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本文报道4例遗传性远曲管性肾小管酸中毒,均为女性,起病年龄30天～2岁。具有高氯性酸中毒,低血钾,尿pH>6.5及骨骼脱钙特点。临床表现为营养不良、肌无力、脱水和骨病等。本病系常染色体显性遗传,本组均有明显的家族成员患病史及遗传史。关于碱剂用量近年报道生长发育儿童须5～14mEq/kg/日(按HCO_2~-计算),能促进正常生长发育及防止肾钙化、肾结石。还强调低钾血症可导致低钾性心肌病而造成严重后果和针对低钾进行治疗的重要性。
This article reports 4 cases of remote distal tubular acidosis, are female, onset age 30 days to 2 years. With high chloride acidosis, hypokalemia, urine pH> 6.5 and bone decalcification characteristics. Clinical manifestations of malnutrition, muscle weakness, dehydration and bone disease. The Department of autosomal dominant inheritance, this group have obvious family history and genetic history. In recent years, the amount of alkali agent reported growth and development of children to be 5 ~ 14mEq / kg / day (according to HCO_2 ~ - calculation), can promote normal growth and development and prevent renal calcification, kidney stones. It is also emphasized the importance of hypokalemia leading to hypokalemic cardiomyopathy with serious consequences and treatment for hypokalemia.