hrp0098p3-179 | Growth and Syndromes | ESPE2024

Brazilian children with severe short stature and Batter syndrome type 3: a case series

Malaquias Alexsandra , Novaes Andrea , Augusto Jorge Alexander , de Andrade Nathalia , Avelino Vivian , Ayonan Marcella , Jose Sousa Randerson , Nascimento Daniel , Nishikawa Yuka , Izabel Gonçalves Maria

Brief summary: This case series of three patients with Bartter syndrome (BS) type 3 treated in Sao Paulo and Santarem, Brazil is presented to highlight the difficulties of clinical management and diagnosis. BS is an inherited disorder characterized by impaired sodium chloride reabsorption in the cortical and medullary thick ascending limbs of the loop of Henle and secondary hypokalemic alkalosis. In Brazil, genetic testing for this disease is not common. Howev...