← 返回搜尋

Juvenile nephropathic cystinosis

ORPHA:411634 · Clinical subtype · Subtype of disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(1)

  • Abnormal cornea morphologyHP:0000481

Frequent (79-30%)(11)

  • AminoaciduriaHP:0003355
  • Corneal crystalsHP:0000531
  • GlycosuriaHP:0003076
  • Low-molecular-weight proteinuriaHP:0003126
  • Ocular painHP:0200026
  • PhotophobiaHP:0000613
  • ProteinuriaHP:0000093
  • Proximal tubulopathyHP:0000114
  • Renal Fanconi syndromeHP:0001994
  • Renal insufficiencyHP:0000083
  • VomitingHP:0002013

Occasional (29-5%)(18)

  • Abnormal urine potassium concentrationHP:0012598
  • Chronic kidney diseaseHP:0012622
  • Decreased circulating vitamin D concentrationHP:0100512
  • Elevated alkaline phosphatase of bone originHP:0010639
  • Elevated circulating creatinine concentrationHP:0003259
  • Elevated leukocyte cystineHP:0032639
  • Growth delayHP:0001510
  • HypocalcemiaHP:0002901
  • HypokalemiaHP:0002900
  • HyponatremiaHP:0002902
  • HypophosphatemiaHP:0002148
  • HypothyroidismHP:0000821
  • HypouricemiaHP:0003537
  • Microscopic hematuriaHP:0002907
  • PolydipsiaHP:0001959
  • Poor appetiteHP:0004396
  • Renal phosphate wastingHP:0000117
  • Stage 5 chronic kidney diseaseHP:0003774

Very rare (<4-1%)(9)

  • Abnormal long bone morphologyHP:0011314
  • DehydrationHP:0001944
  • Delayed skeletal maturationHP:0002750
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Hypocalcemic tetanyHP:0003472
  • HypovolemiaHP:0011106
  • Metabolic acidosisHP:0001942
  • SeizureHP:0001250