Pathophysiology of antenatal Bartter's syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Current Opinion in Nephrology and Hypertension"
DOI: 10.1097/mnh.0000000000000346
Abstract: Purpose of review Antenatal Bartter syndrome (aBS) is a heterogenous disease resulting from defective ion transport in the thick ascending limb of the loop of Henle. Novel insights into the pathophysiology, as well as the… read more here.
Keywords: bartter syndrome; antenatal bartter; pathophysiology antenatal;
Antenatal Bartter syndrome presenting with vomiting and constipation mimicking subacute intestinal obstruction in a 20-day-old neonate
Sign Up to like & getrecommendations! Published in 2017 at "BMJ Case Reports"
DOI: 10.1136/bcr-2017-221062
Abstract: Antenatal Bartter syndrome is a rare condition that can present with different clinical features. These features include early onset maternal polyhydramnios, failure to thrive, prematurity and nephrocalcinosis. We are presenting this 20-day-old girl who had… read more here.
Keywords: day old; bartter syndrome; intestinal obstruction; antenatal bartter ... See more keywords
Antenatal Bartter Syndrome Caused by a Novel Homozygous Mutation in SLC12A1 Gene
Sign Up to like & getrecommendations! Published in 2019 at "Indian Journal of Nephrology"
DOI: 10.4103/ijn.ijn_175_18
Abstract: Antenatal Bartter syndrome (BS) is an autosomal recessive hereditary renal tubular disorder caused by mutation in the solute carrier family 12 member 1 (SLC12A1) gene on chromosome 15q21.1. This syndrome is characterized by polyuria, hyponatremia,… read more here.
Keywords: slc12a1 gene; antenatal bartter; bartter syndrome; syndrome ... See more keywords