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Bartter syndrome type 4

Disease Export to PDF
Name:
Bartter syndrome type 4
Description:
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.
ORPHAcode:
89938
Synonyms:
Bartter syndrome type IV
Bartter syndrome with sensorineural deafness
Bartter syndrome with sensorineural hearing loss
XREF(s):
Orphanet
ICD-10
OMIM
OMIM
Analyte(s):
BSND
CLCNKB
CLCNKA
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14