open access

Vol 72, No 4 (2021)
Original paper
Submitted: 2021-01-28
Accepted: 2021-03-23
Published online: 2021-04-13
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Wolfram syndrome: Portuguese research

Cristina Ferreras12, Vanessa Gorito12, Jorge Pedro3, Sofia Ferreira42, Carla Costa42, Rita Santos Silva42, Cintia Castro Correia42
·
Pubmed: 34010437
·
Endokrynol Pol 2021;72(4):353-356.
Affiliations
  1. Department of Paediatrics, Centro Hospitalar São João, Porto, Portugal
  2. Faculty of Medicine, University of Porto, Porto, Portugal, Portugal
  3. Department of Endocrinology, Centro Hospitalar São João, Porto, Portugal
  4. Pediatric Endocrinology and Diabetology Unit, Department of Paediatrics, Centro Hospitalar São João, Porto, Portugal

open access

Vol 72, No 4 (2021)
Original Paper
Submitted: 2021-01-28
Accepted: 2021-03-23
Published online: 2021-04-13

Abstract

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 São João, 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.

Abstract

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 São João, 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.

Get Citation

Keywords

Wolfram syndrome; diabetes mellitus; diabetes insipidus; optic atrophy; deafness

About this article
Title

Wolfram syndrome: Portuguese research

Journal

Endokrynologia Polska

Issue

Vol 72, No 4 (2021)

Article type

Original paper

Pages

353-356

Published online

2021-04-13

Page views

2220

Article views/downloads

1619

DOI

10.5603/EP.a2021.0038

Pubmed

34010437

Bibliographic record

Endokrynol Pol 2021;72(4):353-356.

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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