A Case of Neonatal Bartter Syndrome

ABSTRACT

Bartter and Bartter-like syndromes, which include classic Bartter syndrome(type III), neonatal Bartter syndrome(type I, II or IV) and Gitelman syndrome, are autosomal - recessively inherited renal tubular disorders characterized by hypokalemic metabolic alkalosis, salt wasting and normal to low blood pressure. Neonatal Bartter syndrome is characterized by intrauterine polyhydramnios, premature delivery, life-threatening episodes of fever and dehydration, subsequent failure to thrive, and severe hypercalciuria with nephrocalcinosis and osteopenia. It is caused by mutations in NKCC2(type I), ROMK(type II) or BSND(type IV) genes. If diagnosed and treated early, the progression to renal failure can be prevented and catch-up growth and normal development are achieved. We report here a 6 month-old infant with neonatal Bartter syndrome who presented with hypokalemic metabolic alkalosis, polyhydramnios and premature delivery, persistent high fever and dehydration, failure to thrive, hypercalciuria, and nephrocalcinosis. He received indomethacin and potassium chloride per os and showed catch-up growth and normal developmental profile at 19 months of age.