Wilson's disease other diagnostic studies: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Template:Wilson's disease}} | {{Template:Wilson's disease}} | ||
{{CMG}} | {{CMG}} {{shyam}}; {{AE}} {{AEL}} | ||
==Overview== | ==Overview== | ||
[[Liver]] biopsy is performed in suspected cases of Wilson's disease as it may show many histopathological features. Liver biopsy may show mild [[steatosis]], [[Hepatocellular carcinoma|hepatocellular]] necrosis, macronodular [[cirrhosis]], and [[Acute liver failure|fulminant liver failure]] features as parenchymal collapse. [[Genetics|Genetic]] testing is also recommended in Wilson's disease to obtain the family history of the disease and for early detection. | |||
==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 | |||
** [[Autoimmune hepatitis]] histologic features | |||
** [[Fibrosis]] and [[cirrhosis]] (macronodular or micronodular) in advanced cases | |||
** [[Fulminant liver failure]] features which include: | |||
*** Hepatocellular degeneration | |||
*** 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.<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== | ||
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{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
[[Category:Gastroenterology]] | |||
[[Category:Hematology]] | |||
[[Category:Medicine]] | |||
[[Category:Up-To-Date]] | |||
Latest revision as of 18:48, 1 January 2019
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Wilson's disease Microchapters |
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Wilson's disease other diagnostic studies On the Web |
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American Roentgen Ray Society Images of Wilson's disease other diagnostic studies |
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Risk calculators and risk factors for Wilson's disease other diagnostic studies |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [3]
Overview
Liver biopsy is performed in suspected cases of Wilson's disease as it may show many histopathological features. Liver biopsy may show mild steatosis, hepatocellular necrosis, macronodular cirrhosis, and fulminant liver failure features as parenchymal collapse. Genetic testing is also recommended in Wilson's disease to obtain the family history of the disease and for early detection.
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
- Autoimmune hepatitis histologic features
- Fibrosis and cirrhosis (macronodular or micronodular) in advanced cases
- Fulminant liver failure features which include:
- Hepatocellular degeneration
- 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.