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Bartter syndrome type 4

ORPHA:89938 · Clinical subtype · Subtype of disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(8)

  • Bilateral sensorineural hearing impairmentHP:0008619
  • Hyperactive renin-angiotensin systemHP:0000841
  • HypokalemiaHP:0002900
  • Hypokalemic metabolic alkalosisHP:0001960
  • Impaired renal concentrating abilityHP:0004727
  • Increased circulating aldosterone concentrationHP:0000859
  • Increased circulating renin concentrationHP:0000848
  • Renal salt wastingHP:0000127

Frequent (79-30%)(16)

  • Chronic kidney diseaseHP:0012622
  • Delayed ability to standHP:0025335
  • Delayed ability to walkHP:0031936
  • Failure to thriveHP:0001508
  • HypercalciuriaHP:0002150
  • HyperprostaglandinuriaHP:0003527
  • HypochloremiaHP:0003113
  • HypomagnesemiaHP:0002917
  • HyponatremiaHP:0002902
  • HypotoniaHP:0001252
  • Increased urinary potassiumHP:0003081
  • Motor delayHP:0001270
  • Muscle weaknessHP:0001324
  • PolyhydramniosHP:0001561
  • Premature birthHP:0001622
  • Small for gestational ageHP:0001518

Occasional (29-5%)(9)

  • Acute kidney injuryHP:0001919
  • ClumsinessHP:0002312
  • DehydrationHP:0001944
  • Emotional labilityHP:0000712
  • Nasogastric tube feedingHP:0040288
  • NephrocalcinosisHP:0000121
  • Severe failure to thriveHP:0001525
  • Stage 5 chronic kidney diseaseHP:0003774
  • VomitingHP:0002013

Very rare (<4-1%)(2)

  • Protruding earHP:0000411
  • Triangular faceHP:0000325

Excluded (0%)(1)

  • HypertensionHP:0000822