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Related Experiment Videos

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
PubMed
Summary

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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.

Related Experiment Videos

  • 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.