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PO-0777 The Bartter Syndrome In Children
  1. M Amiryan,
  2. M Nikitina,
  3. J Leviashvili
  1. Pediatric Nephrology, Saint-Petersburg State Pediatric Medical University, Saint-Petersburg, Russia

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.

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