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Difference between revisions of "Medical liver disease"
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→Wilson's disease
(→Primary sclerosing cholangitis: more) |
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==Wilson's disease== | ==Wilson's disease== | ||
===Epidemiology=== | ===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=== | ====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=== | ====Etiology==== | ||
*Excess copper -- due to genetic defect. | *Excess copper -- due to genetic defect. | ||
=== | ===Microscopic=== | ||
Features: | |||
*Nothing specific. | *Nothing specific. | ||
*Steatosis. | *Steatosis. | ||
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*Copper staining positive in ONLY 15%. | *Copper staining positive in ONLY 15%. | ||
**Other stains: rhodinine, orecin. | **Other stains: rhodinine, orecin. | ||
==Alpha-1 antitrypsin deficiency== | ==Alpha-1 antitrypsin deficiency== | ||