months | Elevated 3β-hydroxy-5-cholenoic acid | normal | R417C/R417C | CDCA 15 mg/kg/day firstly, improved after 2 d, normal liver function by 7 mo, CDCA 6 mg/kg/day at 5 years, alive (6.5 years) |
Jeana et al. [18] | Korean | M | 3 months | Elevated 3β-hydroxy-Δ5-bile acids | Hepatosplenomegaly | R338X/Y469Ifs | LDLT at 4 mo, alive (33 mo) |
Ju-Yin Chen et al. [4] | Chinese | M | 4 months | Elevated 3β-monohydroxy-Δ5-bile acids | NR | R112X/R112X | CDCA 9 mg/kg/day, liver function deteriorated, LT at 1 year, died at 1 year |
Ju-Yin Chen et al. [4] | Chinese | M | 3 months | Elevated 3β-monohydroxy-Δ5-bile acids | Hepatosplenomegaly | R112X/R112X | CDCA 15 mg/kg/day firstly, liver function improved after 2 mo, CDCA 5 mg/kg/day at mo, alive (3 years) |
Present case | Chinese | F | 5 months | Elevated 3β-hydroxy-Δ5-bile acids | Hepatosplenomegaly | R63X /R112X | CDCA 6 mg/kg/day, liver function improved after 7 d, alive (23 mo) |