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:2/11/2016)... (PRWEB) , ... February 11, 2016 , ... Florida Hospital ... Lightning take on the St. Louis Blues at the Amalie Arena. The puck drops ... inflatable, walk-through heart exhibit, the MEGA Heart, prior to the game. The MEGA Heart ...
(Date:2/11/2016)... ... , ... The president released a FY 2017 budget request on Tuesday that ... the cost burden to military beneficiaries. , MOAA’s president, retired Air Force Lt. ... including limited quantifiable benefit fixes mixed with numerous beneficiary fee hikes. , “We were ...
(Date:2/11/2016)... Petersburg, FL (PRWEB) , ... February 11, 2016 ... ... providers and advocates will discuss how to improve care by making data on ... pediatric heart disease. The Summit on Transparency and Public Reporting of Pediatric and ...
(Date:2/11/2016)... ... February 11, 2016 , ... Atlantic Information Services, ... Benefit Model: A Case Study for Plans and Purchasers.” Executives from Intel Corp. ... with Intel on value-based health benefits program Connected Care, will discuss the challenges ...
(Date:2/11/2016)... ... 11, 2016 , ... "What holds you back from ... a question as a challenge for his readers to examine the full scale ... (published by Partridge Singapore), Clarke explores the subject with more depth, revealing time-honored ...
Breaking Medicine News(10 mins):
(Date:2/11/2016)... -- Governor Andrew M. Cuomo today announced a major expansion ... Western New York . This announcement, made ... includes a major expansion of Athenex,s North American headquarters ... , as well as the creation of a state-of-the-art, ... . The combined projects are expected to yield ...
(Date:2/11/2016)... Potrero Medical, Inc., the developer of the Accuryn™ ... of George M. Rapier, III , MD, to its ... , WellMed is one of the nation,s largest physician owned ... in Texas and Florida ... own internal medicine practice, he has been instrumental to the ...
(Date:2/11/2016)... Feb. 11, 2016  MiMedx Group, Inc. (NASDAQ: ... amniotic membrane and other birth tissues, human skin and ... and market advanced products and therapies, announced today that ... Global Healthcare Conference in New York ... Michael J. Senken , Chief Financial Officer and ...
Breaking Medicine Technology: