Progressive Familial Intrahepatic Cholestasis Associated With USP53 Gene Mutation in a Brazilian Child

被引：11

作者：

Porta, Gilda ^{[1
]}

Rigo, Paula S. M. ^{[1
]}

Porta, Adriana ^{[1
]}

Pugliese, Renata P. S. ^{[1
]}

Danesi, Vera L. B. ^{[1
]}

Oliveira, Eliene ^{[1
]}

Borges, Cristian C., V ^{[1
]}

Ribeiro, Cristiane ^{[2
]}

Miura, Irene K. ^{[1
]}

机构：

[1] H Sirio Libanes H Menino Jesus, Pediat Hepatol, Transplant Unit, Sao Paulo, Brazil

[2] H Sirio Libanes H Menino Jesus, Dept Pathol, Sao Paulo, Brazil

来源：

JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION | 2021年 / 72卷 / 05期

关键词：

cholestasis; gamma-glutamyltranspetidase; pathogenic variant;

D O I：

10.1097/MPG.0000000000003110

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

A case of low-gamma-glutamyltranspetidase cholestasis associated with ubiquitin-specific peptidase 53 (USP53) gene mutation in a Brazilian child is described. Transient jaundice and hypocholia started at the age of 10 days. Liver enzymes, total bilirubin, and total bile acids were elevated at presentation. During follow-up, he developed cholelithiasis treated with cholecystectomy, and an intracranial hemorrhage resolved with full recovery. At last, evaluation at the age of 18 months, he was not jaundiced and had normal liver tests, but experienced from moderate pruritus despite treatment with rifampicin and ursodeoxycholic acid. A genetic study revealed novel homozygous mutations c.1687_1688delinsC p.Ser563Profs*25 in the USP53 gene. His parents carried the same heterozygous mutation in the USP53 gene.

引用

页码：674 / 676

页数：3

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