Dent disease
ORPHA:1652DiseaseX-linked recessiveChildhood
Фенотипы (HPO)40
Очень частый (80–99%)20
HP:0000083Renal insufficiency
HP:0000092Renal tubular atrophy
HP:0000093Proteinuria
HP:0000097Focal segmental glomerulosclerosis
HP:0000114Proximal tubulopathy
HP:0000117Renal phosphate wasting
HP:0000787Nephrolithiasis
HP:0000790Hematuria
HP:0002150Hypercalciuria
HP:0002757Recurrent fractures
HP:0003355Aminoaciduria
HP:0003076Glycosuria
HP:0003109Hyperphosphaturia
HP:0003126Low-molecular-weight proteinuria
HP:0003149Hyperuricosuria
HP:0005576Tubulointerstitial fibrosis
HP:0005574Non-acidotic proximal tubulopathy
HP:0012622Chronic kidney disease
HP:0008732Renal hypophosphatemia
HP:0031415High serum calcitriol
Частый (30–79%)4
HP:0000121Nephrocalcinosis
HP:0002027Abdominal pain
HP:0002653Bone pain
HP:0003236Elevated circulating creatine kinase concentration
Периодический (5–29%)16
HP:0000518Cataract
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
HP:0002663Delayed epiphyseal ossification
HP:0002748Rickets
HP:0002814Abnormality of the lower limb
HP:0002749Osteomalacia
HP:0002752Sparse bone trabeculae
HP:0002753Thin bony cortex
HP:0002979Bowing of the legs
HP:0003013Bulging epiphyses
HP:0010580Enlarged epiphyses
HP:0003020Enlargement of the wrists
HP:0003025Metaphyseal irregularity
HP:0003029Enlargement of the ankles
HP:0011342Mild global developmental delay
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 250 | Worldwide | Family(ies) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)