open access

Ahead of print
Original paper
Published online: 2021-04-13
Submitted: 2021-01-28
Accepted: 2021-03-23
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Wolfram syndrome: a Portuguese Research

Cristina Ferreras, Vanessa Gorito, Jorge Pedro, Sofia Ferreira, carla costa, rita santos silva, Cintia Castro Correia
DOI: 10.5603/EP.a2021.0038
·
Pubmed: 34010437

open access

Ahead of print
Original Paper
Published online: 2021-04-13
Submitted: 2021-01-28
Accepted: 2021-03-23

Abstract

Introdution: Wolfram syndrome (WFS) is a neurologic and endocrinologic 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 in the Wolfram syndrome 1 gene. 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 analyzed all WFS patients diagnosed between 1990 and 2020 in the Centro Hospitalar São João, a tertiary hospital in Northern Portugal. Results: Eleven patients were included. Four patients have all 4 components of DIDMOAD. The presentation was diabetes mellitus (DM) in nine 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 two patients had impaired glucose tolerance. All patients had OA. Four patients presented DI, all of them diagnosed in adolescence. Four patients had hearing impairment, five had urological abnormalities, and five had neurologic disorders and eight had psychiatry disorders. Eight patients had a broad spectrum of recessive mutations in WFS1. Conclusion: In conclusion, the information obtained in this study can facilitate further research in an attempt to improve prevention strategies for this devastating disease.

Abstract

Introdution: Wolfram syndrome (WFS) is a neurologic and endocrinologic 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 in the Wolfram syndrome 1 gene. 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 analyzed all WFS patients diagnosed between 1990 and 2020 in the Centro Hospitalar São João, a tertiary hospital in Northern Portugal. Results: Eleven patients were included. Four patients have all 4 components of DIDMOAD. The presentation was diabetes mellitus (DM) in nine 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 two patients had impaired glucose tolerance. All patients had OA. Four patients presented DI, all of them diagnosed in adolescence. Four patients had hearing impairment, five had urological abnormalities, and five had neurologic disorders and eight had psychiatry disorders. Eight patients had a broad spectrum of recessive mutations in WFS1. Conclusion: In conclusion, the information obtained in this study can facilitate further research in an attempt to improve prevention strategies for this devastating disease.

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Keywords

Wolfram syndrome. Diabetes mellitus. Diabetes insipidus. Optic Atrophy. Deafness.

About this article
Title

Wolfram syndrome: a Portuguese Research

Journal

Endokrynologia Polska

Issue

Ahead of print

Article type

Original paper

Published online

2021-04-13

DOI

10.5603/EP.a2021.0038

Pubmed

34010437

Keywords

Wolfram syndrome. Diabetes mellitus. Diabetes insipidus. Optic Atrophy. Deafness.

Authors

Cristina Ferreras
Vanessa Gorito
Jorge Pedro
Sofia Ferreira
carla costa
rita santos silva
Cintia Castro Correia

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