Hereditary xanthinuria
ORPHA:3467DiseaseAutosomal recessiveAll ages
Фенотипы (HPO)21
Очень частый (80–99%)2
HP:0003537Hypouricemia
HP:0011935Decreased urinary urate
Частый (30–79%)9
HP:0000791Uric acid nephrolithiasis
HP:0000804Xanthine nephrolithiasis
HP:0002932Aldehyde oxidase deficiency
HP:0003534Reduced xanthine dehydrogenase activity
HP:0003643Sulfite oxidase deficiency
HP:0010933Hyperxanthinemia
HP:0010934Xanthinuria
HP:0011814Increased urinary hypoxanthine
HP:0020074Crystalluria
Периодический (5–29%)9
HP:0000010Recurrent urinary tract infections
HP:0000790Hematuria
HP:0001919Acute kidney injury
HP:0003040Arthropathy
HP:0003198Myopathy
HP:0003326Myalgia
HP:0003394Muscle spasm
HP:0012622Chronic kidney disease
HP:0030157Flank pain
Очень редкий (1–4%)1
HP:0001997Gout
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 150 | Worldwide | Case(s) |
| Annual incidence | 1-9 / 100 000 | 9.05 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)