[Pseudo-hypoaldosteronisms].
TWO FORMS: Pseudohypoaldosteronisms (PHA) are characterized by end-organ resistance to aldosterone inducing hyperkalemia and hyperaldosteronism. There are two forms of PHA classified according to the level of blood pressure with either hypotension (Type 1 PHA or PHA 1) or hypertension (Type 2 PHA or PHA 2). PHA 1: The association with hypotension and high renin level (PHA 1) is responsible for type 4 tubular acidosis and should suggest congenital or acquired excessive salt loss. Acquired forms are associated with salt wasting of urinary (nephropathy) or digestive (colon resection + ileostomy) origin. Congenital neonatal forms are either sporadic or autosomal dominant or recessive. Sporadic or autosomal dominant forms are caused by mutations in the mineralocorticoid receptor gene and generally remit with age. Autosomal recessive forms are caused by mutations in the gene encoding the amiloride-sensitive sodium channel and are clinically more severe with pulmonary symptoms. PHA 2: The association of hyperkalemia/hyperaldosteronism with high blood pressure should suggest PHA 2 or Gordon's syndrome, still called familial hyperkalemic hypertension. This form of low-renin hypertension is caused by mutations in the WNK genes (WNK 1 for PHA 2C and WNK 4 for PHA 2B), but other genes located on different loci are also involved. These WNK kinases constitute a new signalisation pathway that would regulate blood pressure and homeostasy of Na+, K+, H+ and Cl- ions.
Vantyghem
Marie-Christine
MC
Service d'endocrinologie et métabolisme, Centre hospitalo-universitaire de Lille (59). mc.vantyghem@chru-lille.fr
Perimenis
Pierrette
P
Wemeau
Jean-Louis
JL
D001794:Blood Pressure / Q000502:physiology; D006706:Homeostasis; D006801:Humans; D006947:Hyperkalemia / Q000209:etiology; D006973:Hypertension / Q000209:etiology*; D007022:Hypotension / Q000209:etiology*; D011546:Pseudohypoaldosteronism / Q000151:congenital / Q000235:genetics / Q000473:pathology*; D015398:Signal Transduction