Difference between revisions of "Medical liver disease"

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Medical liver disease (view source)

Revision as of 12:15, 14 September 2015

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==Wilson disease==
==Wilson disease==
===General===
{{Main|Wilson's disease}}
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><ref name=omim606882>{{OMIM|606882}}</ref>
**Heterozygote carrier rate approximately 1/100 persons.<ref name=emedicine183456/>
*Young individuals - usually 12-23 years old.
**May have late-onset (symptomatic when >40 years old).<ref name=pmid17433323>{{Cite journal  | last1 = Ferenci | first1 = P. | last2 = Członkowska | first2 = A. | last3 = Merle | first3 = U. | last4 = Ferenc | first4 = S. | last5 = Gromadzka | first5 = G. | last6 = Yurdaydin | first6 = C. | last7 = Vogel | first7 = W. | last8 = Bruha | first8 = R. | last9 = Schmidt | first9 = HT. | title = Late-onset Wilson's disease. | journal = Gastroenterology | volume = 132 | issue = 4 | pages = 1294-8 | month = Apr | year = 2007 | doi = 10.1053/j.gastro.2007.02.057 | PMID = 17433323 }}</ref>
 
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 of the liver|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.<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:
*[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)].
 
===Additional testing===
*Mass spectrometry - determine portion of copper.


==Alpha-1 antitrypsin deficiency==
==Alpha-1 antitrypsin deficiency==
Michael
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