CKD Due to a Novel Mitochondrial DNA Mutation: A Case Report

Am J Kidney Dis. 2019 Feb;73(2):273-277. doi: 10.1053/j.ajkd.2018.06.032. Epub 2018 Oct 8.


In human kidney disease, mitochondrial ultrastructural damage has long been recognized. Although the extent to which such mitochondrial changes contribute to human kidney disease is uncertain, experimental studies clearly demonstrate that mitochondrial damage can instigate pathogenetic processes that drive ongoing kidney disease. Clinical credence for this experimentally based hypothesis is provided by the development of kidney disease in patients with primary mitochondrial disorders. In this regard, substantial interest surrounds the occurrence of kidney disease in primary mitochondrial cytopathies, a heterogeneous group of conditions in which mutations in mitochondrial DNA (mtDNA) or nuclear DNA impair the functionality of components of the mitochondrial respiratory chain. We describe a novel mtDNA mutation in a patient who developed chronic kidney disease. The patient exhibited mitochondrial abnormalities in both muscle and kidney, chronic tubulointerstitial changes, and recurrent episodes of rhabdomyolysis. We outline mechanisms that may underlie the occurrence of chronic kidney disease in the setting of this novel mtDNA mutation. We also underscore the need to consider in relevant kidney diseases the presence of an underlying mitochondrial cytopathy because the latter more commonly exists than is generally recognized.

Keywords: Mitochondrial cytopathy; case report; chronic kidney disease (CKD); cytochrome C oxidase (MTCO1); heteroplasmy; kidney biopsy; mitochondrial DNA (mtDNA); mitochondrial complex IV; mitochondrial respiratory chain; mutation; myopathy; rhabdomyolysis.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Academic Medical Centers
  • Adult
  • Biopsy, Needle
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Diagnosis, Differential
  • Follow-Up Studies
  • Humans
  • Immunohistochemistry
  • Kearns-Sayre Syndrome / genetics*
  • Kearns-Sayre Syndrome / pathology
  • Male
  • Mitochondrial Myopathies / genetics*
  • Mitochondrial Myopathies / pathology
  • Rare Diseases
  • Renal Insufficiency, Chronic / genetics*
  • Renal Insufficiency, Chronic / pathology*
  • Rhabdomyolysis / genetics*
  • Rhabdomyolysis / pathology
  • Risk Assessment


  • DNA, Mitochondrial

Supplementary concepts

  • Mitochondrial cytopathy