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Proximal renal tubular acidosis

ORPHA:47159 · Disease · Disorder

HPO 表現型（共 34 項）

Very frequent (99-80%)(2)

  • Bicarbonate-wasting renal tubular acidosisHP:0004910
  • Hyperchloremic metabolic acidosisHP:0004918

Frequent (79-30%)(5)

  • BicarbonaturiaHP:0003646
  • Failure to thriveHP:0001508
  • Growth delayHP:0001510
  • HypokalemiaHP:0002900
  • VomitingHP:0002013

Occasional (29-5%)(23)

  • Abnormality of the eyeHP:0000478
  • Abnormality of the skeletal systemHP:0000924
  • AminoaciduriaHP:0003355
  • Band keratopathyHP:0000585
  • CataractHP:0000518
  • DehydrationHP:0001944
  • DiarrheaHP:0002014
  • Enamel hypomineralizationHP:0006285
  • GlaucomaHP:0000501
  • Global proximal tubulopathyHP:0012573
  • GlycosuriaHP:0003076
  • HypercalciuriaHP:0002150
  • HypernatriuriaHP:0012605
  • HyperphosphaturiaHP:0003109
  • HyperuricosuriaHP:0003149
  • HypovolemiaHP:0011106
  • Intellectual disabilityHP:0001249
  • Kidney stoneHP:0000787
  • Low-molecular-weight proteinuriaHP:0003126
  • MalabsorptionHP:0002024
  • Mild postnatal growth retardationHP:0001530
  • PolydipsiaHP:0001959
  • Reduced bone mineral densityHP:0004349

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

  • ColobomaHP:0000589
  • NephrocalcinosisHP:0000121
  • Short statureHP:0004322
  • Subvalvular aortic stenosisHP:0001682