目的探讨原发肾小管性低钾碱中毒的临床特点。方法收集在天津市儿童医院住院治疗的原发肾小管性低钾碱中毒患儿8例,其中Bartter综合征(BS)、Gitelman综合征(GS)各4例。回顾性分析其临床表现、实验室检查、治疗方法及转归情况。结果 4例BS均婴幼儿期起病,临床表现为间断呕吐、腹泻、脱水、生长发育迟缓。4例GS发病年龄为10～15岁,临床表现为肢体无力、四肢麻木及间断手足搐搦。8例患儿血压均正常。实验室检查均表现为低血钾、代谢性碱中毒、尿钾、尿氯排出增加;4例BS患儿血浆肾素、血管紧张素、醛固酮明显升高;4例GS患儿血管紧张素均升高,血浆肾素升高3例、醛固酮明显升高2例;BS患儿尿钙肌酐比>0.2,GS患儿伴低血镁、尿钙肌酐比<0.2。2例BS患儿B超示双肾回声均匀增强,其中1例左肾盂扩张。单纯补钾或联合补镁、吲哚美辛、螺内酯和卡托普利后症状缓解。结论原发肾小管性低钾碱中毒主要表现为低血钾、代谢性碱中毒、血压正常。检查其血镁、尿钾、尿氯、尿钙肌酐比和血浆肾素、血管紧张素、醛固酮水平可帮助诊断。BS和GS的发病机制、临床表现、治疗及预后均有不同。 Objective To investigate the clinical features of primary renal tubular hypokalemia. Methods Eight children with primary renal tubular hypokalemia who were hospitalized in Tianjin Children’s Hospital were enrolled. Among them, Bartter’s syndrome (BS) and Gitelman’s syndrome (GS) were collected in 4 cases. Retrospective analysis of its clinical manifestations, laboratory tests, treatment and outcome of the situation. Results All 4 cases of BS were infantile onset, the clinical manifestations of intermittent vomiting, diarrhea, dehydration, growth retardation. 4 cases of GS onset age of 10 to 15 years old, clinical manifestations of limb weakness, limb numbness and intermittent tetany. 8 cases of children with normal blood pressure. Laboratory tests showed hypokalemia, metabolic alkalosis, urinary potassium, increased urinary chloride excretion; 4 cases of children with plasma renin, angiotensin, aldosterone was significantly increased; 4 cases of children with angiotensin Elevated plasma renin in 3 cases, aldosterone increased significantly in 2 cases; BS children with urinary calcium creatinine ratio> 0.2, GS children with hypomagnesemia, urinary calcium creatinine ratio <0.2.2 Double renal echo showed uniform enhancement, including 1 case of left renal pelvis dilatation. Melanosis alone or combined with magnesium, indomethacin, spironolactone and captopril after the remission. Conclusion Primary renal tubular hypokalemia mainly manifested as hypokalemia, metabolic alkalosis, normal blood pressure. Check the blood magnesium, urinary potassium, urinary chlorine, urinary calcium creatinine and plasma renin, angiotensin, aldosterone levels can help diagnose. BS and GS pathogenesis, clinical manifestations, treatment and prognosis are different.