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GENATLAS PHENOTYPE

last update : 10-05-2016

Symbol	BSND1
Location	15q21.1
Name	Bartter syndrome, antenatal type 1
Other name(s)	hypokalemic alkalosis with hypercalciuria, antenatal, 1 hyperprostaglandin E syndrome 1
Corresponding gene	SLC12A1
Main clinical features	polyhydramnios, premature delivery, salt loss, hypokalemia, metabolic alkalosis, hypercalciuria, and nephrocalcinosis hypokalemic, hypochloremic metabolic alkalosis with hyperkaliury, hyperexcretion of prostaglandin E, hyperreninemia hyperaldosteronism with normal blood pressure, insensitivity to AGT2,and hyperplasia of juxtaglomerular apparatus, presenting as an antenatal form with hydramnios prematurity and dehydration at built and a classic form with failure to thrive also presentation of this syndrome with hypercalcemic hypercalciuric hyperparathyroidism
Genetic determination	autosomal recessive
Function/system disorder	kidney and urinary tract
Type	disease

Gene product

Name	Na+ : K+ : 2Cl cotransporter (SLC12A1)

Remark(s)

large number of mutations are located at the C- terminus, which is an indication of the importance of this domain in SLC12A1 protein expression and function (C- terminally truncated proteins are not expressed at the cell surface of renal cells, because they are retained in the ER) (PMID: 19535327))