Bartter syndrome type 4
ORPHA:89938Clinical subtypeAutosomal recessiveAntenatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| BSND | barttin CLCNK type accessory subunit beta | Disease-causing germline mutation(s) in | gene with protein product | 606412 |
| CLCNKB | chloride voltage-gated channel Kb | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602023 |
| CLCNKA | chloride voltage-gated channel Ka | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602024 |
Фенотипы (HPO)36
Очень частый (80–99%)8
HP:0000127Renal salt wasting
HP:0000841Hyperactive renin-angiotensin system
HP:0000848Increased circulating renin level
HP:0000859Hyperaldosteronism
HP:0001960Hypokalemic metabolic alkalosis
HP:0002900Hypokalemia
HP:0004727Impaired renal concentrating ability
HP:0008619Bilateral sensorineural hearing impairment
Частый (30–79%)16
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0001324Muscle weakness
HP:0001508Failure to thrive
HP:0001518Small for gestational age
HP:0001561Polyhydramnios
HP:0001622Premature birth
HP:0002150Hypercalciuria
HP:0002902Hyponatremia
HP:0002917Hypomagnesemia
HP:0003081Increased urinary potassium
HP:0003113Hypochloremia
HP:0003527Hyperprostaglandinuria
HP:0012622Chronic kidney disease
HP:0025335Delayed ability to stand
HP:0031936Delayed ability to walk
Периодический (5–29%)9
HP:0000121Nephrocalcinosis
HP:0000712Emotional lability
HP:0001525Severe failure to thrive
HP:0001919Acute kidney injury
HP:0001944Dehydration
HP:0002013Vomiting
HP:0002312Clumsiness
HP:0003774Stage 5 chronic kidney disease
HP:0040288Nasogastric tube feeding
Очень редкий (1–4%)2
HP:0000325Triangular face
HP:0000411Protruding ear
Исключён (0%)1
HP:0000822Hypertension
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)