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. It presentation may be atypical.
'''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==
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==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.
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*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:

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. 1.0 1.1 http://emedicine.medscape.com/article/183456-overview
  2. Online 'Mendelian Inheritance in Man' (OMIM) 606882
  3. 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.
  4. 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.

External links