Primary hyperoxaluria type 1
ORPHA:93598Clinical subtypeAutosomal recessiveAll ages
Ассоциированные гены1
Фенотипы (HPO)19
Очень частый (80–99%)7
HP:0000121Nephrocalcinosis
HP:0000787Nephrolithiasis
HP:0001903Anemia
HP:0001942Metabolic acidosis
HP:0003159Hyperoxaluria
HP:0003761Calcinosis
HP:0011021Abnormality of circulating enzyme level
Частый (30–79%)4
HP:0100518Dysuria
HP:0000790Hematuria
HP:0001508Failure to thrive
HP:0012213Decreased glomerular filtration rate
Периодический (5–29%)4
HP:0000010Recurrent urinary tract infections
HP:0000805Enuresis
HP:0000924Abnormality of the skeletal system
HP:0003774Stage 5 chronic kidney disease
Очень редкий (1–4%)4
HP:0000164Abnormality of the dentition
HP:0001297Stroke
HP:0001939Abnormality of metabolism/homeostasis
HP:0002621Atherosclerosis
Эпидемиология6
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.015 | Netherlands | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.29 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1 | Switzerland | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.2 | Switzerland | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.83 | France | Value and class |
| Point prevalence | 1-9 / 1 000 000 | 0.1 | France | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)