摘要
Liddle综合征是一种常染色体显性遗传病，常具有家族聚集性，由编码肾小管上皮细胞ENaC的基因SCNNIB或SCNN1G发生突变所导致，该突变引起顶膜上ENaC数量增加并处于持续激活状态，使远端肾单位对Na＋及水分的重吸收显著增加。临床特点为高血压、低钾血症，以及血浆肾素-血管紧张素-醛固酮水平降低。主要治疗方法为阿米洛利或氨苯喋啶配合低钠饮食。醛固酮受体拮抗剂螺内酯对该病无效。
Liddle syndrome is an autosomal dominant inherited disease with familial aggregation caused by mutations of ENaC （encoded by SCNN1 B or SCNN1 G） in renal tubule epithelial cells. These mutations cause an increase in the number and activity of ENaC in apical membrane, which upregulates reab-sorption of Na＋ as well as liquid in distal nephron. The disease is characterized by hypertension, hypopotassaemia, and low levels of plasma renin-angiotensin-aldosterone. Amiloride or triamterene,in combination with a low salt diet corrects these abnormalities while aldosterone receptor antagonist spironolactone is invalid.
出处
《国际内分泌代谢杂志》
2011年第5期346-348,共3页
International Journal of Endocrinology and Metabolism
