Neonatal sclerosing cholangitis with novel mutations in DCDC2 (doublecortin domain-containing protein 2) in Chinese children

• DOI: 10.3389/fped.2023.1094895
• Publication Date: 2023-02-03T05:19:59Z
• Authors: Xia Wei; Yuan Fang; Jian-She Wang; Yi-Zhen Wang; Yuan Zhang; Kuerbanjiang Abud...; Lian Chen
• Keywords: Hepatosplenomegaly

Neonatal sclerosing cholangitis (NSC) is a rare and severe autosomal recessive inherited liver disease with mutations in DCDC2, commonly requiring transplantation (LT) for decompensated biliary cirrhosis childhood.The information of four Chinese patients NSC caused by DCDC2 from Children's Hospital Fudan University were gathered. The patients' clinicopathological molecular features summarized clinical data, biopsy, immunohistochemical, genetic analysis.All presented jaundice, hepatosplenomegaly, hyperbilirubinemia bile embolism, high serum γ-glutamyl transferase activity (GGT). Liver biopsies revealed varying degrees duct hyperplasia, portal-tract inflammation, and/or fibrosis. Whole-exome sequencing (WES) found novel heterozygous variants c.1024-1G > T /p.? c.544G A /p. Gly182Arg the DCDC2.This study expands spectrum NSC.