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)... ... 2017 , ... Lori R. Somekh, founder of the Law Office of ... elder law and special needs planning attorneys. “Membership in ElderCounsel helps our office remain ... to network with elder law attorneys nationwide,” said Somekh. , ElderCounsel ...
(Date:10/13/2017)... ... October 13, 2017 , ... Many families have long-term ... long-term care insurance companies have a waiver for care if the client has a ... when the family pays for care, is often waived, so the benefits from their ...
(Date:10/13/2017)... ... ... Ellevate Network, the leading network for professional women, brought together some of ... their inaugural Summit in New York City in June. The event was livestreamed with ... 3 million. To watch the Mobilize Women video, click here . , ...
(Date:10/13/2017)... ... October 13, 2017 , ... Yisrayl Hawkins, Pastor and Overseer at The ... the most popular and least understood books in the Holy Scriptures, Revelation. The Book ... have baffled scholars for centuries. Many have tossed it off as mere rubbish, but ...
(Date:10/13/2017)... ... October 13, 2017 , ... Coveros, ... Development, has been awarded a contract by the Center for Medicare and Medicaid ... to accelerate the enterprise use of Agile methodologies in a consistent and high ...
Breaking Medicine News(10 mins):
(Date:10/4/2017)... 2017  South Korean-based healthcare product Development Company I.M. ... on Kickstarter. The device will educate the user about ... better efficiency compared to the dated and pricey CPR ... efficacy of the compression for a more informed CPR ... to raise $5,000. ...
(Date:10/2/2017)... Mich. , Oct. 2, 2017 Diplomat ... 8th Day Software and Consulting, LLC , and ... 8th Day Software, based in Tennessee ... LLC. 8th Day expands EnvoyHealth,s service offerings for health ... development. "In an ...
(Date:10/2/2017)... 2017 Halo Labs announces the European launch of their ... HORIZON at MIBio 2017 in Cambridge, U.K ... matter in biopharmaceutical samples with unprecedented speed and sensitivity while using ... Backgrounded Membrane Imaging. ... subvisible particle analysis system ...
Breaking Medicine Technology: