[Contribution of monogenic hypertension models to understanding of other hypertensions].
Therapeutic control of primary or secondary hypertension remains insufficient because of the presence of individual phenotypic variations of factors acting on sodium excretion and vasoconstriction. The study of monogenic models of hypertension allows to highlight some genetic mutations, mainly responsible of sodium regulation. In some cases, polymorphisms of such genes are found with an increased frequency in hypertensive patients. Each polymorphism by itself is not sufficient to cause hypertension, but their accumulation in a patient increases the hypertensive risk in primary or secondary hypertension. Understanding familial hyperaldosteronism type 1, Liddle or Ulick syndrome, activating mutations of minéralocorticoide receptor or Gordon syndrome give indications on pathophysiology of primary hypertension. Study of some mitochondrial defects or of genes implicated in renal dysplasia also seems interesting area of research. In the future, search for such mechanisms would allow a rational and oriented use of diuretics and antihypertensive therapies.
Bérard
Etienne
E
Service de pédiatrie, hôpital de l'Archet-2, 151, avenue de Saint-Antoine-Ginestière, B.P. 3079, 06202 Nice cedex 3, France. berard.e@chu-nice.fr
D000310:Adrenal Gland Neoplasms / Q000235:genetics; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics; D053503:Epithelial Sodium Channels / Q000235:genetics; D006801:Humans; D006929:Hyperaldosteronism / Q000235:genetics; D006973:Hypertension / Q000145:classification / Q000235:genetics*; D007668:Kidney / Q000002:abnormalities; D043204:Mineralocorticoid Excess Syndrome, Apparent / Q000235:genetics; D010673:Pheochromocytoma / Q000235:genetics; D012964:Sodium / Q000652:urine
D053503:Epithelial Sodium Channels; C507048:SCNN1B protein, human; D012964:Sodium