Navigation Links
About 15 percent of patients with Wolfram syndrome do not meet current diagnostic criteria
Date:2/28/2013

Researchers at IDIBELL and CIBERER Virginia Nunes and Miguel Lpez de Heredia have collected data from 400 patients with Wolfram syndrome published worldwide in the last fifteen years to better understand the natural history of disease. The findings lead them to propose a revision of the diagnostic criteria of the disease because 15% of paediatric patients escape from diagnosis.

The results of this review have been published this week in the online edition of the journal Genetics in Medicine to coincide with the World Day of rare diseases, on February 28th. These rare or minority disorders affect 350 million people worlwide. 80% of these diseases, as Wolfram syndrome, are genetic and half of them are pediatric.

Current criteria

Wolfram syndrome is a recessive a rare, progressive and neurodegenerative disease. It is characterized by the appearance of different diseases in the patient's life: diabetes, optic atrophy, diabetes insipidus, deafness and other nephrological and neurological disorders. Mutations in the WFS1 gene are responsible for these diseases.

Currently, clinical features leading to suspect that a patient suffers Wolfram syndrome are diabetes and optic atrophy in young age (before age 18). The diagnosis is confirmed by genetic analysis.

"Of the 400 patients studied worldwide, 85% showed these two characteristics. This means that 15% of patients are beyond the diagnosis and the treatment will not start until much later", the researcher Virginia Nunes explained. "We believe that if we expand the diagnostic criteria of the disease to the identification of two of the four clinical features of the disease -diabetes mellitus, optic atrophy, diabetes insipidus and deafness-, we would diagnose up to 98% of patients."

Wolfram syndrome Progression

The study made by IDIBELL researchers correlates different WFS1 mutations and clinical characteristics of patients. "We have found different mutations associated with the disease progression. It is the first time we describe the disease progression" explains the leading researcher Miguel Lpez de Heredia.

Lopez de Heredia explains that "this study is only a first approximation. We must keep in mind that we have studied all the publications of Wolfram syndrome patients published during the last 15 years, made with different methodologies and criteria. There is a lack of homogeneity in the data."

Precisely for this reason it is important the work being done in the European and Spanish registres of rare diseases. "There we have all the information," says Nunes, "now we need to work with more data. And one of the problems of the research on rare diseases is to obtain a sufficient number of samples to be useful in the research".


'/>"/>

Contact: Arantxa Mena
comunicacio@idibell.cat
IDIBELL-Bellvitge Biomedical Research Institute
Source:Eurekalert

Related medicine news :

1. What can Hollywood teach us about our planet?
2. Stress about wifes breast cancer can harm a mans health
3. Concerns about MRSA for expectant mothers may be unfounded
4. Adjusting Your Attitude About Chronic Pain May Help You Sleep
5. Moffitt researchers find adolescents with cancer concerned about their future reproductive health
6. About 1 baby born each hour addicted to opiate drugs in U.S., U-M study shows
7. People Love Talking About Themselves, Brain Scans Show
8. What does Islam say about the fate of others?
9. Listening in, researchers learn about end-of-life communication
10. Researchers at IRB Barcelona uncover new clues about the origin of cancer
11. San Francisco Bath Salt Company Clears Air About Bath Salt Confusion – Zombies Beware!
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/13/2017)... ... October 13, 2017 , ... The American Board of Family Medicine's (ABFM) Board ... Chief Executive Officer, succeeding Dr. James C. Puffer upon his retirement. Dr. Newton will ... Dr. Puffer’s retirement at the end of 2018. Upon assuming the role of President ...
(Date:10/13/2017)... ... October 13, 2017 , ... PurhealthRX , a leading Health and ... Applying the Purzorb™process to full spectrum CBD oil will revolutionize the rapidly growing CBD ... that can be easily incorporated into liquid products, while reducing costs to end users. ...
(Date:10/13/2017)... ... October 13, 2017 , ... Lori R. Somekh, founder ... of ElderCounsel, a national organization of elder law and special needs planning attorneys. “Membership ... rules. It also provides a forum to network with elder law attorneys nationwide,” said ...
(Date:10/13/2017)... LUIS OBISPO, Calif. (PRWEB) , ... October 13, 2017 , ... ... Alzheimer’s or dementia. However, many long-term care insurance companies have a waiver for care ... is the 90-day elimination period, when the family pays for care, is often waived, ...
(Date:10/13/2017)... New York, NY (PRWEB) , ... October 13, 2017 , ... ... most influential people in business to advocate for action towards gender equality at their ... 18,000 views from around the globe, and reached a social audience of over 3 ...
Breaking Medicine News(10 mins):
(Date:9/18/2017)... ALLENTOWN , Pa. and KALAMAZOO, Mich. ... Allentown, Penn. , and OptiMed Specialty Pharmacy ... a business partnership to offer a strategic hub service ... PMD Healthcare,s highly sought-after personal spirometer, Spiro PD 2.0, ... A spirometer is a medical device used ...
(Date:9/12/2017)... YORK , Sept. 12, 2017   EcoVadis , the leading ... has published the first annual edition of its Global CSR Risk and ... companies evaluated by EcoVadis, based on Scorecard Ratings that analyzed nearly 800,000 ... ... Index ...
(Date:9/9/2017)... , Sept. 8, 2017 ... Mobile MRI Unit coming to Washington DC ... When: Tuesday, September 12 th – Monday, September 18 ... D.C. offering free MRI brain scans to the public.Where:  ... be parked at 501 K Street NW, Washington, D.C.What:BTF brings its nationwide ...
Breaking Medicine Technology: