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Focal segmental glomerulosclerosis associated with mitochondrial cytopathy
L M Doleris1, G S Hill, P Chedin
1Department of Internal Medicine and Nephrology, Hôpital A. Paré, Boulogne Billancourt, France. luc.moulonguet@apr.ap-hop-paris.fr
Kidney International
|October 24, 2000
Summary
Focal segmental glomerulosclerosis (FSGS) can be an early kidney manifestation of mitochondrial cytopathies (MCs). Researchers found a specific mitochondrial DNA mutation in patients, suggesting MCs should be considered in FSGS cases.
Area of Science:
- Nephrology
- Genetics
- Mitochondrial Diseases
Background:
- Focal segmental glomerulosclerosis (FSGS) is a nonspecific kidney lesion with varied causes.
- Mitochondrial cytopathies (MCs) involve cellular dysfunction due to abnormal mitochondrial DNA, impacting tissues reliant on oxidative metabolism.
- Renal manifestations of MCs primarily involve tubular dysfunction, with glomerular diseases being less commonly reported.
Observation:
- Four adult patients with FSGS and suspected MCs were studied.
- Renal biopsies underwent routine histology and mitochondrial DNA analysis.
- Clinical history and manifestations suggested MCs in patients with FSGS.
Findings:
- An A3243G transition in mitochondrial DNA tRNA(leu(UUR)) was identified in both lymphocytes and kidney tissue.
- FSGS lesions were accompanied by hyaline lesions, indicative of myocyte necrosis in afferent arterioles and small arteries.
- The findings link FSGS to mitochondrial DNA defects.
Implications:
- FSGS can be an early renal sign of MCs, potentially preceding other symptoms by years.
- Arteriolar lesions may cause glomerular hypertension and hyperperfusion, leading to secondary FSGS.
- MCs should be considered in idiopathic FSGS, especially with a family history of diabetes, neuromuscular disorders, or deafness.