Inherited renal tubulopathies associated with metabolic alkalosis: effects on blood pressure.
Inherited tubular disorders associated with metabolic alkalosis are caused by several gene mutations encoding different tubular transporters responsible for NaCl renal handling. Body volume and renin-angiotensin-aldosterone system status are determined by NaCl reabsorption in the distal nephron. Two common hallmarks in affected individuals: hypokalemia and normal / high blood pressure, support the differential diagnosis. Bartter's syndrome, characterized by hypokalemia and normal blood pressure, is a heterogenic disease caused by the loss of function of SLC12A1 (type 1), KCNJ1 (type 2), CLCNKB (type 3), or BSND genes (type 4). As a result, patients present with renal salt wasting and hypercalciuria. Gitelman's syndrome is caused by the loss of funcion of the SLC12A3 gene and may resemble Bartter's syndrome, though is associated with the very low urinary calcium. Liddle's syndrome, also with similar phenotype but with hypertension, is produced by the gain of function of the SNCC1B or SNCC1G genes, and must be distinguished from other entities of inherited hypertension such as Apparently Mineralocorticoid Excess, of glucocorticoid remediable hypertension.
Ariceta
Gema
G
Division of Pediatric Nephrology, Department of Pediatrics, Hospital de Cruces and Basque University School of Medicine, Bilbao, Spain. gariceta@hcru.osakidetza.net
Rodríguez-Soriano
Juan
J
D000450:Aldosterone / Q000097:blood; D000471:Alkalosis / Q000097:blood / Q000150:complications* / Q000503:physiopathology; D015415:Biomarkers / Q000097:blood; D001794:Blood Pressure / Q000502:physiology*; D006801:Humans; D007008:Hypokalemia / Q000097:blood / Q000150:complications / Q000503:physiopathology; D011188:Potassium / Q000097:blood; D011379:Prognosis; D015499:Renal Tubular Transport, Inborn Errors / Q000097:blood / Q000209:etiology / Q000503:physiopathology
D015415:Biomarkers; D000450:Aldosterone; D011188:Potassium