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Renal pseudohypoaldosteronism type 1

Disease definition

A form of pseudohypoaldosteronism type 1 characterized by mild mineralocorticoid resistance that is restricted to the kidneys and that usually improves in early childhood. Typical presentation is in the neonatal period with weight loss, failure to thrive, vomiting and dehydration in association with hyponatremia, hyperkalemia and metabolic acidosis as well as elevated aldosterone and renin levels.

ORPHA:171871

Classification level: Subtype of disorder
  • Synonym(s):
    • Autosomal dominant PHA1
    • Autosomal dominant pseudohypoaldosteronism type 1
    • PHA1 rénal
    • Renal PHA1
  • Prevalence: -
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: N25.8
  • OMIM: 177735
  • UMLS: C1449842
  • MeSH: -
  • GARD: 9145
  • MedDRA: -

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.