Clinical features and gene variation of congenital bile acid synthesis disorder type 2 in 8 children

  • 佘兰辉,李旭芳,叶家卫,等
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  • Guangzhou Women and Children's Medical Center, Guangzhou 510120 , Guangdong, China

Online published: 2020-12-18

Abstract

Objective To explore the clinical features and characteristics of genetic variation in congenital bile acid synthesis disorder type 2. Method The clinical data of congenital bile acid synthesis disorder type 2 in 8 children was retrospectively analyzed. Results Eight children ( 6 boys and 2 girls) had clinic visit for jaundice between 6 and 12 weeks after birth, and the median diagnosis age was 4 . 7 months. Six children had pale yellow stools, and all had cholestatic hepatitis with normal bile acid. There was normalγ-GT in 6 cases, coagulation disorder in 3 cases and amino acid changes in 5 cases. Color Doppler ultrasonography showed poor or no filling of gallbladder. AKR 1 D 1 gene mutation was found in all 8 cases. Four cases were AKR1D 1 homozygous variants, 3 cases were compound heterozygous variants, and one case was single-heterozygous variants. In combination with urine steroid analysis, the diagnosis was confirmed. Conclusions Cholestasis can be found in children with congenital bile acid synthesis disorder type 2 in early infancy. There is no obvious abnormality in γ - GT and bile acid, and coagulation dysfunction can be found in some cases. Gene and urine steroid detection can confirm the diagnosis.

Cite this article

佘兰辉,李旭芳,叶家卫,等 . Clinical features and gene variation of congenital bile acid synthesis disorder type 2 in 8 children[J]. Journal of Clinical Pediatrics, 2020 , 38(12) : 936 . DOI: 10.3969/j.issn.1000-3606.2020.12.013

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