Δ4-3-oxosteroid-5β-reductase deficiency: Responses to oral bile acid therapy and long-term outcomes

Table 3 Evolution of clinical feature or liver function tests during oral chenodeoxycholic acid therapy in 11 children with ∆4-3-oxosteroid 5β-reductase deficiency

Patient No.	Starting age (mo)	Starting dosage (mg/kg per day)	Dosage adjustment (mg/kg per day × duration)	Age (mo) at LFTs normalization	Dosage maintaining normal LFTs and suppressing atypical bile acids (mg/kg per day)	Status/age at last follow-up
1	5.5	8	8 mo × 7 mo; 10 × -	9	10	Normal/4 yr 11 mo
2	11	12	12 mo × 1 mo; 8 mo × 0.75 mo; 4.5 mo × 5 mo; 5.5 × -	31	5.5	Normal/4 yr
3	6	10	10 mo × 24 mo; 9 mo × 12 mo, 8 × -	13	8	Normal/4 yr 9 mo
4	3	5	5 mo × 1mo; 3 mo × 2 mo; 7 mo × 4.5 mo; 8 mo × 2.5 mo; 11 mo × 13 mo; 8 × -	26	8	Normal/6 yr 7 mo
6	14	8	8 wk × 3 wk; 6 wk × 1 wk; 5 mo × 2.5 mo; 6 mo × 3 mo; 7 × -	18	7	Normal/2 yr 11 mo
7	10	10	10 wk × 1 wk; 8 mo × 1 mo; 0 wk × 1 wk; 5 × -	14	5	Normal/2 yr 4 mo
8	7	10	10 wk × 1 wk; 4 mo × 2 mo; 5 mo × 6 mo; 6 mo × 2 mo	N.A.	N.A.	Transplanted/1 yr 6 mo
9	4	8	8 mo × 2 mo; 9 mo × 2 mo; 10 × -	10	10	Normal/1 yr 5 mo
10	3.5	10	10 × -	6.5	10	Normal/11 mo
11	5	10	10 mo × 13 mo; 7 × -	8	7	Normal/2 yr
12	2.5	10	10 × -	5	10	Normal/8 mo

The dosage of chenodeoxycholic acid was reduced if serum alanine aminotransferase and aspartic transaminase obviously elevated with obviously elevated total bile acid level; increased if not sufficient suppression of atypical bile acid demonstrated by fast atom bombardment ionization mass spectrometry after the resolution of jaundice. N.A.: Not applicable; LFT: Liver function test.