Orphanet: Pseudohypoaldosteronism type 1

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Pseudohypoaldosteronism type 1

Disease definition

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:756

Classification level: Disorder

Synonym(s):
- PHA type 1
Prevalence: <1 / 1 000 000
Inheritance: Autosomal dominant or Autosomal recessive or Not applicable
Age of onset: Infancy, Neonatal
ICD-10: N25.8
OMIM: 177735 264350
UMLS: C0268436 C1449843
MeSH: D011546
GARD: -
MedDRA: -

Summary

Epidemiology

Prevalence is unknown.

Clinical description

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.

Etiology

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).

Genetic counseling

Renal PHA1 is transmitted in an autosomal dominant manner or occurs sporadically. Generalized PHA1 is transmitted in an autosomal recessive manner.

Expert reviewer(s): Dr Maria-Christina ZENNARO - Last update: January 2009

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