Download docx - Bartter Syndrome

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In 90% of cases, neonatal Bartter syndrome is seen between 24 and 30 weeks of gestation with excess amniotic fluid(polyhydamnios!" #fte bith, the infant is seen to uinate and dink excessi$ely (polyuia, and polydipsia, especti$ely!" %ife&theatening dehydation may esult if the infant does not ecei$e ade'uate fluids" #bout ()% of infants dispose of excess amounts of calcium in the uine (hypecalciuia! and kidneys (nephocalcinosis!, which may lead to kidney stones" In ae occasions, the infant may pogess to enal failue"*atients with classic Bartter syndrome may ha$e symptoms in the fist two yeas of life, but they ae usually diagnosed at school age o late" %ike infants with the neonatal subtype, patients with classic +atte syndome also ha$e polyuia, polydipsia, and a tendency to dehydation, but nomal o ,ust slightly inceased uinay calcium excetion without the tendency to de$elop kidney stones" -hese patients also ha$e $omiting and gowth etadation" .idney function is also nomal if the disease is teated,/20 but occasionally patients poceed to end&stage enal failue" +atte1s syndome consists of hypokalaemia, alkalosis, nomal to low blood pessues, and ele$ated plasma enin and aldosteone" 2umeous causes of this syndome pobably exist" 3iagnostic pointes include high uinay potassium and chloide despite low seum $alues, inceased plasma enin, hypeplasia of the ,uxtaglomeula appaatus on enal biopsy, and caeful exclusion of diuetic abuse" 4xcess poduction of enal postaglandins is often found" 5agnesium wasting may also occu"


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