Liddle综合征研究进展

Recent progress in studies on Liddle’s syndrome

摘要:

Liddle综合征是一种常染色体显性遗传的单基因高血压病，其临床特征是早发的高血压，低血钾，低肾素，低醛固酮血症，对上皮钠离子通道（ENaC）抑制剂敏感，而对醛固酮抑制剂不敏感。虽然在该综合征的诊断和治疗方面已取得很大进展，但仍有部分患者被误诊以致早年发生心肾功能不全等靶器官损害、脑卒中甚至猝死。近年来，由于分子生物学和分子遗传学的发展，对Liddle综合征发病机制的研究不断深入。该综合征的遗传基础为编码ENaC的基因发生突变引起上皮钠通道过度激活导致肾脏远曲小管对钠水重吸收增强所致，一旦诊断明确，单服阿米洛利即可取得良好的疗效。本文将对Liddle综合征的研究现状作一综述。

Abstract:

Liddle’s syndrome is a monogenic disease inherited in an autosomal dominant manner, and characterized by severe hypertension associated with low plasma renin, low blood potassium and hypokalemia. It is sensitive to the inhibitors of epithelial sodium channel (ENaC), but not to those of aldosterone. Though great advances have been made in its diagnosis and treatment, there are some patients being misdiagnosed and experiencing early cardiac and renal insufficiency or other target organ damage, stroke and even sudden death. In recent years, with the development of molecular biology and molecular genetics, some achievements are made in its pathogenic mechanism. The syndrome is due to a genetic mutation of ENaC, which causing over-activation of ENaC and increased sodium and water resorption in distal convoluted tubules. Once the diagnosis of Liddle’s syndrome is made, amiloride alone is adequate to control the hypertension. In this article, we reviewed the current researches on the syndrome.