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Wolfram syndrome: Portuguese research
Affiliations- Department of Paediatrics, Centro Hospitalar São João, Porto, Portugal
- Faculty of Medicine, University of Porto, Porto, Portugal, Portugal
- Department of Endocrinology, Centro Hospitalar São João, Porto, Portugal
- Pediatric Endocrinology and Diabetology Unit, Department of Paediatrics, Centro Hospitalar São João, Porto, Portugal
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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.
Keywords
Wolfram syndrome; diabetes mellitus; diabetes insipidus; optic atrophy; deafness
About this articleTitle
Wolfram syndrome: Portuguese research
Journal
Issue
Article type
Original paper
Pages
353-356
Published online
2021-04-13
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1829
Article views/downloads
1256
DOI
10.5603/EP.a2021.0038
Pubmed
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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