Difference between revisions of "Wilson's disease"
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'''Wilson disease's''' is a rare autosomal recessive genetic disease characterized by abnormal copper transportation. | '''Wilson disease's''' is a rare autosomal recessive genetic disease characterized by abnormal copper transportation. Its' presentation may be atypical. In the context of [[pathology]], it is typically seen as a [[liver biopsy]]. | ||
==General== | ==General== | ||
| Line 18: | Line 18: | ||
==Microscopic== | ==Microscopic== | ||
Features: | Features: | ||
*Nothing specific - known as the great mimicker of liver pathology. | *Nothing specific - known as the great mimicker of [[liver pathology]]. | ||
*[[Steatosis of the liver|Steatosis]]. | *[[Steatosis of the liver|Steatosis]]. | ||
*Portal fibrosis. | *Portal fibrosis. | ||
| Line 29: | Line 29: | ||
*Copper staining is a non-specific finding seen in many liver diseases; it is associated with impaired bile secretion.<ref name=pmid2464523>{{cite journal |author=Miyamura H, Nakanuma Y, Kono N |title=Survey of copper granules in liver biopsy specimens from various liver abnormalities other than Wilson's disease and biliary diseases |journal=Gastroenterol. Jpn. |volume=23 |issue=6 |pages=633–8 |year=1988 |month=December |pmid=2464523 |doi= |url=}}</ref> | *Copper staining is a non-specific finding seen in many liver diseases; it is associated with impaired bile secretion.<ref name=pmid2464523>{{cite journal |author=Miyamura H, Nakanuma Y, Kono N |title=Survey of copper granules in liver biopsy specimens from various liver abnormalities other than Wilson's disease and biliary diseases |journal=Gastroenterol. Jpn. |volume=23 |issue=6 |pages=633–8 |year=1988 |month=December |pmid=2464523 |doi= |url=}}</ref> | ||
Image | ===Image=== | ||
*[http://openi.nlm.nih.gov/legacy/detailedresult.php?img=3375662_yjbm_85_2_249_g03&req=4 Orecin staining in Wilson's diseae (nih.gov)]. | *[http://openi.nlm.nih.gov/legacy/detailedresult.php?img=3375662_yjbm_85_2_249_g03&req=4 Orecin staining in Wilson's diseae (nih.gov)]. | ||
Revision as of 12:14, 14 September 2015
Wilson disease's is a rare autosomal recessive genetic disease characterized by abnormal copper transportation. Its' presentation may be atypical. In the context of pathology, it is typically seen as a liver biopsy.
General
Epidemiology:
- Rare autosomal recessive - mutation in copper-transporting adenosine triphosphatase (ATPase) gene (ATP7B).[1][2]
- Heterozygote carrier rate approximately 1/100 persons.[1]
- Young individuals - usually 12-23 years old.
- May have late-onset (symptomatic when >40 years old).[3]
Clinical:
- Kayser-Fleischer rings --> on slit-lamp examination (green eyes).
- May present to psychiatry or appear to be abusing EtOH.
- Serum ceruloplasmin - lower than normal.
Etiology:
- Excess copper -- due to genetic defect.
Microscopic
Features:
- Nothing specific - known as the great mimicker of liver pathology.
- Steatosis.
- Portal fibrosis.
Stains
- Copper staining positive - only 15% of cases.
- Other stains: rhodinine (red/orange granules = positive), orecin.
Notes:
- Copper staining is a non-specific finding seen in many liver diseases; it is associated with impaired bile secretion.[4]
Image
Additional testing
- Mass spectrometry - determine portion of copper.
See also
References
- ↑ 1.0 1.1 http://emedicine.medscape.com/article/183456-overview
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 606882
- ↑ Ferenci, P.; Członkowska, A.; Merle, U.; Ferenc, S.; Gromadzka, G.; Yurdaydin, C.; Vogel, W.; Bruha, R. et al. (Apr 2007). "Late-onset Wilson's disease.". Gastroenterology 132 (4): 1294-8. doi:10.1053/j.gastro.2007.02.057. PMID 17433323.
- ↑ Miyamura H, Nakanuma Y, Kono N (December 1988). "Survey of copper granules in liver biopsy specimens from various liver abnormalities other than Wilson's disease and biliary diseases". Gastroenterol. Jpn. 23 (6): 633–8. PMID 2464523.