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Clinicopathologic Features of Mitochondrial Nephropathy
Toshiyuki Imasawa1, Daishi Hirano2, Kandai Nozu3
1Department of Nephrology, National Hospital Organization Chiba-Higashi National Hospital, Chiba, Japan.
Kidney International Reports
|March 8, 2022
Summary
Mitochondrial nephropathy, linked to genetic mutations, often presents with proteinuria and hearing loss. Diagnosis is delayed, and many patients require renal replacement therapy, highlighting the poor prognosis.
Area of Science:
- Nephrology
- Genetics
- Mitochondrial Diseases
Background:
- Clinicopathologic characteristics of mitochondrial nephropathy (MD) were previously unknown.
- MD can manifest with proteinuria, decreased glomerular filtration rate, or Fanconi syndrome.
Purpose of the Study:
- To describe the clinicopathologic features and prognosis of mitochondrial nephropathy.
- To analyze a large cohort of patients with genetically confirmed MD causing kidney disease.
Main Methods:
- Retrospective analysis of patients with genetically confirmed MD and kidney manifestations.
- Nationwide survey of 757 nephrology sections in Japan, collecting data on 81 cases of mitochondrial nephropathy.
Main Results:
- Proteinuria was the most common renal manifestation; hearing loss was the most common comorbidity.
- A median diagnostic delay of 6.0 years was observed.
- Focal segmental glomerulosclerosis (FSGS) was the most common pathologic diagnosis.
- For the m.3243A>G mutation, 50.8% of patients initiated renal replacement therapy (RRT) within 11 years, and 25.4% died within 12 years.
- Median eGFR decline was 5.4 ml/min/1.73 m²/yr, particularly in FSGS cases with m.3243A>G.
Conclusions:
- This study provides the first large-scale description of mitochondrial nephropathy's clinicopathologic features and prognosis.
- Mitochondrial nephropathy has a significant impact on kidney function and survival, especially in cases with the m.3243A>G mutation.
Keywords:
clinicopathologic featurem.3243A>Gmitochondriamitochondrial nephropathynational surveyprognosisMore Related Videos
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