Distal renal tubular acidosis
ORPHA:18DiseaseAutosomal dominant, Autosomal recessive, Not applicableAll ages
Фенотипы (HPO)38
Очень частый (80–99%)8
HP:0000121Nephrocalcinosis
HP:0001996Chronic metabolic acidosis
HP:0002900Hypokalemia
HP:0004349Reduced bone mineral density
HP:0004918Hyperchloremic metabolic acidosis
HP:0012405Hypocitraturia
HP:0032066Decreased serum bicarbonate concentration
HP:0032944Alkaline urine
Частый (30–79%)9
HP:0000128Renal potassium wasting
HP:0000787Nephrolithiasis
HP:0001324Muscle weakness
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0002150Hypercalciuria
HP:0003109Hyperphosphaturia
HP:0004322Short stature
HP:0012608Hypermagnesiuria
Периодический (5–29%)19
HP:0000107Renal cyst
HP:0000114Proximal tubulopathy
HP:0000407Sensorineural hearing impairment
HP:0001944Dehydration
HP:0001959Polydipsia
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002019Constipation
HP:0002653Bone pain
HP:0002659Increased susceptibility to fractures
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0002748Rickets
HP:0002749Osteomalacia
HP:0003126Low-molecular-weight proteinuria
HP:0003355Aminoaciduria
HP:0004396Poor appetite
HP:0011387Enlarged vestibular aqueduct
HP:0011964Intermittent painful muscle spasms
HP:0012213Decreased glomerular filtration rate
Очень редкий (1–4%)2
HP:0001878Hemolytic anemia
HP:0003470Paralysis
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)