Wilson's disease other diagnostic studies: Difference between revisions
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==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 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. | [[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. | * 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> | * 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 | ** Mild steatosis which is considered an early histological feature | ||
** Glycogenated hepatic nuclei | ** Glycogenated [[hepatic]] nuclei | ||
** Autoimmune hepatitis histologic features | ** [[Autoimmune hepatitis]] histologic features | ||
** Fibrosis and cirrhosis (macronodular or micronodular) in advanced cases | ** [[Fibrosis]] and [[cirrhosis]] (macronodular or micronodular) in advanced cases | ||
** Fulminant liver failure features which include: | ** [[Fulminant liver failure]] features which include: | ||
*** Hepatocellular degenration | *** Hepatocellular degenration | ||
*** Parenchymal collapse | *** Parenchymal collapse | ||
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===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> | * 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. | * Prenatal [[genetic testing]] is also required for early diagnosis of Wilson's disease. | ||
==References== | ==References== |
Revision as of 17:28, 3 January 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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 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.