Classic Bartter syndrome: a rare cause of failure to thrive in a child

• Published in: BMJ case reports 2012-06, Vol.2012 (jun28 1), p.bcr0220125888-bcr0220125888
• Main Authors: Vieira, Helena, Mendes, Leonor, Mendes, Patricia, da Silva, José Esteves
• Format: Article
• Language: English
• Subjects: 12 months; Alkalosis; Alkalosis - etiology; Anti-Inflammatory Agents, Non-Steroidal - therapeutic use; Bartter Syndrome - complications; Bartter Syndrome - diagnosis; Bartter Syndrome - drug therapy; Blood pressure; Chloride; Constipation; Europe (West); Failure to thrive; Failure to Thrive - etiology; Female; Humans; Hypokalemia; Hypokalemia - etiology; Indomethacin - therapeutic use; Infant; Laboratories; Laryngopharyngeal Reflux - etiology; Metabolism; Plasma; Polyuria; Polyuria - etiology; Potassium; Potassium Chloride - therapeutic use; Rare Disease; Salt; Sodium; White
• ISSN: 1757-790X; 1757-790X
• DOI: 10.1136/bcr.02.2012.5888

Bartter syndrome is a group of rare autosomal-recessive disorders caused by a defect in distal tubule transport of sodium and chloride. Blood gases and plasma electrolytes raise suspicion of this diagnosis and the definitive diagnosis is made by genetic study. Early treatment improves prognosis. The authors present the case of an 11-month-old child with early failure to thrive and severe regurgitation. Blood gases revealed hypochloraemic metabolic alkalosis, hyponatraemia and hypokalaemia. Blood pressure was normal and polyuria was documented. She began therapy with potassium chloride supplementation and indomethacin. There was clinical improvement and plasma potassium and bicarbonate normalised. The molecular study confirmed it was the classic form of Bartter syndrome. Despite being rare in clinical practice, which may lead to unnecessary medical investigation and diagnosis delay, in a child with failure to thrive, hypochloraemic metabolic alkalosis and hypokalaemia, this diagnosis must be considered.