Searchable abstracts of presentations at key conferences in endocrinology

ea0081p141 | Pituitary and Neuroendocrinology | ECE2022

Bartter syndrome type I: a rare cause of polyuria-polydipsia syndrome with failure to thrive in a child

Barbacariu Ioana-Cristina , blesneac ilona-beatrice , Rosu Andreea , Protop Madalina , Munteanu Mihaela , Gorduza Eusebiu-Vlad , Preda Cristina

Introduction: Bartter syndrome (BS) is a rare autosomal recessive disorder, with an estimated prevalence of 1 in 1.000.000. It is characterized by a primary defect in sodium chloride reabsorption in the medullary thick ascending limb of Henle’s loop. Severe hypokalemia, metabolic alkalosis, hyponatremia, hypochloremia, hyperaldosteronism, and increased urinary loss of sodium, potassium, and chloride can raise the suspicion of BS, but genetic testing is required for a defi...