PO-0777 The Bartter Syndrome In Children

Abstract

Abstract Bartter syndrome (BS) tubulopathy with autosomal recessive (AR) type of genetic inheritance, manifested hypokalemia, metabolic alkalosis, hyperreninemia, hyperplasia juxtaglomerular apparatus (JGA), hyperaldosteronism, in some patients, hypomagnesemia. Classification: primary, congenital, genetically based, secondary in the structure of other family kidney disease. Objective Explore catamnesis of 5 children to identify the course and treatment of BS. Methods Catamnestic, clinical and laboratory, molecular genetic methods. Results Of the 5 patients observed in 3 diagnosed primary, genetically determined BS, have 2 secondary BS. Main manifestations of BS with neonatal age: vomiting, diarrhoea, polyuria, polydipsia, signs of dehydration, with infants: hypocalcemic convulsions, paresis hypokalemic. In 3 children with AR Bartter syndrome aged 1–5 years observed: polyuria, polydipsia, growth retardation and psychomotor development, uncompensated metabolic alkalosis, hypochloremia, hypocalcemia, hyponatremia, acidaminuria, increased excretion of K, Na, Cl in urine, nephrocalcinosis, calciuria, hypokalemia (from 2.2–3.3 mmol/l), hyperprostaglandin-E-emia. Genetic testing of l type BS found a replacement gene with 3287 C > T(r. Thr1096 IIe) in the heterozygous state. Children with secondary forms, aged 3–11 years, BS manifested on the background of pheochromocytoma without dysfunction the decrease in glomerular filtration rate. In a result of therapy with indomethacin, drugs potassium all patients had elevated potassium in serum, corrected metabolic alkalosis. Conclusions Bartter syndrome – is a rare tubulopathy. The necessary therapy with nonsteroidal anti-inflammatory drugs (indometacin, celecoxib) drugs potassium prevents the development of complications.