1981～1986年我科收治4例Ⅰ型原发性肾小管性酸中毒。男女各2例,年龄16月～66/(12)岁。家族史无特殊。临床均有发育迟缓、消瘦,多饮多尿、食欲减低,2例行走似鸭步,1例反复肢痛、便秘,1例双腿周期性乏力、多汗、呕吐。体检均见皮下脂肪薄、肋串珠,双下肢肌张力及膝反射减低。2例眼眶凹陷、方颅、鸡胸、肋外翻、肝脾轻肿大,1 From 1981 to 1986, 4 cases of type Ⅰ primary renal tubular acidosis were treated in our department. Two men and women each, aged from 16 months to 66 years (12 years). No special family history. Clinical development retardation, weight loss, polydipsia, polyhydration, loss of appetite, 2 walking duck-like step, 1 case of repeated limb pain, constipation, 1 case of periodic weakness legs, sweating, vomiting. Physical examination showed thin subcutaneous fat, rib beaded, lower extremity muscle tension and knee reflex reduction. 2 cases of orbital depression, square skull, chicken breast, rib valgus, liver and spleen light swelling, 1