Neonatal Sclerosing Cholangitis with Novel Mutations in (doublecortin Domain-containing Protein 2) in Chinese Children

Overview

Journal Front Pediatr

Specialty Pediatrics

Date 2023 Feb 23

PMID 36816379

Authors

Xia Wei

Yuan Fang

Jian-She Wang

Yi-Zhen Wang

Yuan Zhang

Kuerbanjiang Abuduxikuer

Lian Chen

Affiliations

Soon will be listed here.

Abstract

Background: Neonatal sclerosing cholangitis (NSC) is a rare and severe autosomal recessive inherited liver disease with mutations in , commonly requiring liver transplantation (LT) for decompensated biliary cirrhosis in childhood.

Methods: The information of four Chinese patients with NSC caused by mutations in from Children's Hospital of Fudan University were gathered. The four patients' clinicopathological and molecular features were summarized by clinical data, liver biopsy, immunohistochemical, and molecular genetic analysis.

Results: All patients presented with jaundice, hepatosplenomegaly, hyperbilirubinemia and bile embolism, and high serum -glutamyl transferase activity (GGT). Liver biopsies revealed varying degrees of bile duct hyperplasia, portal-tract inflammation, and/or fibrosis. Whole-exome sequencing (WES) found novel heterozygous variants of c.1024-1G > T /p.? and c.544G > A /p. Gly182Arg in the .

Conclusion: This study expands the genetic spectrum of in NSC.

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