Mymensingh medical journal : MMJ · 2020
Antenatal Bartter Syndrome: A Case Report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Akther M, Moni S C, Jahan I, Shabuj K H, Dey S K, Mannan M A, Shahidullah M
Аннотация
Bartter syndrome is an autosomal recessive disorder manifested by a defect in sodium-potassium-chloride transport in the thick ascending limb of Henle with different genetic origins and molecular pathophysiology. Bartter syndrome usually a common disease in children and in early infancy presented with persistent polyuria and associated with dehydration, electrolyte imbalance, and failure to thrive. Though prompt diagnosis and proper treatment of Bartter syndrome may improve the outcome, some children will progress to renal failure. We report a case of a 6 days-old male infant who was admitted in Neonatal Intensive Care Unit, Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh on 26 April 2018 for prematurity and low birth weight. On subsequent follow up he developed electrolyte imbalance and failure to thrive. Laboratory studies revealed hyponatremia, hypochloremic metabolic alkalosis with severe hypokalemia. When excessive chloride losses appear to be renal in origin and the patient has normal blood pressure and high levels of serum renin and aldosterone were considered as Bartter syndrome. Molecular genetic studies are indicated to identify the primary genetic defect.