Williams Scott S
UT Southwestern Medical Center at Dallas, Texas 75390-9063, USA.
Curr Opin Pediatr. 2007 Apr;19(2):192-8. doi: 10.1097/MOP.0b013e32801e217c.
Mendelian forms of hypertension are rare genetic disorders that cause severe hypertension. This review will explore the recently identified molecular mechanisms and pathogenesis of genetic disorders that cause hypertension in children.
Hypertension is now believed to be a polygenic disorder resulting from the interaction of multiple genes and the environment. A few forms of severe hypertension have been linked to single genes. The genes responsible for these disorders have all been cloned and all participate in pathways involved in heightened renal sodium reabsorption. The increased sodium reabsorption arises in the distal nephron and leads to volume expansion and hypertension.
Investigating forms of monogenic hypertension has advanced the understanding of sodium transport and volume control by the kidney. Future studies will identify novel genes, pathways and treatment targets important in the fight against primary hypertension.
孟德尔式高血压是导致严重高血压的罕见遗传疾病。本综述将探讨最近发现的导致儿童高血压的遗传疾病的分子机制和发病机制。
目前认为高血压是一种由多个基因与环境相互作用导致的多基因疾病。少数几种严重高血压形式与单基因有关。导致这些疾病的基因均已被克隆,且都参与了肾钠重吸收增加的相关途径。远端肾单位钠重吸收增加导致血容量扩张和高血压。
对单基因高血压形式的研究推进了对肾脏钠转运和容量控制的理解。未来的研究将确定对抗原发性高血压中重要的新基因、途径和治疗靶点。