Matsutani H, Mizusawa Y, Shimoda M, Niimura F, Takeda A, Shimohira M, Iwakawa Y
Department of Pediatrics, Tokyo Medical and Dental University, Faculty of Medicine, Japan.
Child Nephrol Urol. 1992;12(4):221-4.
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.
我们报告了一例5岁男孩，因细胞色素c氧化酶部分缺乏导致线粒体细胞病，该患儿仅有近端肾小管酸中毒和高钙尿症。患儿出现肌张力减退和上睑下垂，并伴有生长发育迟缓。肌肉组织的生化检查显示细胞色素c氧化酶部分缺乏。他接受了碱剂、氢氯噻嗪和吲哚美辛治疗。治疗后，代谢性酸中毒和高钙尿症得到改善，患儿进入追赶生长阶段。该病例强调了对线粒体细胞病患者进行肾小管功能检查和治疗的重要性，即使不存在多种近端肾小管功能障碍。
