Wilson's disease other diagnostic studies: Difference between revisions
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==Other diagnostic studies== | ==Other diagnostic studies== | ||
===Liver biopsy=== | ===Liver biopsy=== | ||
* Liver biopsy is performed in suspected cases of Wilson's disease. | |||
* Histological examination of a liver biopsy may show the following:<ref name="pmid167753002">{{cite journal| author=Kim TJ, Kim IO, Kim WS, Cheon JE, Moon SG, Kwon JW et al.| title=MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation. | journal=AJNR Am J Neuroradiol | year= 2006 | volume= 27 | issue= 6 | pages= 1373-8 | pmid=16775300 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16775300 }}</ref> | |||
** 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=== | ||
* 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.<ref name="pmid16775300">{{cite journal| author=Kim TJ, Kim IO, Kim WS, Cheon JE, Moon SG, Kwon JW et al.| title=MR imaging of the brain in Wilson disease of childhood: findings before and after treatment with clinical correlation. | journal=AJNR Am J Neuroradiol | year= 2006 | volume= 27 | issue= 6 | pages= 1373-8 | pmid=16775300 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=16775300 }}</ref> | |||
* Prenatal genetic testing is also required for early diagnosis of Wilson's disease. | |||
==References== | ==References== | ||
Revision as of 20:17, 19 December 2017
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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.