Clinical and laboratory study of infants and children with Bartter syndrome attending Alexandria University Children’s Hospital (10 years experience)

Abstract

Background Bartter syndrome (BS) is a group of inherited, salt-losing tubulopathies presenting as metabolic alkalosis with normotensive hyperreninemia and hyperaldosteronism. It is a consequence of abnormal function of the kidneys, which become unable to properly regulate the volume and composition of body fluids because of defective reabsorption of NaCl in loop of Henle. A first consequence of the tubular defect in BS is polyuria, which is responsible for particular complications of pregnancy − that is, polyhydramnios and premature delivery. Low potassium levels in the blood may result from overactivity of the renin–angiotensin II–aldosterone hormone system that is essential in controlling blood pressure. To date, at least five genes have been linked to BS, and they characterize five types of BS. Aim The aim of this work is to study the clinical and laboratory data of infants and children with BS attending Alexandria University Children’s Hospital during a 10-year period (January 2004–December 2013). Participants and methods A retrospective analysis of children diagnosed with BS attending Alexandria University Children’s Hospital during a 10-year period (January 2004–December 2013) was carried out. On the basis of the clinical, biochemical features, and ultrasonographic findings, 20 children were diagnosed with BS. Their demographic, clinical, biochemical, and hormonal profiles were analyzed. Follow-up data and outcomes were recorded. Results The majority of cases had perinatal history of polyhydraminos. All cases had high urinary chloride in spot urine analysis. The mainstay of treatment in BS is potassium supplementation and indomethacin. Correction of hypokalemia and hyperprostaglandinemia are mandatory for improving the symptoms (vomiting, polyuria) and chronic sequalae such as FTT and growth retardation. Conclusions According to this study, BS should be suspected in any child with a history of failure to thrive and metabolic alkalosis. Early diagnosis and treatment with NSAIDs are life-saving.