Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision.
Genetic diabetes
Kearns–Sayre
Mitochondrial diabetes
Thiamine-responsive megaloblastic anemia
Wolfram
Journal
Current diabetes reports
ISSN: 1539-0829
Titre abrégé: Curr Diab Rep
Pays: United States
ID NLM: 101093791
Informations de publication
Date de publication:
09 2022
09 2022
Historique:
accepted:
18
05
2022
pubmed:
6
7
2022
medline:
10
8
2022
entrez:
5
7
2022
Statut:
ppublish
Résumé
This review aims to provide an update on the etiologies of diabetes that are due to genetic disorders and that co-occur with impaired hearing or vision and to compare them. The potential mechanisms, including novel treatments, will be detailed. Wolfram syndrome, Kearns-Sayre syndrome, thiamine-responsive megaloblastic anemia, and maternally inherited diabetes and deafness are genetic disorders characterized by diabetes, impaired hearing, and vision. They differ in mode of inheritance, age at presentation, and the involvement of other organs; they are often misdiagnosed as type 1 or type 2 diabetes. Suspicion of a genetic diabetes syndrome should be raised when pancreatic autoantibodies are negative, other organs are involved, and family history includes diabetes. Correct diagnosis of the various syndromes is important for tailoring the most advanced treatment, preventing disease progression, and enabling proper genetic counseling.
Identifiants
pubmed: 35789979
doi: 10.1007/s11892-022-01483-y
pii: 10.1007/s11892-022-01483-y
doi:
Substances chimiques
Thiamine
X66NSO3N35
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
423-432Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.