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 Kade1, Sebastian Krzysztof Spaleniak2, Bogdan Brodacki3, Agnieszka Pollak4, Dariusz Moczulski2, Monika Ołdak4, Marek Saracyn5
Clin Diabetol 2020;9(6):475-478.

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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