Neonatal sclerosing cholangitis
Keywords:
Neonatal sclerosing cholangitis, Children, MutationAbstract
Background: Neonatal sclerosing cholangitis (NSC) is a rare autosomal recessive disorder with severe liver disease caused by homozygous or compound heterozygous mutation in DCDC2/CLDN1 mutations. We aim to describe the clinical findings and molecular data in eight Pakistani children with DCDC2 and CLDN1 mutations.
Methods: This is a retrospective observational study conducted at the department of Pediatric Gastroenterology & Hepatology, The Children’s hospital & University of Child Health Sciences, Lahore, Pakistan. All cases of NSC confirmed on molecular testing, under 18-year of age were included in the study. Their demographic, clinical and laboratory data were collected and analyzed.
Results: There were total ten children from seven unrelated families with the genetic diagnosis of neonatal sclerosing cholangitis. Eight had biallelic mutations in DCDC2 and two had CLDN1 mutations confirming the diagnosis of NSC. There were eight males with 100% consanguinity rate. The mean age at diagnosis was 7.3±3.4 years, while the mean age of onset of symptoms was 1.8±0.75 months. All of them had neonatal cholestasis and progressively increasing jaundice after neonatal age with acholic stools and progressed to chronic liver disease without any clear diagnosis. Their mean liver and spleen span were 7.6±1.0 cm and 6.5±2.5 cm respectively. Hyperbilirubinemia with markedly elevated GGT, deranged liver enzymes and histopathological diagnosis of portal fibrosis were the main laboratory findings. Endoscopic findings of early portal hypertension were noted. All were managed with fat soluble vitamins, ursodeoxycholic acid and successive endoscopic band ligation and were stable except two children requiring liver transplant in the last two years.
Conclusion: Neonatal sclerosing cholangitis is a rare condition presenting with jaundice, pale stools, severe liver disease and elevated GGT in highly consanguineous families. Molecular testing can make a difference among other conditions presenting with similar symptoms
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Copyright (c) 2024 Syeda Sara batool Hamdani, Muhammad Nadeem Anjum, Muhammad Arshad Alvi, Zafar Fayyaz, Sadaqat Ijaz, Tehreem Fatima (Author)
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