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Familial hypoaldosteronism

ORPHA:427 · Disease · Disorder

HPO 表現型（共 19 項）

Obligate (100%)(2)

  • Increased circulating renin concentrationHP:0000848
  • Renal salt wastingHP:0000127

Very frequent (99-80%)(7)

  • Adrenal insufficiencyHP:0000846
  • Decreased circulating aldosterone concentrationHP:0004319
  • Failure to thriveHP:0001508
  • HyperkalemiaHP:0002153
  • HyponatremiaHP:0002902
  • HypotensionHP:0002615
  • HypovolemiaHP:0011106

Frequent (79-30%)(10)

  • Decreased urinary potassiumHP:0012364
  • DiarrheaHP:0002014
  • Feeding difficultiesHP:0011968
  • Growth delayHP:0001510
  • LethargyHP:0001254
  • Metabolic acidosisHP:0001942
  • Nausea and vomitingHP:0002017
  • Orthostatic hypotensionHP:0001278
  • Proximal renal tubular acidosisHP:0002049
  • Recurrent feverHP:0001954