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Dent disease

ORPHA:1652 · Disease · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(20)

  • AminoaciduriaHP:0003355
  • Chronic kidney diseaseHP:0012622
  • Elevated circulating calcitriol concentrationHP:0031415
  • Focal segmental glomerulosclerosisHP:0000097
  • GlycosuriaHP:0003076
  • HematuriaHP:0000790
  • HypercalciuriaHP:0002150
  • HyperphosphaturiaHP:0003109
  • HyperuricosuriaHP:0003149
  • Kidney stoneHP:0000787
  • Low-molecular-weight proteinuriaHP:0003126
  • Non-acidotic proximal tubulopathyHP:0005574
  • ProteinuriaHP:0000093
  • Proximal tubulopathyHP:0000114
  • Recurrent fracturesHP:0002757
  • Renal hypophosphatemiaHP:0008732
  • Renal insufficiencyHP:0000083
  • Renal phosphate wastingHP:0000117
  • Renal tubular atrophyHP:0000092
  • Tubulointerstitial fibrosisHP:0005576

Frequent (79-30%)(4)

  • Abdominal painHP:0002027
  • Bone painHP:0002653
  • Elevated circulating creatine kinase activityHP:0003236
  • NephrocalcinosisHP:0000121

Occasional (29-5%)(16)

  • Abnormality of the lower limbHP:0002814
  • Bowing of the legsHP:0002979
  • Bulging epiphysesHP:0003013
  • CataractHP:0000518
  • Delayed epiphyseal ossificationHP:0002663
  • Enlarged epiphysesHP:0010580
  • Enlargement of the anklesHP:0003029
  • Enlargement of the wristsHP:0003020
  • HypotoniaHP:0001252
  • Metaphyseal irregularityHP:0003025
  • Mild global developmental delayHP:0011342
  • Mild intellectual disabilityHP:0001256
  • OsteomalaciaHP:0002749
  • RicketsHP:0002748
  • Sparse bone trabeculaeHP:0002752
  • Thin bony cortexHP:0002753