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Difference between revisions of "Medical liver disease"
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→Wilson's disease: more
(→Steatohepatitis: tweak, re-work) |
(→Wilson's disease: more) |
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*Alcohol. | *Alcohol. | ||
==Wilson | ==Wilson disease== | ||
===General=== | ===General=== | ||
Epidemiology: | |||
*Rare autosomal recessive - mutation in copper-transporting adenosine triphosphatase (ATPase) gene (ATP7B).<ref name=emedicine183456>[http://emedicine.medscape.com/article/183456-overview http://emedicine.medscape.com/article/183456-overview]</ref> | *Rare autosomal recessive - mutation in copper-transporting adenosine triphosphatase (ATPase) gene (ATP7B).<ref name=emedicine183456>[http://emedicine.medscape.com/article/183456-overview http://emedicine.medscape.com/article/183456-overview]</ref> | ||
**Heterozygote carrier rate approximately 1/100 persons.<ref name=emedicine183456/> | **Heterozygote carrier rate approximately 1/100 persons.<ref name=emedicine183456/> | ||
*Young individuals - usually 12-23 years old. | *Young individuals - usually 12-23 years old. | ||
Clinical: | |||
*Kayser-Fleischer rings --> on slit-lamp examination (green eyes). | *Kayser-Fleischer rings --> on slit-lamp examination (green eyes). | ||
*May present to psychiatry or appear to be abusing EtOH. | *May present to psychiatry or appear to be abusing EtOH. | ||
*Serum ceruloplasmin - lower than normal. | *Serum ceruloplasmin - lower than normal. | ||
Etiology: | |||
*Excess copper -- due to genetic defect. | *Excess copper -- due to genetic defect. | ||
===Microscopic=== | ===Microscopic=== | ||
Features: | Features: | ||
*Nothing specific. | *Nothing specific - known as the great mimicker of live pathology. | ||
*Steatosis. | *[[Steatosis of the liver|Steatosis]]. | ||
*Portal fibrosis. | *Portal fibrosis. | ||
===Stains=== | |||
*Copper staining positive | *Copper staining positive - '''only 15% of cases'''. | ||
**Other stains: rhodinine, orecin. | **Other stains: rhodinine (red/orange granules = positive), orecin. | ||
Notes: | Notes: | ||
*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> | ||
===Additional testing=== | |||
*Mass spectrometry - determine portion of copper. | |||
==Alpha-1 antitrypsin deficiency== | ==Alpha-1 antitrypsin deficiency== | ||