Wilson's disease other diagnostic studies
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Other diagnostic studies
Liver biopsy
- Liver biopsy is performed in suspected cases of Wilson's disease.
- Histological examination of a liver biopsy may show the following:[1]
- Mild steatosis which is considered an early histological feature
- Glycogenated hepatic nuclei
- Hepatocellular necrosis
- Autoimmune hepatitis histologic features
- Fibrosis and cirrhosis (macronodular or micronodular) in advanced cases
- Fulminant liver falilure features which include:
- Hepatocellular degenration
- Parenchymal collapse
Genetic testing
- Genetic testing is recommended for the diagnosis of Wilson's disease. Haplotypes pedigree analysis among the family members can be performed to obtain the family history of Wilson's disease.[2]
- Prenatal genetic testing is also required for early diagnosis of Wilson's disease.
References
- ↑ Kim TJ, Kim IO, Kim WS, Cheon JE, Moon SG, Kwon JW; et al. (2006). "MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation". AJNR Am J Neuroradiol. 27 (6): 1373–8. PMID 16775300.
- ↑ Kim TJ, Kim IO, Kim WS, Cheon JE, Moon SG, Kwon JW; et al. (2006). "MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation". AJNR Am J Neuroradiol. 27 (6): 1373–8. PMID 16775300.