Molecular aspects of the altered Angiotensin II signaling in Gitelman?s syndrome

[摘要] Gitelman’s Syndrome (GS) is a rare inherited tubulopathy characterized by hypokalemia, hypomagnesaemia, and metabolic alkalosis due toinactivating mutations of the distal convoluted tubule sodium chloride cotransporter. This entails reduced extracellular volume andconsequent activation of counterbalancing systems such as the renin–angiotensin–aldosterone system. Although with high levels ofangiotensin II, Gitelman’s patients do not display hypertension or its cardiovascular and renal remodeling complications related to overactivation of those systems. The study of renal tubular disorders, such as Gitelman’s Syndrome (GS), is of paramount importance tounderstand the molecular mechanisms involved in the onset and progression of other diseases, in particular, hypertension and its correlatedcardiovascular/renal remodeling. The kidneys play a pivotal role in the physiological fluid homeostasis, being the filtering system of thebody and determining its chemical and hormonal equilibrium.

[学科分类] 药理学