open access

Vol 9, No 6 (2020)
Case report
Published online: 2020-11-18
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Maternally inherited diabetes and deafness (MIDD) syndrome with m.3243A > G mutation associated with renal failure — a case report

Grzegorz Kade, Sebastian Krzysztof Spaleniak, Bogdan Brodacki, Agnieszka Pollak, Dariusz Moczulski, Monika Ołdak, Marek Saracyn
DOI: 10.5603/DK.2020.0058
·
Clinical Diabetology 2020;9(6):475-478.

open access

Vol 9, No 6 (2020)
CASE REPORT
Published online: 2020-11-18

Abstract

Maternally-inherited diabetes with deafness (MIDD) is a rare form of monogenic diabetes that results, in most cases, from an A-to-G transition at position 3243 of mitochondrial DNA (m.3243A>G). The clinical presentation of m.3243A>G mutation is variable, ranging from mild to severe phenotypes. Diabetes is often accompanied by sensorineural deafness, cardiomyopathy, neuromuscular, psychiatric disorders, macular dystrophy and renal failure (kidney manifestations in adults presenting with this mutation remain poorly defined).
The study presents a case of a 40-years-old woman with a history of bilateral sensorineural deafness, renal failure and diabetes that was diagnosed due to increasing muscle weakness during exercise. MIDD was diagnosed based on the clinical picture and the results of laboratory studies including genetic testing. As far as we know, glomerulopathy with incomplete distal renal tubular acidosis has never been described before as a cause of renal failure in MIDD patients.

Abstract

Maternally-inherited diabetes with deafness (MIDD) is a rare form of monogenic diabetes that results, in most cases, from an A-to-G transition at position 3243 of mitochondrial DNA (m.3243A>G). The clinical presentation of m.3243A>G mutation is variable, ranging from mild to severe phenotypes. Diabetes is often accompanied by sensorineural deafness, cardiomyopathy, neuromuscular, psychiatric disorders, macular dystrophy and renal failure (kidney manifestations in adults presenting with this mutation remain poorly defined).
The study presents a case of a 40-years-old woman with a history of bilateral sensorineural deafness, renal failure and diabetes that was diagnosed due to increasing muscle weakness during exercise. MIDD was diagnosed based on the clinical picture and the results of laboratory studies including genetic testing. As far as we know, glomerulopathy with incomplete distal renal tubular acidosis has never been described before as a cause of renal failure in MIDD patients.

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Keywords

mitochondrial diabetes, sensorineural deafness, m.3243A> G mutation, renal failure, incomplete distal renal tubular acidosis

About this article
Title

Maternally inherited diabetes and deafness (MIDD) syndrome with m.3243A>G mutation associated with renal failure — a case report

Journal

Clinical Diabetology

Issue

Vol 9, No 6 (2020)

Article type

Case report

Pages

475-478

Published online

2020-11-18

DOI

10.5603/DK.2020.0058

Bibliographic record

Clinical Diabetology 2020;9(6):475-478.

Keywords

mitochondrial diabetes
sensorineural deafness
m.3243A>G mutation
renal failure
incomplete distal renal tubular acidosis

Authors

Grzegorz Kade
Sebastian Krzysztof Spaleniak
Bogdan Brodacki
Agnieszka Pollak
Dariusz Moczulski
Monika Ołdak
Marek Saracyn

References (15)
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