Health
Simple blood test diagnoses Parkinson's disease long before symptoms appear — A new research report appearing in the December issue of the FASEB Journal (http://www.fasebj.org) shows how scientists from the United Kingdom have developed a simple blood test to…
Early sign of Alzheimer's reversed in lab — One of the earliest known impairments caused by Alzheimer's disease - loss of sense of smell - can be restored by removing a plaque-forming protein in a mouse model of the disease,…
Parental controls on embryonic development? — When a sperm fertilises an egg, each contributes a set of chromosomes to the resulting embryo, which at these very early stages is called a zygote. Early on, zygotic genes are inert,…
Newly discovered heart stem cells make muscle and bone — Researchers have identified a new and relatively abundant pool of stem cells in the heart. The findings in the December issue of Cell Stem Cell, a Cell Press publication, show that…
BUSM researchers develop blood test to detect membranous nephropathy — Research conducted by a pair of physicians at Boston University School of Medicine (BUSM) and Boston Medical Centre (BMC) has led to the development of a test that can help diagnose…
New hip implants no better than traditional implants — New hip implants appear to have no advantage over traditional implants, suggests a review of the evidence published on bmj.com today…
Action needed to improve men's health in Europe — Policies aimed specifically at men are urgently needed to improve the health of Europe's men, say experts on bmj.com today…
Probiotics reduce infections for patients in intensive care — Traumatic brain injury is associated with a profound suppression of the patient's ability to fight infection. At the same time the patient also often suffers hyper-inflammation, due…
High blood sugar levels in older women linked to colorectal cancer — Elevated blood sugar levels are associated with an increased risk of colorectal cancer, according to a study led by researchers at Albert Einstein College of Medicine of Yeshiva University.…
Engineered botulism toxins could have broader role in medicine — The most poisonous substance on Earth - already used medically in small doses to treat certain nerve disorders and facial wrinkles - could be re-engineered for an expanded role in helping…
Where am I? > Home > News > Health

Scoring system is 93 percent accurate for diagnosing Wilson's disease in paediatric patients

Science Centric | 30 November 2010 21:36 GMT
Printable version A clip for your blog or website E-mail the story to a friend
Bookmark or share the story on your social network Vote for this article Decrease text size Increase text size
DON'T MISS —
Researchers find target for pulmonary fibrosis
Researchers find target for pulmonary fibrosis — A diagnosis of Idiopathic Pulmonary Fibrosis is not much better than a death sentence: there is no treatment and the survival…
How diarrhoeal bacteria cause some colon cancers
How diarrhoeal bacteria cause some colon cancers — Johns Hopkins scientists say they have figured out how bacteria that cause diarrhoea may also be the culprit in some colon…
More Health

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 ?g/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 40?g/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 WD - obtaining a slit lamp exam, a serum ceruloplasmin and a 24-hour urine copper followed by a liver biopsy in some patients - is useful even in young, clinically asymptomatic children,' confirmed Dr Michael Schilsky, Associate Professor of Medicine and Surgery at Yale University Medical Centre, 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 paediatric patients.'

Source: Wiley-Blackwell


Leave a comment
The details you provide on this page [e-mail address] will not be used to send unsolicited e-mail, and will not be supplied to a third party! Please note that we can not promise to give everyone a response. Comments are fully moderated. Once approved they will be posted within 24 hours.
Expand the form to leave a comment

RSS FEEDS, NEWSLETTER
Find the topic you want. Science Centric offers several RSS feeds for the News section.

Or subscribe for our Newsletter, a free e-mail publication. It is published practically every day.

Inherited risk factors increase odds of developing childhood acute lymphoblastic leukaemiaInherited risk factors increase odds of developing childhood acute lymphoblastic leukaemia

— Scientists at St. Jude Children's Research Hospital have identified inherited variations in two genes that account for 37 percent of childhood acute lymphoblastic…

Scientists create energy-burning brown fat in miceScientists create energy-burning brown fat in mice

— Researchers at Dana-Farber Cancer Institute have shown that they can engineer mouse and human cells to produce brown fat, a natural energy-burning type of fat that…

Genome of parasitic flatworm that causes schistosomiasis decodedGenome of parasitic flatworm that causes schistosomiasis decoded

— An international team of scientists has sequenced the genome of Schistosoma mansoni, a parasitic worm, commonly known as a blood fluke, that infects 210 million…

MTV survey cranks up the volume on loud music's impact on hearingMTV survey cranks up the volume on loud music's impact on hearing

— Children and adults at risk of permanent hearing loss due to repeated exposure to loud music would turn down the sound or use ear protection if told to do so by…

Popular tags in Health: cancer · diabetes · malaria · obesity