Proximal renal tubular acidosis
ORPHA:47159DiseaseAutosomal dominant, Autosomal recessive, Not applicableAll ages
Фенотипы (HPO)34
Очень частый (80–99%)2
HP:0004910Bicarbonate-wasting renal tubular acidosis
HP:0004918Hyperchloremic metabolic acidosis
Частый (30–79%)5
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0002013Vomiting
HP:0002900Hypokalemia
HP:0003646Bicarbonaturia
Периодический (5–29%)23
HP:0000478Abnormality of the eye
HP:0000501Glaucoma
HP:0000518Cataract
HP:0000585Band keratopathy
HP:0000787Nephrolithiasis
HP:0000924Abnormality of the skeletal system
HP:0001249Intellectual disability
HP:0001530Mild postnatal growth retardation
HP:0001944Dehydration
HP:0001959Polydipsia
HP:0002014Diarrhea
HP:0002024Malabsorption
HP:0002150Hypercalciuria
HP:0003076Glycosuria
HP:0003109Hyperphosphaturia
HP:0003126Low-molecular-weight proteinuria
HP:0003149Hyperuricosuria
HP:0003355Aminoaciduria
HP:0004349Reduced bone mineral density
HP:0006285Enamel hypomineralization
HP:0011106Hypovolemia
HP:0012573Global proximal tubulopathy
HP:0012605Hypernatriuria
Очень редкий (1–4%)4
HP:0000121Nephrocalcinosis
HP:0000589Coloboma
HP:0001682Subvalvular aortic stenosis
HP:0004322Short stature
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)