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.
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Copyright (c) 2024 Nathalie Borges Costa , Sumaya Vieira Canedo Prudente, Vanessa Teodoro Laureano Cândido, Luís Otávio Torres, Daiany Caixeta Campos, Thalyson Cabral Araujo Paulista, Cibelle Camilo Barbosa Jardim, Afonso Lucas Oliveira NascimentoAuthor(s)
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Nathalie Borges Costa
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Sumaya Vieira Canedo Prudente
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Vanessa Teodoro Laureano Cândido
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Luís Otávio Torres
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Daiany Caixeta Campos
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Thalyson Cabral Araujo Paulista
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Cibelle Camilo Barbosa Jardim
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Afonso Lucas Oliveira Nascimento