Four-month-old infant with focal segmental glomerulosclerosis and mitochondrial DNA deletion

J Child Neurol. 2005 Jan;20(1):83-4. doi: 10.1177/08830738050200011304.

Abstract

Mitochondrial cytopathies are a group of heterogeneous disorders characterized by multisystem involvement. Renal involvement in mitochondrial cytopathies is usually manifested as tubular dysfunction owing to impaired energy metabolism; however, a few cases with glomerular changes have also been reported. Herein we report the case of a 4-month-old Turkish girl with a mitochondrial DNA deletion and focal segmental glomerulosclerosis.

Publication types

  • Case Reports

MeSH terms

  • DNA / analysis
  • DNA, Mitochondrial / genetics*
  • Female
  • Gene Deletion*
  • Glomerulosclerosis, Focal Segmental / genetics*
  • Humans
  • Infant
  • Turkey

Substances

  • DNA, Mitochondrial
  • DNA