Isolated neonatal sclerosing cholangitis

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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 July 2024

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Isolated neonatal sclerosing cholangitis?

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Help Hope Live

Help Hope Live supports community-based fundraising for people with unmet medical expenses and related costs due to cell and organ transplants or catastrophic injuries and illnesses. These efforts play a critical role in helping clients access the care and equipment they need to heal, live, and thrive. Unlock a powerful and safe way to raise funds for medical needs with Help Hope Live. They provide one-on-one fundraising guidance, a customizable Campaign Page, bill pay support, and additional benefits based on their 501(c)(3) nonprofit status.

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