Open AccessWolfram syndrome: Portuguese research
Author(s) -
Cristina Ferreras,
Vanessa Gorito,
J.A. Costa Branco De Oliveira Pedro,
Sofia Ferreira,
Carla Costa,
Rita Santos Silva,
Cecília Correia
Publication year - 2021
Publication title -
endokrynologia polska
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.413
H-Index - 27
eISSN - 2299-8306
pISSN - 0423-104X
DOI - 10.5603/ep.a2021.0038
Subject(s) - wolfram syndrome , diabetes insipidus , medicine , diabetes mellitus , pediatrics , atrophy , disease , endocrinology
Wolfram syndrome (WFS) is a neurological and endocrinological degenerative disorder, also known as DIDMOAD (Diabetes Insipidus, early-onset Diabetes Mellitus, progressive Optic Atrophy, and Deafness) syndrome. It is an autosomal recessive disorder, mostly involving the Wolfram syndrome 1 gene (WFS1). The phenotypic pleiomorphism, rarity, and molecular complexity complicate the follow-up of these patients.