Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria

Child Nephrol Urol. 1992;12(4):221-4.

Abstract

We report the case of a 5-year-old boy with mitochondrial cytopathy due to a partial deficiency of cytochrome c oxidase who had isolated proximal renal tubular acidosis and hypercalciuria. The patient developed hypotonia and blepharoptosis and exhibited growth retardation. Biochemical examination of muscle tissue revealed a partial deficiency of cytochrome c oxidase. He was treated with an alkali, hydrochlorothiazide, and indomethacin. After treatment, metabolic acidosis and hypercalciuria improved, and the patient had a catch-up growth phase. This case emphasizes the importance of performing renal tubular functional investigations and treatment in patients with mitochondrial cytopathy, even in the absence of multiple proximal tubular dysfunction.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Renal Tubular / complications*
  • Acidosis, Renal Tubular / drug therapy
  • Calcium / urine*
  • Child, Preschool
  • Cytochrome-c Oxidase Deficiency*
  • Humans
  • Hydrochlorothiazide / therapeutic use
  • Indomethacin / therapeutic use
  • Male
  • Mitochondria, Muscle / enzymology
  • Mitochondrial Myopathies / complications

Substances

  • Hydrochlorothiazide
  • Calcium
  • Indomethacin