Bartter综合征和Liddle综合征

Bartter syndrome and Liddle syndrome

Bartter综合征和Liddle综合征均是以低血钾性碱中毒为临床特征的遗传性失钾性肾小管病。Bartter综合征主要为常染色体隐性遗传，由5种位于髓襻升支粗段或远端。肾小管上皮细胞上的离子通道基因突变所引起，血浆肾素和醛崮酮增高而血压正常，主要治疗是纠正低钾血症，防治并发症。Liddle综合征是常染色体显性遗传，由编码肾小管上皮细胞钠通道的基因突变引起，血压增高而血浆肾素和醛固酮减低，主要治疗是限钠补钾，氨苯蝶啶或阿米洛利降血压。

Bartter syndrome and Liddle syndrome are genetic renal tubular disorders characterized by hypokalemic alkalosis. Bartter syndrome is mainly an autosomal recessive disease, caused by mutations of one of the five ion channel genes in renal tubular epithelial cells. Plasma renin and aldosterone levels are increased but blood pressure is normal,the main treatment is to correct hypokalemia,to prevent and cure complications. Liddle syndrome is an autosomal dominant disease, caused by epithelial Na-channel gene mutation, and presented with increased blood pressure but decreased plasma levels of renin and aldosterone. Patients with Liddle syndrome should limit the intake of sodium and supplement potassium,take Triamterene or Amiloride to control hypertension.