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Distal renal tubular acidosis

ORPHA:18 · Disease · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(8)

  • Alkaline urineHP:0032944
  • Chronic metabolic acidosisHP:0001996
  • Decreased serum bicarbonate concentrationHP:0032066
  • Hyperchloremic metabolic acidosisHP:0004918
  • HypocitraturiaHP:0012405
  • HypokalemiaHP:0002900
  • NephrocalcinosisHP:0000121
  • Reduced bone mineral densityHP:0004349

Frequent (79-30%)(9)

  • Failure to thriveHP:0001508
  • Growth delayHP:0001510
  • HypercalciuriaHP:0002150
  • HypermagnesiuriaHP:0012608
  • HyperphosphaturiaHP:0003109
  • Kidney stoneHP:0000787
  • Muscle weaknessHP:0001324
  • Renal potassium wastingHP:0000128
  • Short statureHP:0004322

Occasional (29-5%)(19)

  • AminoaciduriaHP:0003355
  • Bone painHP:0002653
  • ConstipationHP:0002019
  • Decreased glomerular filtration rateHP:0012213
  • DehydrationHP:0001944
  • DiarrheaHP:0002014
  • Enlarged vestibular aqueductHP:0011387
  • Increased susceptibility to fracturesHP:0002659
  • Intermittent painful muscle spasmsHP:0011964
  • Low-molecular-weight proteinuriaHP:0003126
  • OsteomalaciaHP:0002749
  • PolydipsiaHP:0001959
  • Poor appetiteHP:0004396
  • Proximal tubulopathyHP:0000114
  • Renal cystHP:0000107
  • Respiratory insufficiency due to muscle weaknessHP:0002747
  • RicketsHP:0002748
  • Sensorineural hearing impairmentHP:0000407
  • VomitingHP:0002013

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

  • Hemolytic anemiaHP:0001878
  • ParalysisHP:0003470