Kmonickova M.,Detske oddeleni |
Blahova K.,Pediatricka klinika FN Motol a 2. LF UK |
Kutilek S.,Detske oddeleni |
Zemanova M.,Detske oddeleni |
Nemec V.,Detske oddeleni
Pediatrie pro Praxi | Year: 2013
Bartter syndrome represents a set of closely related autosomal recessive renal tubular disorders characterized by hypokalemia, hypochloremia, metabolic alkalosis and hyperreninemia with normal blood pressure. Advances in molecular diagnostics have revealed that Bartter syndrome results from mutation in numerous genes that affect the function of ion channels and transporters normally mediating transepithelial salt reabsorption in the sick ascending limb of loop of Henle. We present the case of the patient who was born in Pardubice Hospital in June 2010. The boy was diagnosed with neonatal Bartter syndrome.