Inherited sodium avid states.
Several familial forms of hypertension have been identified, in which the mendelian pattern of inheritance indicated that hypertension results from the alteration of a single gene. This short review focuses on those rare monogenic disorders characterized by a low-renin profile. This common feature reflects that the causative mutations responsible for these disorders all result in an excessive sodium reabsorption in the aldosterone-dependent nephron. Low-renin familial hypertensions with hypokalemia encompass familial hyperaldosteronisms, in which aldosterone levels are elevated, and familial pseudohyperaldosteronisms, mimicking aldosteronism despite appropriately suppressed aldosterone levels. In these disorders, the avidity of the kidney for sodium is because of dysregulated sodium reabsorption through the epithelial sodium channel ENaC and results in potassium wasting and metabolic alcalosis. Familial hypertension with hyperkalemia is a specific syndrome resulting from mutations in at least 3 different genes, among which 2 have been recently identified. These genes encode members of a new family of kinase, the WNK kinases, involved in the regulation of sodium and potassium excretion by the kidney.
Division of Nephrology and Department of Physiology, Limoges University Hospital, Limoges, France. jean-michel.achard@unilim.fr
Jean-Michel
JM
Achard
Juliette
J
Hadchouel
Sébastien
S
Faure
Xavier
X
Jeunemaitre
D000450:Aldosterone / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D006801:Humans; D006973:Hypertension / Q000235:genetics* / Q000378:metabolism*; D009399:Nephrons / Q000378:metabolism*; D012083:Renin / Q000097:blood; D012964:Sodium / Q000378:metabolism*; D015222:Sodium Channels / Q000378:metabolism*
D015222:Sodium Channels; D000450:Aldosterone; D012964:Sodium; D012083:Renin