Homoplasmy of the Mitochondrial DNA Mutation m.616T>C Leads to Mitochondrial Tubulointerstitial Kidney Disease and Encephalopathia

Nephron. 2020;144(3):156-160. doi: 10.1159/000504412. Epub 2019 Nov 13.


Autosomal-dominant tubulointerstitial kidney disease -(ADTKD) describes tubulointerstitial kidney disease with autosomal-dominant inheritance. In 2017, the term mitochondrial tubulointerstitial kidney disease (MITKD) was introduced for tubulointerstitial kidney disease caused by mitochondrial DNA (mtDNA) mutations. To date, there are few mutations described in literature causing MITKD, one of them is m.616T>C. A 5-year-old girl presented with chronic renal insufficiency and epilepsia. At the age of 3 years, status epileptic occurred and evolved into epilepsia partialis continua. At the age of 5 years, chronic renal failure (CKD II-III) was diagnosed due to tubulointerstitial kidney disease. Urine analysis showed elevated fractional excretions of sodium and chloride. Kidneys were enlarged and hyperechogenic. Blood pressure was elevated. The family history was unremarkable for renal and/or neurological disorders. Genetic testing was performed and revealed homoplasmy of the substitution m.616T>C in our patient's mtDNA. This mutation has been shown to cause chronic tubulointerstitial kidney disease leading to end-stage renal disease (ESRD) and epilepsia formerly. MITKD is a rare mitochondrial disease leading to ESRD and should be suggested in patients with epilepsia and renal insufficiency.

Keywords: Mitochondrial tubulointerstitial kidney disease; Autosomal-dominant tubulointerstitial kidney disease; Encephalopathia; Epilepsia; Mitochondrial DNA.

Publication types

  • Case Reports

MeSH terms

  • Brain Diseases / etiology*
  • Child, Preschool
  • DNA, Mitochondrial / genetics*
  • Female
  • Heteroplasmy*
  • Humans
  • Kidney Failure, Chronic / etiology*
  • Kidney Tubules / pathology*
  • Mutation*


  • DNA, Mitochondrial