Diabetes, deafness and renal disease
Iolanda Godinho1, Joana Gameiro1, Sofia Jorge1
1Division of Nephrology and Renal Transplantation, Department of Medicine, Centro Hospitalar Lisboa Norte, EPE, Lisboa, Portugal.
Clinical Kidney Journal
|August 31, 2017
Summary
Mitochondrial disease can cause kidney problems like focal segmental glomerulosclerosis (FSGS), diabetes, and hearing loss. Early diagnosis of this rare condition prevents unnecessary treatments.
Area of Science:
- Nephrology
- Genetics
- Endocrinology
Background:
- Deafness, kidney disease, and diabetes are uncommon co-occurring conditions, especially with a shared family history.
- A 47-year-old woman presented with proteinuria, sensorineural hearing loss, diabetes, and maculopathy, alongside a maternal family history of similar conditions.
Purpose of the Study:
- To highlight the association between focal segmental glomerulosclerosis (FSGS) and mitochondrial disease.
- To emphasize the importance of diagnosing maternally inherited diabetes and deafness (MIDD) in patients with unexplained FSGS.
Main Methods:
- Clinical presentation review of a patient with proteinuria, hearing loss, and diabetes.
- Renal biopsy to identify FSGS.
- Genetic testing for mitochondrial DNA mutations, specifically m.3243A>G.
Main Results:
- Renal biopsy confirmed focal segmental glomerulosclerosis (FSGS).
- Genetic analysis identified the m.3243A>G mitochondrial mutation.
- Diagnosis of maternally inherited diabetes and deafness (MIDD) was established.
Conclusions:
- Maternally inherited diabetes and deafness (MIDD) is a potential cause of FSGS, a link not widely recognized by nephrologists.
- Timely diagnosis of MIDD is crucial to guide appropriate patient management and avoid potentially harmful immunosuppressive therapies.
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