Abstract
Bartter Syndrome (BS) is a hereditary condition characterized by polyuria, renal salt wasting, and hypokalemic metabolic alkalosis with high serum renin and aldosterone levels. Patients with BS usually have symptoms in the first two years of life, but they might also be diagnosed at school age or later. Associations between congenital renal and urinary system anomalies and BS are extremely rare. Here we present a case of a 4-year-old girl having a solitary functioning kidney (SFK) due to right renal agenesis, who eventually diagnosed as BS in the light of clinical and laboratory findings. The patient applied to the pediatric nephrology department with the complaint of polyuria. Laboratory evaluation revealed hyponatremia, hypochloremia, hypokalemia with metabolic alkalosis, and high renin and aldosterone levels. Urine sodium, chloride, potassium excretions were increased. Sweat test was normal. CLCNKB mutation with the diagnosis of classic BS was negative. We assume that our patient might have another type of BS with a milder mutation. Urinary anomalies accompanying BS are very rarely reported and up to our knowledge the togetherness of renal agenesis and BS has not been defined in the literature yet.
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