Wolfram syndrome: Portuguese research

• Type: Article in International Scientific Journal
• Date: 2021

Authors

Ferreras, C (Author) Other; Gorito, V (Author) Other; Pedro, J (Author) Other; Ferreira, S (Author) Other; Costa, C (Author) FMUP; Silva, RS (Author) Other; C Correia (Author) FMUP

Journal

The Journal is awaiting validation by the Administrative Services.

Title: ENDOKRYNOLOGIA POLSKA

Vol. 72

Pages: 353-356

ISSN: 0423-104X

Publisher: Via Medica

Indexing

ISI Web of Knowledge - 0 Citations

Scopus - 0 Citations

Other information

Authenticus ID: P-00V-AHF

DOI: 10.5603/ep.a2021.0038

Abstract (EN): Introduction: 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. Material and methods: 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 Sao Joao, a tertiary hospital in Northern Portugal. Results: 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. Conclusion: The information obtained in this study can facilitate further research in an attempt to improve prevention strategies for this devastating disease.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4