pseudohypoaldosteronism type 1
Jump to navigation
Jump to search
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