ea0017p27 | (1) | BSPED2008
Bandhakavi M
, Kirk J
, Hogler W
, Barrett T
, Shaw N
Type 1 pseudohypoaldosteronism (PHA1), defined as resistance to aldosterone, is characterised by salt wasting, hyperkalemia and metabolic acidosis and is associated with high renin and aldosterone levels. The autosomal recessive form is characterised by generalised salt wasting and is due to a defect in the epithelial sodium channel. Whilst there are individual case reports on this condition, there are little published data on long-term outcome including neurodevelopment.<...