Case Report: Type II Bartter syndrome with a novel KCNJ1 variant in a premature neonate presenting with features of salt-wasting congenital adrenal crisis and pseudo-hypoaldosteronism

Though hypokalemia is the key feature of BS, transient hyperkalemia can occur in the early neonatal period in BS type II. Antenatal history should be enquired thoroughly to look for presence of severe unexplained polyhydramnios. The diagnosis of BS type II should be considered if other biochemical features are present. Genetic tests are important to provide a definite diagnosis and guide subsequent management and genetic counselling.