ESPE Abstracts

Introduction: Bartter syndrome type 2, is a rare genetically heterogenous disorder characterized by mutations in the KCNJ1 encoding the ROMK channel. This channel ensures adequate luminal potassium availability for the efficient functioning of the Na-K-2Cl co-transporter which is involved in salt reabsorption. Homozygous mutation in KCNJ1 commonly present with transient pseudohypoaldosteronism in the early neonatal period due to loss of ROMK ...