Cristina Ferreras, Vanessa Gorito, Jorge Pedro, Sofia Ferreira, Carla Costa, Rita Santos Silva, Cintia Castro Correia
Endokrynologia Polska 2021Wolfram 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. We aimed to describe the clinical characteristics and the follow-up of 11 patients with this disorder. We retrospectively analysed all WFS patients diagnosed between 1990 and 2020 in the Centro Hospitalar São João, a tertiary hospital in Northern Portugal. Eleven patients were included. Four patients had all 4 components of DIDMOAD. The presentation was diabetes mellitus (DM) in 9 patients, optic atrophy (OA) in another patient, and diabetes insipidus (DI) in another one. The median age of DM and OA diagnosis was 6 and 14 years, respectively. Nine patients had diabetes mellitus, and the other 2 patients had impaired glucose tolerance. All patients had OA. Four patients presented DI, all of them diagnosed in adolescence. Four patients had hearing impairment, 5 had urological abnormalities, 5 had neurological disorders, and 8 had psychiatry disorders. Eight patients had a broad spectrum of recessive mutations in WFS1. The information obtained in this study can facilitate further research in an attempt to improve prevention strategies for this devastating disease.
Cristina Ferreras, Vanessa Gorito, Jorge Pedro, Sofia Ferreira, Carla Costa, Rita Santos Silva, Cintia Castro Correia. Wolfram syndrome: Portuguese research. Endokrynologia Polska. 2021;72(4):353-356
PMID: 34010437
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