CAJ | 학술논문

原发性醛固酮增多症是继发性高血压最常见的原因,主要可分为家族性和散发性.已知家族性醛固酮增多症Ⅰ型与CYP11B1和CYP11B2基因的融合有关,不同的融合位点有不同的临床表现.家族性醛固酮增多症Ⅱ型的致病基因定位于7p22,G蛋白耦联的雌激素受体基因值得关注.家族性醛固酮增多症Ⅲ型和散发性原发性醛固酮增多症均与KNCJ5基因突变相关,分别为种系突变及体系突变,但可能并非唯一致病机制.动物实验中,弱整流型钾通道Task1和Task3的敲除制造了近年较成功的高醛固酮血症小鼠模型.
원발성철고동증다증시계발성고혈압최상견적원인,주요가분위가족성화산발성.이지가족성철고동증다증Ⅰ형여CYP11B1화CYP11B2기인적융합유관,불동적융합위점유불동적림상표현.가족성철고동증다증Ⅱ형적치병기인정위우7p22,G단백우련적자격소수체기인치득관주.가족성철고동증다증Ⅲ형화산발성원발성철고동증다증균여KNCJ5기인돌변상관,분별위충계돌변급체계돌변,단가능병비유일치병궤제.동물실험중,약정류형갑통도Task1화Task3적고제제조료근년교성공적고철고동혈증소서모형.
Primary aldosteronism is the most common reason of secondary hypertension,which can be divided into hereditary and sporadic.Gene fusion of CYP11B1 and CYP11B2 is the pathogenesis of familial hyperaldosteronism type Ⅰ,different fusion positions have different clinical manifestations.7p22 is the suspicious mutate gene position of familial hyperaldosteronism type Ⅱ,to which G protein coupled estrogen receptor gene should be given more attention.KNCJ5 gene mutation have been found related with familial hyperaldosteronism type Ⅲ and sporadic primary aldosteronism,which is germ line mutation and system mutation respectively,but it is not the only pathogenic mechanism.In animal experiments,knockout the weak rectifier type potassium channel Taskl and Task3 gene in mice made more successful hyperaldosteronism model in recent years.