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: H Matsutani, Y Mizusawa, M Shimoda, F Niimura, A Takeda, M Shimohira, Y Iwakawa
• Journal: Child nephrology and urology (Child Nephrol Urol) Vol. 12 Issue 4 Pg. 221-4 ( 1992) ISSN: 1012-6694 [Print] Switzerland
• PMID: 1335358 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hydrochlorothiazide
• Calcium
• Indomethacin

Topics

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