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Primary Fanconi renotubular syndrome

ORPHA:3337 · Disease · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(11)

  • Abnormal urine pHHP:0032943
  • Bicarbonate-wasting renal tubular acidosisHP:0004910
  • BicarbonaturiaHP:0003646
  • Generalized aminoaciduriaHP:0002909
  • GlycosuriaHP:0003076
  • Growth delayHP:0001510
  • Hyperchloremic metabolic acidosisHP:0004918
  • HyperuricosuriaHP:0003149
  • Low-molecular-weight proteinuriaHP:0003126
  • Proximal renal tubular acidosisHP:0002049
  • Renal phosphate wastingHP:0000117

Frequent (79-30%)(13)

  • Bone painHP:0002653
  • Chronic kidney diseaseHP:0012622
  • Decreased circulating carnitine concentrationHP:0003234
  • HypokalemiaHP:0002900
  • HypophosphatemiaHP:0002148
  • Hypophosphatemic ricketsHP:0004912
  • HypouricemiaHP:0003537
  • Increased susceptibility to fracturesHP:0002659
  • Increased urinary potassiumHP:0003081
  • Muscle weaknessHP:0001324
  • OsteomalaciaHP:0002749
  • Renal sodium wastingHP:0012606
  • Weight lossHP:0001824

Occasional (29-5%)(3)

  • DehydrationHP:0001944
  • HypercalciuriaHP:0002150
  • Stage 5 chronic kidney diseaseHP:0003774

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

  • HypoglycemiaHP:0001943
  • Pulmonary fibrosisHP:0002206