【摘要】 巴特综合征(BS)是一种罕见的肾小管疾病,表现为高醛固酮血症、低钾性代谢性碱中毒和多尿、低血容量、低血压、肌无力及生长发育迟缓等一系列实验室和临床特征。BS为常染色体隐性遗传。到目前为止,发现至少5个基因序列与BS有关,分别构成了五种类型的BS:BS 1型为15号染色体长臂(15q15~21.1)的SLC12A1基因突变;BS 2型为11号染色体长臂(11q21~25)的KCNJ1基因突变;BS 3型为1号染色体短臂(1p36)的C lCNKb基因突变;BS 4型为BSND基因突变;BS 5型为细胞外钙离子感受体(CaR)基因突变。不同分型的BS临床表现各异。到目前为止,BS不能治愈,治疗措施主要为纠正电解质失衡,如低钾血症和可能存在的低镁血症。更多还原

【Abstract】 Bartter syndrome,a disorder of the renal tubules in the kidneys,causes a higher than normal aldosterone level and low serum potassium levels which lead to metabolic alkalosis.Patients with this syndrome share a myriad of clinical symptoms and laboratory abnormalities.Bartter syndrome is inherited as an autosomal recessive trait.At present,correcting electrolyte disturbances,i.e.hypokalemia and possibly hypomagnesemia,was main therapy for Batter syndrome.更多还原