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Pseudohypoaldosteronism type 1
Pseudohypoaldosteronism type 1 (PHA1) is a primary form of mineralocorticoid resistance presenting in the newborn with renal salt wasting, failure to thrive and dehydration.
ORPHA:756Classification level: Disorder
Prevalence is unknown.
Two clinical forms have been described: i) a renal form (renal PHA1; see this term) that improves with age and in which mineralocorticoid resistance is restricted to the kidney, and ii) a generalized severe form (generalized PHA1; see this term) that persists into adulthood and in which mineralocorticoid resistance is systemic and salt loss occurs in multiple organs.
Renal PHA1 is caused by mutations in the gene encoding the mineralocorticoid receptor (NR3C2) and generalized PHA1 is caused by mutations in the genes coding for the subunits of the amiloride-sensitive sodium channel (SCNN1A, SCNN1B and SCNN1G).
Renal PHA1 is transmitted in an autosomal dominant manner or occurs sporadically. Generalized PHA1 is transmitted in an autosomal recessive manner.