肾小管性酸中毒(Renal Tubular Acidosis,RTA)是一少见的疾病,自1936年Lightwood报告以来,国内婴幼儿病例报告不多,特别是家族性RTA的报告更少。我们曾收治2例,现报告如下。例1 男,1岁11月,因腹泻伴呕吐3天,气促1天于1985年1月7日入院。患孩排黄色稀便3天,每天3～6次,偶有呕吐,口渴喜饮,入院前1天突然气促。1984年2月曾因气促住院,当时诊断“肺炎、重度酸中毒”治疗5天出院。父母为姨表近亲结 Renal Tubular Acidosis (RTA) is a rare disease. Since the Lightwood Report was published in 1936, there are not many reports of infants and young children in the country, especially reports of familial RTA. We have treated 2 cases, are as follows. Example 1 male, 1 year old in November, due to diarrhea with vomiting for 3 days, 1 day shortness of breath on January 7, 1985 admission. Patient row of yellow loose stool 3 days, 3 to 6 times a day, occasionally vomiting, thirst hi, one day before admission, sudden shortness of breath. In 1984 February due to shortness of breath hospitalized, then diagnosed “pneumonia, severe acidosis” treatment 5 days discharged. Parents parents close relatives knot