Maternally inherited diabetes and deafness with a variable presentation across three generations within a pedigree, South Africa

African Journal of Laboratory Medicine

 
 
Field Value
 
Title Maternally inherited diabetes and deafness with a variable presentation across three generations within a pedigree, South Africa
 
Creator Makgopa, Herbert Kemp, Tanja Meldau, Surita Honey, Engela M. Chale-Matsau, Bettina
 
Subject Endocrinology; Diabetes; Mitochondrial disease diabetes; mitochondrial DNA; maternally inherited diabetes and deafness; heteroplasmy; hearing loss.
Description Introduction: Maternally inherited diabetes and deafness (MIDD) is caused by the m.3243AG pathogenic variant in maternally inherited mitochondrial DNA. Diabetes is prevalent in our setting; however, MIDD is rarely diagnosed. This study, undertaken in Pretoria, South Africa, highlights the variable presentation of MIDD in different patients within the same family.Case presentation: A 45-year-old man (proband) with hearing impairment was referred to the endocrine unit in July 2015 due to poor glycaemic control (HbA1c = 13%). His clinical and biochemical features were in keeping with MIDD. A genetic study of accessible maternal relatives was pursued. His mother had difficulty hearing and reportedly died from an unspecified cardiovascular cause. Two sisters with diabetes and deafness died of cardiac-related conditions. One nephew had diabetes (HbA1c = 7.7%), hearing loss and tested positive for m.3243AG. A third sister tested positive for m3243AG, but aside from bilateral mild hearing loss in higher frequencies, showed no other signs of target organ damage. Her daughter developed end-stage kidney failure necessitating a transplant, while her son had no biochemical abnormalities and was negative for m.3243AG.Management and outcome: A multidisciplinary team managed and screened for complications of the patient and his maternal relatives. Proband died prior to genetic testing.Conclusion: Most MIDD patients initially present with symptoms of diabetes only, and it is probable that many cases remain undiagnosed. A high index of suspicion is necessary when encountering a family history of both diabetes and impaired hearing, and screening should be offered to the patient’s maternal relatives.What the study adds: This study demonstrates the importance of proper assessment when evaluating a patient with diabetes and a family history of hearing loss.
 
Publisher AOSIS
 
Contributor No funding was sourced for the study
Date 2024-05-29
 
Type info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion — Historical clinical data
Format text/html application/epub+zip text/xml application/pdf
Identifier 10.4102/ajlm.v13i1.2384
 
Source African Journal of Laboratory Medicine; Vol 13, No 1 (2024); 5 pages 2225-2010 2225-2002
 
Language eng
 
Relation
The following web links (URLs) may trigger a file download or direct you to an alternative webpage to gain access to a publication file format of the published article:

https://ajlmonline.org/index.php/ajlm/article/view/2384/2896 https://ajlmonline.org/index.php/ajlm/article/view/2384/2897 https://ajlmonline.org/index.php/ajlm/article/view/2384/2898 https://ajlmonline.org/index.php/ajlm/article/view/2384/2899
 
Coverage — — adults
Rights Copyright (c) 2024 Herbert Makgopa, Tanja Kemp, Surita Meldau, Engela M. Honey, Bettina Chale-Matsau https://creativecommons.org/licenses/by/4.0
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