Navigation Links
Scoring system is 93 percent accurate for diagnosing Wilson's disease in pediatric patients
Date:11/30/2010

An Italian research team confirmed that the scoring system for Wilson's disease (WD) provides good diagnostic accuracy with 93% positive and 92% negative predictive values, respectively in children with mild liver disease. In asymptomatic children, a urinary copper excretion above 40 μg/24 hours was suggestive of WD, however the penicillamine challenge test (PCT) did not provide an accurate diagnosis in this patient subset. Results of the study appear in the December issue of Hepatology, a journal published by Wiley-Blackwell on behalf of the American Association for the Study of Liver Diseases (AASLD).

WD is a rare genetic disorder where excessive amounts of copper accumulate in the liver, kidneys, brain, and eyes (cornea). Patients may experience a brown ring (Kayser-Fleischer ring) around the cornea of the eye, various liver diseases, slurred speech, and tremors, with symptoms appearing between the ages of 5 to 35. According to the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) approximately one in 40,000 individuals develop WD, which affects men and women equally.

A prompt diagnosis of WD is vital to avoid rapid progression of liver and neurological damage. "Unfortunately, diagnosis of WD is a challenging task, especially in childhood, because conventional criteria established for adults are not always appropriate for children," explained Raffaele Iorio, M.D., of the University Federico II in Italy and lead author of the study.

In order to evaluate the current standard diagnostic criteria and WD scoring system, the research team collected data on 40 children with WD and 58 children with liver disease other than WD, ranging in age from 1 to 21 years of age. Both groups were symptom-free with the predominant sign of liver disease being elevated aminotransferases (higher levels of enzymes from liver cells that when released into the blood, signify liver disease). Molecular analysis and liver copper content test were also performed to confirm the WD diagnosis.

Results showed the optimal urinary copper diagnostic was 40μg/24h which had a sensitivity of 79% and specificity of 88%. Researchers found no significant difference in urinary copper after PCT in either WD patients or control subjects. "The data found by Iorio et al. demonstrates that the current AASLD guideline approach to the diagnosis of WDobtaining a slit lamp exam, a serum ceruloplasmin and a 24-hour urine copper followed by a liver biopsy in some patientsis useful even in young, clinically asymptomatic children," confirmed Dr. Michael Schilsky, Associate Professor of Medicine and Surgery at Yale University Medical Center, in his and Dr. Rosencrantz's editorial also publishing this month in Hepatology.

Dr. Iorio concluded, "Establishing a WD diagnosis in children with mild liver disease is often problematic. Our study determined that genetic diagnosis is critical and the WD scoring system is a reliable method of analysis for these pediatric patients."


'/>"/>

Contact: Dawn Peters
healthnews@wiley.com
781-388-8408
Wiley-Blackwell
Source:Eurekalert

Related medicine news :

1. Sporadic breast cancers start with ineffective DNA repair systems, Pitt researchers find
2. Too Much Hygiene May Affect Immune System, Study Suggests
3. Poll analysis: Americans have conflicting views about spending on public health system
4. Immune systems bare essentials used to speedily detect drug targets
5. Organic solvent system may improve catalyst recycling and create new nanomedicine uses
6. Brains Error-Detection System Demystified
7. Genomic Systems announces moratorium on studying and treating terminal cancer has ended
8. Nutrition rating enhancing front-of-package nutrition rating systems and symbols: Phase 1
9. Front-of-package symbols and systems: IOM phase 1 report
10. Cell survival protein discovery rewrites immune system story
11. Melanoma uses bodys immune system to spread to lungs
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/24/2016)... ... June 24, 2016 , ... Topical BioMedics, Inc, makers of Topricin and MyPainAway Pain Relief ... a minimum wage raise to $12 an hour by 2020 and then adjusting it yearly ... lost value of the minimum wage, assure the wage floor does not erode again, and ...
(Date:6/24/2016)... ... June 24, 2016 , ... ... to recognize Dr. Barry M. Weintraub as a prominent plastic surgeon and the ... in the world, and the most handsome men, look naturally attractive. Plastic surgery ...
(Date:6/24/2016)... , ... June 24, 2016 , ... National recruitment firm ... life sciences executive with extensive sequencing and genomics experience, as Vice President of North ... Ms. Hill will be responsible for leading the sales team in the commercialization of ...
(Date:6/24/2016)... Gilbert, Arizona (PRWEB) , ... June 24, 2016 ... ... Gilbert-based practice, is supporting the upcoming 2016 Miss Arizona pageant as its official ... primarily serves Scottsdale, Tempe, Mesa, and Chandler, Arizona. , Dr. Olson says ...
(Date:6/24/2016)... IL (PRWEB) , ... June 24, 2016 , ... ... Beard, DDS, and Randall Markarian, DDS, are co-chairs for the Illinois State Dental ... clinic Friday-Saturday, July 15-16 at the Gateway Convention Center in Collinsville. ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... , June 24, 2016 ... appointment of Dr. Edward Futcher to ... Director, effective June 23, 2016.Dr. Futcher was also ... and Governance Committees.  As a non-executive member of ... expertise and strategic counsel to VolitionRx in connection ...
(Date:6/23/2016)... BEVERLY HILLS, Calif. , June 23, 2016 ... faced the many challenges of the current process. Many of ... option because of the technical difficulties and high laboratory costs ... would have to offer it at such a high cost ... to afford it. Dr. Parsa Zadeh , ...
(Date:6/23/2016)... Research and Markets has announced the addition of ... Forecast to 2022" report to their offering. ... date financial data derived from varied research sources to present ... impact on the market during the next five years, including ... sub markets, regional and country level analysis. The report provides ...
Breaking Medicine Technology: