https://pubmed.ncbi.nlm.nih.gov/39552453/ cholangitis

J Pediatr Gastroenterol Nutr. 2024 Nov 18.

doi: 10.1002/jpn3.12414. Online ahead of print.

Portal hypertension in doublecortin domain-containing protein 2 (DCDC2) related neonatal sclerosing cholangitis

Prabhsaran Kaur 1, Bikrant Bihari Lal 1, Deepa Janakiraman 2, Nirmala Dheivamani 2, Snehavardhan Pandey 3, Ashish Bavdekar 4, Aashay Shah 5, Sanjeev Kumar Verma 6, Vaibhav Shah 7, Arjun Maria 8, Nishant Wadhwa 8, Sumit Kumar Singh 9, Vikrant Sood 1, Rajeev Khanna 1, Seema Alam 1

Abstract

Mutations in doublecortin domain-containing protein 2 (DCDC2) lead to neonatal sclerosing cholangitis (NSC), and portal hypertension (PHTN). The objective of the study was to systematically evaluate PHTN, variceal bleeding, and outcomes of patients with DCDC2-related NSC. The study included children with homozygous or compound heterozygous variants in DCDC2. All 14 children with DCDC2-related NSC had PHTN. Eight (57.1%) developed variceal bleed at a median age of 3 years (range: 1.9-5 years). Eleven (78.6%) children with high-risk varices underwent endotherapy. Varices were completely eradicated in three, downstaged to low-risk in five, and there was no response with endotherapy in three. All three children with failure to eradicate/downstage varices had rebleed, and required listing for liver transplantation (LT). The study shows that children with variants in DCDC2 have a high incidence of variceal bleed at a very young age. Variceal eradication may often be difficult and rebleed rates are high; often necessitating LT.