[Clinical features of a Chinese infant with inborn error of bile acid metabolism-3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency and review of the literature].
OBJECTIVE
To study the clinical features of children with 3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency and review the literature.


METHODS
Clinical features and treatment of one Chinese infant with 3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency confirmed by HSD3B7 gene mutation analysis were retrospectively reviewed, and 51 cases of 3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency who were internationally reported since 2000 were also reviewed in this paper.


RESULTS
(1) A 3-month-old infant with neonatal cholestasis was admitted to our hospital because of hyperbilirubinemia and abnormal liver dysfunction (total bilirubin 110.7 µmol/L, direct bilirubin 74.5 µmol/L, γ-glutamyltransferase 24.4 IU/L, total bile acid 0.1 µmol/L).His jaundice disappeared within a few weeks, serum liver biochemistries improved and his growth in weight and height was excellent after oral cholic acid therapy.HSD3B7 gene analysis using peripheral lymphocyte genomic DNA from the patient identified compound heterozygous mutations. This child was confirmed as the most common inborn error of bile acid metabolism-3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency by molecular analysis.(2) Retrospective review of the literature showed that the clinical features of 3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency included neonatal cholestasis, some patients progressed to severe liver disease and needed liver transplantation without effective therapy; however, serum biochemical characteristics of normal γ-glutamyltransferase activity, normal or low total bile acid concentrations were not consistent with cholestasis, the replacement treatment with cholic acid produced a dramatic improvements in symptoms, biochemical markers of liver injury; 31 cases were diagnosed by HSD3B7 gene mutation analysis.


CONCLUSIONS
The clinical characteristics of 3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency include neonatal cholestasis, normal serum γ-glutamyltransferase activity, and normal or low serum total bile acid concentration.Oral cholic acid replacement is an effective therapy; definitive diagnosis of 3β-hydroxy-Δ(5)-C27-steroid dehydrogenase deficiency can be identified by molecular genetic testing technology.
Department of Infectious Diseases, Pediatric Liver Center, Children's Hospital of Fudan University, Shanghai.
Tian-jiao
TJ
Yang
Xin-bao
XB
Xie
Wei-lei
WL
Yao
Hui-jun
HJ
Wang
Hui
H
Yu
Xiao-hong
XH
Wang
D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency* / Q000235:genetics*; D000284:Administration, Oral; D001647:Bile Acids and Salts / Q000096:biosynthesis / Q000097:blood*; D001663:Bilirubin / Q000097:blood; D002635:Chenodeoxycholic Acid / Q000008:administration & dosage / Q000627:therapeutic use; D002780:Cholestasis, Intrahepatic / Q000175:diagnosis* / Q000188:drug therapy / Q000201:enzymology; D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D008099:Liver / Q000187:drug effects / Q000378:metabolism / Q000503:physiopathology; D008111:Liver Function Tests; D008297:Male; D008659:Metabolic Diseases / Q000188:drug therapy / Q000503:physiopathology; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D012189:Retrospective Studies
D001647:Bile Acids and Salts; D002635:Chenodeoxycholic Acid; D015096:3-Hydroxysteroid Dehydrogenases; C066485:3 beta-hydroxy-delta 5-C(27)-steroid dehydrogenase; D001663:Bilirubin