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Primary hyperoxaluria type 1

ORPHA:93598 · Clinical subtype · Subtype of disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(7)

  • Abnormal circulating enzyme concentrationHP:0011021
  • AnemiaHP:0001903
  • CalcinosisHP:0003761
  • HyperoxaluriaHP:0003159
  • Kidney stoneHP:0000787
  • Metabolic acidosisHP:0001942
  • NephrocalcinosisHP:0000121

Frequent (79-30%)(4)

  • Decreased glomerular filtration rateHP:0012213
  • DysuriaHP:0100518
  • Failure to thriveHP:0001508
  • HematuriaHP:0000790

Occasional (29-5%)(4)

  • Abnormality of the skeletal systemHP:0000924
  • EnuresisHP:0000805
  • Recurrent urinary tract infectionsHP:0000010
  • Stage 5 chronic kidney diseaseHP:0003774

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

  • Abnormality of metabolism/homeostasisHP:0001939
  • Abnormality of the dentitionHP:0000164
  • AtherosclerosisHP:0002621
  • StrokeHP:0001297