Navigation Links
Scoring system is 93 percent accurate for diagnosing Wilson's disease in pediatric patients

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

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:
(Date:10/13/2017)... ... October 13, 2017 , ... Yisrayl Hawkins, Pastor and Overseer at The House ... most popular and least understood books in the Holy Scriptures, Revelation. The Book of ... baffled scholars for centuries. Many have tossed it off as mere rubbish, but Yisrayl ...
(Date:10/13/2017)... ... ... “The Journey: From the Mountains to the Mission Field”: the story of a missionary ... Journey: From the Mountains to the Mission Field” is the creation of published author, ... ages and currently teaches a class of ladies at her church, which she has ...
(Date:10/12/2017)... ... October 12, 2017 , ... CitiDent ... sleep apnea using cutting-edge Oventus O2Vent technology. As many as 18 million ... by frequent cessation in breathing. Oral appliances can offer significant relief to about ...
(Date:10/12/2017)... ... , ... IsoComforter, Inc. ( ), one of the Nation’s ... design of the shoulder pad. The shoulder pad provides optimal support and full ... while using cold therapy. By utilizing ice and water that is circulated from an ...
(Date:10/12/2017)... ... October 12, 2017 , ... ... system that we intend to develop to enable prevention of a major side ... severe hearing loss, especially in pediatric patients. For cisplatin, hearing loss is FDA ...
Breaking Medicine News(10 mins):
(Date:10/11/2017)... Texas , Oct. 11, 2017  True ... services, has amplified its effort during National Breast ... about hereditary cancer risks. ... of Clinical Oncology calculated that more than 10 ... have inherited mutations in BRCA1 or BRCA2 and have ...
(Date:10/7/2017)... Oct. 6, 2017   Provista, a proven ... $100 billion in purchasing power, today announced a new ... The Newsroom is the online home for ... infographics, expert bios, news releases, slideshows and events. ... a wealth of resources at their fingertips, viewers can ...
(Date:10/4/2017)... 2017 OBP Medical , a ... devices, today announced regulatory approval from ... Agência Nacional de Vigilância Sanitária (ANVISA)) to market ... retractor with integrated LED light source and smoke ... exposure of a tissue pocket or cavity during ...
Breaking Medicine Technology: