假性醛固酮减少症Ⅱ型的临床和发病机制研究现状

Clinical manifestation and pathogenesis of Pseudohypoaldosteronism Type 2

假性醛固酮减少症Ⅱ型(PHAⅡ)是一种极为罕见的常染色体显性遗传病。患者的主要临床特征包括高血钾、高血压、高血氯、代谢性酸中毒,同时肾小球滤过率正常。该病的发生是由于无赖氨酸激酶(WNK)1和WNK4基因的突变,导致肾小管多种离子转运蛋白功能异常,水钠潴留,钾离子分泌减少,这些蛋白功能异常可以用噻嗪类利尿剂纠正。

Pseudohypoaldosteronism Type 2 （PHA Ⅱ ） is a rare autosomal-dominant illness characterized by salt-dependent hypertension with hyperkalemia, slight hyper-chloremia, metabolic acidosis despite normal glnmerular filtration rate. The molecular defect of PI-IA Ⅱ was found to be mutations in WNK1 or WNK4 gene. These mutations could cause dysfunctions of the ion transporters in the distal nephron which result in salt retention and impaired potassium secretion. These abnormalities could be ameliorated by small doses of thiazide diuretics.