Bartter syndrome: Case report

Abstract

Bartter's syndrome (BS) is a rare group of autosomal recessive diseases of the renal tubules, causing extensive salt elimination. It is classified into 5 types, based on genotype and phenotypic manifestations. A 24-year-old male patient reports growth failure, cramps, muscle weakness and leg pain since childhood with clinical worsening in recent years, making it impossible to walk. Laboratory tests: K 1.9 mmol/L; Mg 2.49 mg/dL; PTH 12.6 pg/mL; vitamin D 76.4 ng/mL; calcium 10.1mg/dL; renin 29.32 ng/mL/h; aldosterone 19.4 ng/dL. After the initiation of Aldactone 300mg/day, there was clinical and laboratory improvement. The patient was under outpatient follow-up. The diagnosis of BS is based on clinical findings, biochemical findings, and sonographic findings. Classical pharmacological therapy includes chloride supplementation, indomethacin protaglandin inhibitors, and aldosterone spironolactones antagonists. The in-depth understanding of the pathophysiology of these syndromes, facilitated by molecular diagnosis, highlights the importance of continuous study of these conditions for the development of more effective therapeutic strategies.

DOI:https://doi.org/10.56238/sevened2024.012-001