1例儿童Gitelman综合征并矮小症的临床分析

Clinical Analysis of a Child with Gitelman Syndrome and Short Stature

Gitelman综合征(Gitelman syndrome, GS)又称家族性低钾低镁血症,是常染色体隐性遗传性肾小管失盐性疾病,临床表现为低血钾症、低氯性代谢性碱中毒、低镁血症、低尿钙、肾素–血管紧张素–醛固酮系统(Renin-angiotensin-aldosterone system, RAAS)激活,但血压正常或偏低。现将延安大学附属医院收治的1例以顽固低血钾症为临床表现的Gitelman综合征患儿的临床资料及诊疗过程,结合相关文献学习,做如下报道,旨在提高临床医师对该疾病的认识。

Gitelman syndrome (Gitelman syndrome, GS), also known as familial hypokalemia and hypomagnesemia, is an autosomal recessive hereditary renal tubular salt loss disease with clinical manifestations of hypokalemia and hypochlorinated metabolic alkali Poisoning, hypomagnesemia, low urine calcium, renin-angiotensin-aldosterone system (Renin-angiotensin-aldosterone system, RAAS) is activated, but blood pressure is normal or low. The clinical data, the diagnosis and treatment process of a child with Gitelman syndrome with stubborn hypokalemia as clinical manifestations admitted to the Affiliated Hospital of Yan’an University, combined with relevant literature studies, are reported as follows, aiming to improve clinicians’ understanding of the disease.