Renal Tubular Mitochondrial Abnormalities in Complex II/III Respiratory Chain Deficiency

Fetal Pediatr Pathol. 2017 Jun;36(3):263-264. doi: 10.1080/15513815.2017.1313916. Epub 2017 Apr 28.

Abstract

Defects in the respiratory chain may present with a wide spectrum of clinical signs and symptoms. In this "Images in Pathology" discussion we correlate the clinical, histologic, and ultrastructural findings in a 12-year-old male with a complex II/III respiratory chain deficiency and kidney dysfunction.

Keywords: Mitochondria; electron microscopy; fanconi syndrome; renal tubulopathy; respiratory chain; ultrastructure.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Electron Transport Complex II / deficiency*
  • Electron Transport Complex III / deficiency*
  • Humans
  • Kidney Tubules, Proximal / abnormalities*
  • Kidney Tubules, Proximal / metabolism
  • Kidney Tubules, Proximal / pathology
  • Male
  • Mitochondria / metabolism
  • Mitochondria / pathology
  • Mitochondrial Diseases / metabolism*
  • Mitochondrial Diseases / pathology*
  • Reactive Oxygen Species / metabolism

Substances

  • Reactive Oxygen Species
  • Electron Transport Complex II
  • Electron Transport Complex III