Isolated neonatal sclerosing cholangitis
Isolated neonatal sclerosing cholangitis is a rare genetic biliary tract disease characterized by severe neonatal-onset cholangiopathy with patent bile ducts and absence of ichthyosiform skin lesions. Patients present with jaundice acholic stools hepatosplenomegaly and high serum gamma-glutamyltransferase activity. Liver histology shows portal fibrosis ductular proliferation hepatocellular metallothionein deposits and intralobular bile-pigment accumulations. Some patients may also have renal disease.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Isolated neonatal sclerosing cholangitis?
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