Wilson's disease laboratory findings: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Template:Wilson's disease}} | {{Template:Wilson's disease}} | ||
{{CMG}}; {{AE}} {{AEL}} | {{CMG}} {{shyam}}; {{AE}} {{AEL}} | ||
== Overview == | == Overview == | ||
Laboratory findings suggestive for Wilson's disease include | Laboratory findings suggestive for Wilson's disease include low [[ceruloplasmin]] level, high [[Copper|serum copper]] concentration and high [[urinary]] excretion of the [[copper]]. | ||
== Laboratory findings== | == Laboratory findings== | ||
* Laboratory tests are important in cases presenting with impaired [[Liver function tests|liver functions]] and [[neurological]] impairment which increase suspicion against Wilson's disease. | * Laboratory tests are important in cases presenting with impaired [[Liver function tests|liver functions]] and [[neurological]] impairment which increase suspicion against Wilson's disease. | ||
* [[Liver function tests]] show nonspecific increase of the [[liver enzymes]] [[aspartate transaminase]] and [[alanine transaminase]]. The [[bilirubin]] is elevated as well. | * [[Liver function tests]] show nonspecific increase of the [[liver enzymes]] [[aspartate transaminase]] and [[alanine transaminase]]. The [[bilirubin]] is elevated as well. | ||
* The following laboratory test are recommended to diagnose Wilson's disease:<ref name="pmid12774027">{{cite journal| author=Roberts EA, Schilsky ML, Division of Gastroenterology and Nutrition, Hospital for Sick Children, Toronto, Ontario, Canada| title=A practice guideline on Wilson disease. | journal=Hepatology | year= 2003 | volume= 37 | issue= 6 | pages= 1475-92 | pmid=12774027 | doi=10.1053/jhep.2003.50252 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12774027 }}</ref> | * The following laboratory test are recommended to diagnose Wilson's disease:<ref name="pmid12774027">{{cite journal| author=Roberts EA, Schilsky ML, Division of Gastroenterology and Nutrition, Hospital for Sick Children, Toronto, Ontario, Canada| title=A practice guideline on Wilson disease. | journal=Hepatology | year= 2003 | volume= 37 | issue= 6 | pages= 1475-92 | pmid=12774027 | doi=10.1053/jhep.2003.50252 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12774027 }}</ref><ref name="pmid7708681">{{cite journal| author=Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RT, Gitlin JD| title=Aceruloplasminemia: molecular characterization of this disorder of iron metabolism. | journal=Proc Natl Acad Sci U S A | year= 1995 | volume= 92 | issue= 7 | pages= 2539-43 | pmid=7708681 | doi= | pmc=42253 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7708681 }}</ref> | ||
** [[Ceruloplasmin]] level | ** [[Ceruloplasmin]] level | ||
** [[Copper|Serum copper]] concentration | ** [[Copper|Serum copper]] concentration | ||
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* In patients suspected with Wilson's disease, the [[urine]] should be collected for 24 hours in order to be examined for the [[copper]] concentration. | * In patients suspected with Wilson's disease, the [[urine]] should be collected for 24 hours in order to be examined for the [[copper]] concentration. | ||
* Copper level in urine more than 100 μg/24h is suggestive for Wilson's disease. However, it is not specific for Wilson's disease and may be elevated in other diseases as [[autoimmune hepatitis]] and [[cholestasis]]. | * Copper level in urine more than 100 μg/24h is suggestive for Wilson's disease. However, it is not specific for Wilson's disease and may be elevated in other diseases as [[autoimmune hepatitis]] and [[cholestasis]]. | ||
=== Liver function testing === | |||
* In patients with Wilson's disease, liver function testing will be abnormal. This includes AST, ALT, total bilirubin, and alkaline phosphatase. | |||
== References == | == References == | ||
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[[Category:Gastroenterology]] | |||
[[Category:Hematology]] | |||
[[Category:Medicine]] | |||
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Latest revision as of 18:42, 1 January 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [3]
Overview
Laboratory findings suggestive for Wilson's disease include low ceruloplasmin level, high serum copper concentration and high urinary excretion of the copper.
Laboratory findings
- Laboratory tests are important in cases presenting with impaired liver functions and neurological impairment which increase suspicion against Wilson's disease.
- Liver function tests show nonspecific increase of the liver enzymes aspartate transaminase and alanine transaminase. The bilirubin is elevated as well.
- The following laboratory test are recommended to diagnose Wilson's disease:[1][2]
- Ceruloplasmin level
- Serum copper concentration
- Urinary excretion of the copper (24hr monitoring)
Ceruloplasmin level
- Most of the patients with Wilson's disease will show a low serum level of ceruloplasmin (less than 20mg/dl). However, low ceruloplasmin level only is not sufficient for provisional diagnosis of Wilson's disease.
- Low ceruloplasmin level in patients whose examination shows Kayser-Fleischer ring and neurologic manifestations is diagnostic for Wilson's disease.
Serum copper concentration
- Patients with Wilson's disease will have high level of total body concentration of the copper regardless the copper overload.
Urinary excretion of the copper
- In patients suspected with Wilson's disease, the urine should be collected for 24 hours in order to be examined for the copper concentration.
- Copper level in urine more than 100 μg/24h is suggestive for Wilson's disease. However, it is not specific for Wilson's disease and may be elevated in other diseases as autoimmune hepatitis and cholestasis.
Liver function testing
- In patients with Wilson's disease, liver function testing will be abnormal. This includes AST, ALT, total bilirubin, and alkaline phosphatase.
References
- ↑ Roberts EA, Schilsky ML, Division of Gastroenterology and Nutrition, Hospital for Sick Children, Toronto, Ontario, Canada (2003). "A practice guideline on Wilson disease". Hepatology. 37 (6): 1475–92. doi:10.1053/jhep.2003.50252. PMID 12774027.
- ↑ Harris ZL, Takahashi Y, Miyajima H, Serizawa M, MacGillivray RT, Gitlin JD (1995). "Aceruloplasminemia: molecular characterization of this disorder of iron metabolism". Proc Natl Acad Sci U S A. 92 (7): 2539–43. PMC 42253. PMID 7708681.