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.
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
|Contact: Arantxa Mena|
IDIBELL-Bellvitge Biomedical Research Institute