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Therapeutic and management challenges in Wilson's disease
Author(s) -
BAVDEKAR ASHISH
Publication year - 2004
Publication title -
journal of gastroenterology and hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.214
H-Index - 130
eISSN - 1440-1746
pISSN - 0815-9319
DOI - 10.1111/j.1440-1746.2004.03709.x
Subject(s) - medicine , wilson's disease , disease , fulminant , liver transplantation , fulminant hepatic failure , penicillamine , hemolytic anemia , gastroenterology , differential diagnosis , transplantation , pediatrics , intensive care medicine , pathology
Wilson's disease, an inborn error of copper metabolism, is an important cause of liver disease in India. A high index of suspicion is necessary for diagnosis as it can have a varied clinical presentation (e.g. all forms of acute and chronic liver disease, minimal to severe neurological disease, bony deformities, hemolytic anemia). Hepatic copper estimation is the most reliable diagnostic test, but is not easily available in India. In the absence of hepatic copper, a low ceruloplasmin, high 24 h urinary copper and presence of KF rings aid in making the diagnosis (at least two of these). Life‐long therapy is necessary with D‐Penicillamine, Trientine or zinc. Though response to therapy may be unpredictable, acute and early presentations such as fulminant hepatic failure have a poor outcome without liver transplantation. The siblings of all cases must be screened, as early diagnosis and treatment results in a good outcome. The identification of the Wilson's disease gene on chromosome 13 has led to the possible use of molecular genetics (haplotype and mutational analyses) in the diagnosis of the disease.