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Синдром Барттера, тип 4

ORPHA:89938· ICD-10 E26.8· Bartter syndrome type 4

Визначення(English summary)

A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.

Поширеність
Unknown
Успадкування
Autosomal recessive
Вік початку
Antenatal