Home Page
References OMIM Gene GeneReviews HGMD HGNC
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))