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pseudohypoaldosteronism type 1

Epidemiology: - autosomal recessive form is rare Pathology: - urinary salt wasting, resulting from target organ unresponsiveness to mineralocorticoids - pathology due to defects in any of the epithelial Na+ channel subunits - in autosomal dominant PHA1 the target organ defect is confined to kidney Genetics: - autosomal dominant & autosomal recessive forms - familial & sporadic cases have been reported - associated with defects in NR3C2 - autosomal recessive form associated with defects in amiloride-sensitive Na+ channel subunit beta (SCNN1B) Clinical manifestations: - autosomal dominant form is mild - recessive form is more severe - clinical expression can vary from asymptomatic to moderate - it may be severe at birth, but symptoms remit with age

General

genetic disease of the endocrine system pseudohypoaldosteronism

Database Correlations

OMIM correlations

References

  1. OMIM :accession 177735
  2. OMIM :accession 264350