Wilson's disease diagnostic study of choice: Difference between revisions
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==Overview== | ==Overview== | ||
Wilson's disease diagnostic criteria is based on scoring | Wilson's disease [[diagnostic criteria]] is based on scoring system which includes clinical presentation, laboratory findings, and [[gene mutation]] [[analysis]]. The score of 4 or more is diagnostic for Wilson's disease. The score of 2 or less is ruling out Wilson's disease. | ||
==Diagnostic study of choice== | ==Diagnostic study of choice== | ||
===Scoring system for the diagnosis of Wilson's disease=== | ===Scoring system for the diagnosis of Wilson's disease=== | ||
* Wilson's disease is diagnosed mainly based on the clinical presentation, the laboratory findings, and gene mutation analysis. | * Wilson's disease is diagnosed mainly based on the clinical presentation, the laboratory findings, and [[Mutation|gene mutation analysis]]. | ||
* The following includes a scoring system established for the diagnosis for Wilson's disease:<ref name="pmid12955875">{{cite journal| author=Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I et al.| title=Diagnosis and phenotypic classification of Wilson disease. | journal=Liver Int | year= 2003 | volume= 23 | issue= 3 | pages= 139-42 | pmid=12955875 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12955875 }}</ref> | * The following includes a scoring system established for the diagnosis for Wilson's disease:<ref name="pmid12955875">{{cite journal| author=Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I et al.| title=Diagnosis and phenotypic classification of Wilson disease. | journal=Liver Int | year= 2003 | volume= 23 | issue= 3 | pages= 139-42 | pmid=12955875 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12955875 }}</ref> | ||
** Clinical presentation: | ** Clinical presentation: | ||
*** Kayser-Fleischer rings: | *** [[Kayser-Fleischer ring|Kayser-Fleischer rings]]: | ||
**** Present: 2 | **** Present: 2 | ||
**** Not present: 0 | **** Not present: 0 | ||
*** Neurologic manifestations: | *** [[Neurologic]] manifestations: | ||
**** Severe: 2 | **** Severe: 2 | ||
**** Mild: 1 | **** Mild: 1 | ||
**** Not present: 0 | **** Not present: 0 | ||
** | ** Laboratory findings: | ||
*** Serum ceruloplasmin: | *** [[Ceruloplasmin|Serum ceruloplasmin]]: | ||
**** Less than 0.1 g/L: 2 | **** Less than 0.1 g/L: 2 | ||
**** 0.1-0.2 g/L: 1 | **** 0.1-0.2 g/L: 1 | ||
**** Normal (more than 0.2 g/L): 0 | **** Normal (more than 0.2 g/L): 0 | ||
*** Coombs negative hemolytic anemia: | *** Coombs negative [[hemolytic anemia]]: | ||
**** Present: 2 | **** Present: 2 | ||
**** Not present: 0 | **** Not present: 0 | ||
*** Liver copper: | *** [[Liver]] [[copper]]: | ||
**** More than 4 micromol/g: 2 | **** More than 4 micromol/g: 2 | ||
**** 0.8-4 micromol/g: 1 | **** 0.8-4 micromol/g: 1 | ||
Revision as of 15:59, 3 January 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ahmed Elsaiey, MBBCH [2]
Overview
Wilson's disease diagnostic criteria is based on scoring system which includes clinical presentation, laboratory findings, and gene mutation analysis. The score of 4 or more is diagnostic for Wilson's disease. The score of 2 or less is ruling out Wilson's disease.
Diagnostic study of choice
Scoring system for the diagnosis of Wilson's disease
- Wilson's disease is diagnosed mainly based on the clinical presentation, the laboratory findings, and gene mutation analysis.
- The following includes a scoring system established for the diagnosis for Wilson's disease:[1]
- Clinical presentation:
- Kayser-Fleischer rings:
- Present: 2
- Not present: 0
- Neurologic manifestations:
- Severe: 2
- Mild: 1
- Not present: 0
- Kayser-Fleischer rings:
- Laboratory findings:
- Serum ceruloplasmin:
- Less than 0.1 g/L: 2
- 0.1-0.2 g/L: 1
- Normal (more than 0.2 g/L): 0
- Coombs negative hemolytic anemia:
- Present: 2
- Not present: 0
- Liver copper:
- More than 4 micromol/g: 2
- 0.8-4 micromol/g: 1
- Less than0.8 micromol/g: -1
- Rhodanine positive hepatocytes (in case copper level measurment is not available):
- Present: 1
- Not present: 0
- Urinary copper:
- More than 2x ULN: 2
- 1-2X ULN: 1
- Normal: 0
- Normal but >5x ULN after D-penicillamine: 2
- Serum ceruloplasmin:
- Gene mutation analysis:
- Mutation detected on both chromosomes: 4
- Mutation detected on one chromosome: 2
- No mutations detected: 0
- Conclusion of the score:
- If the score is 4 or more: Diagnosis established
- If the score is 3: More tests needed to diganose Wilson's disease
- If the score is 2 or less: Diagnosis of Wilson's disease is unlikely
- Clinical presentation:
References
- ↑ Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I; et al. (2003). "Diagnosis and phenotypic classification of Wilson disease". Liver Int. 23 (3): 139–42. PMID 12955875.