Cystinuria
ORPHA:214DiseaseAutosomal recessive, Semi-dominantAll ages
Фенотипы (HPO)15
Очень частый (80–99%)4
HP:0000787Nephrolithiasis
HP:0000790Hematuria
HP:0003131Cystinuria
HP:0004337Abnormality of amino acid metabolism
Частый (30–79%)8
HP:0000822Hypertension
HP:0002017Nausea and vomiting
HP:0002149Hyperuricemia
HP:0012088Abnormal urinary odor
HP:0012405Hypocitraturia
HP:0030157Flank pain
HP:0033067Cystine crystalluria
HP:0000083Renal insufficiency
Периодический (5–29%)3
HP:0002150Hypercalciuria
HP:0003149Hyperuricosuria
HP:6000916Echogenic fetal colon
Эпидемиология9
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 50 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 8 | Canada | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.5 | Japan | Value and class |
| Point prevalence | 1-5 / 10 000 | 40 | Specific population | Value and class |
| Point prevalence | 1-5 / 10 000 | 14 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1 | Sweden | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 25 | Australia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.9 | United States | Value and class |
| Point prevalence | 1-9 / 100 000 | 5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)