Table of Content Volume 16 Issue 1 - October 2020
Primary sclerosing cholangitis with down syndrome
Mustafa Taskeen1*, Dileep Kadam2, Shilpa Sule3, Rajvardhan Shelke4, Dhairyasheel Patil5
1Junior Resident, Department Of Medicine, 2Professor, 3Associate Professor, 4Lecturer, 5Junior Resident, Department of Medicine, SKNMC & GH Pune, Maharashtra, INDIA. Email: drmustafataskeen@gmail.com
Abstract Background: Primary sclerosing cholangitis (PSC) is a chronic liver disease of unknown etiology characterized by the progressive inflammation, liver fibrosis, and multifocal biliary duct stenosis leads to progressive alternating biliary duct stricturing and dilatation and eventually cirrhosis requiring liver transplantation. Down syndrome is a common chromosomal anomaly associated with multiple congenital malformations and a commonly known genetic cause of intellectual disability humans. There have been many reports of the association of thyroid disease, coeliac disease, and type 1 diabetes mellitus with Down syndrome. Association with primary sclerosing cholangitis is very rare, till now only 3 cases have been reported so far. We report primary sclerosing cholangitis in a patient with Down syndrome. Key Word: down syndrome. |
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