Timely diagnosis and treatment of infantile bartter syndrome: a case analysis

Abstract

Bartter syndrome is a rare hereditary renal tubulopathy that affects the reabsorption of sodium and chloride in the loop of Henle, leading to electrolyte imbalances and systemic complications. The objective of the study was to analyze a case of Bartter syndrome in pediatrics, highlighting the importance of early identification of tubulopathies to improve the prognosis and quality of life of affected patients. A descriptive analysis was performed on a pediatric patient diagnosed with Bartter syndrome, collecting clinical, biochemical, and therapeutic management data. The patient exhibited symptoms from the neonatal period, including polyhydramnios, premature birth, polyuria, polydipsia, and growth retardation, along with persistent electrolyte imbalances such as hyponatremia, hypokalemia, and hypochloremia. The diagnosis was confirmed through clinical and laboratory tests, and treatment was initiated with electrolyte supplementation and non-steroidal anti-inflammatory drugs, resulting in significant improvement in the patient's general condition and biochemical parameters. The conclusions emphasize that early identification of Bartter syndrome is crucial for initiating timely treatment that improves the prognosis and quality of life of patients. Additionally, in cases of premature births associated with polyhydramnios and electrolyte imbalances, Bartter syndrome should be considered as a differential diagnosis. Multidisciplinary management and continuous follow-up are essential to prevent long-term complications and promote adequate development in children affected by this disease.