title: Partial deficiency of cytochrome c oxidase with isolated proximal renal tubular acidosis and hypercalciuria.
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.
authors.affiliation: Department of Pediatrics, Tokyo Medical and Dental University, Faculty of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Matsutani
authors.forename: Y
authors.initials: Y
authors.lastname: Mizusawa
authors.forename: M
authors.initials: M
authors.lastname: Shimoda
authors.forename: F
authors.initials: F
authors.lastname: Niimura
authors.forename: A
authors.initials: A
authors.lastname: Takeda
authors.forename: M
authors.initials: M
authors.lastname: Shimohira
authors.forename: Y
authors.initials: Y
authors.lastname: Iwakawa
mesh_terms: D000141:Acidosis, Renal Tubular / Q000150:complications* / Q000188:drug therapy; D002118:Calcium / Q000652:urine*; D002675:Child, Preschool; D030401:Cytochrome-c Oxidase Deficiency; D006801:Humans; D006852:Hydrochlorothiazide / Q000627:therapeutic use; D007213:Indomethacin / Q000627:therapeutic use; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology; D017240:Mitochondrial Myopathies / Q000150:complications
chemical_list: D006852:Hydrochlorothiazide; D002118:Calcium; D007213:Indomethacin