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Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1

Wolfram syndrome 1 is a rare, autosomal recessive, neurodegenerative, progressive disorder. Insulin-dependent, non-autoimmune diabetes mellitus and bilateral progressive optic atrophy are both sensitive and specific criteria for clinical diagnosis. The leading cause of death is central respiratory f...

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Autores principales: Salzano, Giuseppina, Rigoli, Luciana, Valenzise, Mariella, Chimenz, Roberto, Passanisi, Stefano, Lombardo, Fortunato
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744633/
https://www.ncbi.nlm.nih.gov/pubmed/35010780
http://dx.doi.org/10.3390/ijerph19010520
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author Salzano, Giuseppina
Rigoli, Luciana
Valenzise, Mariella
Chimenz, Roberto
Passanisi, Stefano
Lombardo, Fortunato
author_facet Salzano, Giuseppina
Rigoli, Luciana
Valenzise, Mariella
Chimenz, Roberto
Passanisi, Stefano
Lombardo, Fortunato
author_sort Salzano, Giuseppina
collection PubMed
description Wolfram syndrome 1 is a rare, autosomal recessive, neurodegenerative, progressive disorder. Insulin-dependent, non-autoimmune diabetes mellitus and bilateral progressive optic atrophy are both sensitive and specific criteria for clinical diagnosis. The leading cause of death is central respiratory failure resulting from brainstem atrophy. We describe the clinical features of fourteen patients from seven different families followed in our Diabetes Center. The mean age at Wolfram syndrome 1 diagnosis was 12.4 years. Diabetes mellitus was the first clinical manifestation, in all patients. Sensorineural hearing impairment and central diabetes insipidus were present in 85.7% of patients. Other endocrine findings included hypogonadotropic hypogonadism (7.1%), hypergonadotropic hypogonadism (7.1%), and Hashimoto’s thyroiditis (21.4%). Neuropsychiatric disorders were detected in 35.7% of patients, and urogenital tract abnormalities were present in 21.4%. Finally, heart diseases were found in 14.2% of patients. Eight patients (57.1%) died at the mean age of 27.3 years. The most common cause of death was respiratory failure which occurred in six patients. The remaining two died due to end-stage renal failure and myocardial infarction. Our data are superimposable with those reported in the literature in terms of mean age of onset, the clinical course of the disease, and causes of death. The frequency of deafness and diabetes insipidus was higher in our patients. The incidence of urogenital diseases was lower although it led to the death of one patient. Long-term follow-up studies including large patient cohorts are necessary to establish potential genotype-phenotype correlation in order to personalize the most suitable clinical approach for each patient.
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spelling pubmed-87446332022-01-11 Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1 Salzano, Giuseppina Rigoli, Luciana Valenzise, Mariella Chimenz, Roberto Passanisi, Stefano Lombardo, Fortunato Int J Environ Res Public Health Article Wolfram syndrome 1 is a rare, autosomal recessive, neurodegenerative, progressive disorder. Insulin-dependent, non-autoimmune diabetes mellitus and bilateral progressive optic atrophy are both sensitive and specific criteria for clinical diagnosis. The leading cause of death is central respiratory failure resulting from brainstem atrophy. We describe the clinical features of fourteen patients from seven different families followed in our Diabetes Center. The mean age at Wolfram syndrome 1 diagnosis was 12.4 years. Diabetes mellitus was the first clinical manifestation, in all patients. Sensorineural hearing impairment and central diabetes insipidus were present in 85.7% of patients. Other endocrine findings included hypogonadotropic hypogonadism (7.1%), hypergonadotropic hypogonadism (7.1%), and Hashimoto’s thyroiditis (21.4%). Neuropsychiatric disorders were detected in 35.7% of patients, and urogenital tract abnormalities were present in 21.4%. Finally, heart diseases were found in 14.2% of patients. Eight patients (57.1%) died at the mean age of 27.3 years. The most common cause of death was respiratory failure which occurred in six patients. The remaining two died due to end-stage renal failure and myocardial infarction. Our data are superimposable with those reported in the literature in terms of mean age of onset, the clinical course of the disease, and causes of death. The frequency of deafness and diabetes insipidus was higher in our patients. The incidence of urogenital diseases was lower although it led to the death of one patient. Long-term follow-up studies including large patient cohorts are necessary to establish potential genotype-phenotype correlation in order to personalize the most suitable clinical approach for each patient. MDPI 2022-01-04 /pmc/articles/PMC8744633/ /pubmed/35010780 http://dx.doi.org/10.3390/ijerph19010520 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Salzano, Giuseppina
Rigoli, Luciana
Valenzise, Mariella
Chimenz, Roberto
Passanisi, Stefano
Lombardo, Fortunato
Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1
title Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1
title_full Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1
title_fullStr Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1
title_full_unstemmed Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1
title_short Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1
title_sort clinical peculiarities in a cohort of patients with wolfram syndrome 1
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8744633/
https://www.ncbi.nlm.nih.gov/pubmed/35010780
http://dx.doi.org/10.3390/ijerph19010520
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