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Chronic kidney disease caused by maternally inherited diabetes and deafness: a case report
Kenta Tanaka1, Toshinori Ueno2, Maria Yoshida3
1Department of Nephrology, Hiroshima Prefectural Hospital, 1-5-54, Ujinakanda, Minami-ku, Hiroshima, 734-8530, Japan.
Abstract:
Maternally inherited diabetes and deafness (MIDD) is a mitochondrial genetic disorder with variable clinical presentations, which can delay its diagnosis. Herein, we report the case of a 57-year-old Japanese man with MIDD who developed chronic kidney disease. He developed proteinuria long before his diabetes and deafness; at the age of 36 years, a renal biopsy showed minor glomerular abnormality and electron microscopy showed mild mitochondrial degeneration in the distal tubular epithelial cells. Twenty years later, a second renal biopsy showed nephrosclerosis with interstitial fibrosis and arteriolar hyaline thickening, despite the absence of hypertension and relatively good glycemic control. Granular swollen epithelial cells were found in the medullary collecting duct epithelium. Electron microscopy showed accumulating mitochondria in podocytes and tubular cells, leading to the diagnosis of MIDD. A muscle biopsy also showed ragged-red fibers, despite the absence of muscle weakness. Mitochondrial DNA analysis revealed an m.3243A > G mutation, and taurine supplementation was initiated. Our findings suggest that mitochondrial dysfunction is mainly associated with progressive renal damage.
Insights
Maternally inherited diabetes and deafness (MIDD), a mitochondrial disorder, can cause progressive kidney disease. This case highlights mitochondrial dysfunction
Area of Science:
- Genetics
- Nephrology
- Mitochondrial Biology
Background:
- Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by variable clinical manifestations, often leading to diagnostic delays.
- MIDD is primarily caused by mutations in mitochondrial DNA, affecting various organs.
Observation:
- A 57-year-old Japanese man with MIDD presented with chronic kidney disease, including proteinuria that preceded diabetes and deafness.
- Renal biopsies revealed progressive changes such as minor glomerular abnormalities, interstitial fibrosis, and arteriolar hyaline thickening, alongside accumulating mitochondria in renal cells.
- Muscle biopsy showed ragged-red fibers, confirming mitochondrial involvement despite the absence of muscle weakness.
Findings:
- The patient was diagnosed with MIDD due to the m.3243A>G mitochondrial DNA mutation.
- Mitochondrial dysfunction was identified as the primary driver of progressive renal damage in this patient.
- Taurine supplementation was initiated as a potential therapeutic intervention.
Implications:
- This case underscores the importance of considering MIDD in patients with unexplained chronic kidney disease, even without typical diabetes or deafness symptoms.
- Early diagnosis and recognition of mitochondrial dysfunction are crucial for managing MIDD-related complications.
- Further research into mitochondrial dysfunction's role in renal pathology may lead to novel therapeutic strategies for kidney disease.
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