ArticleFrontiers in pediatrics2026
A newborn with type 1 Bartter syndrome: challenges in the treatment and development during 30 months follow-up-a case report.
Article in Frontiers in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Type I Bartter syndrome is a rare autosomal recessive tubulopathy resulting from mutations in the SLC12A1 gene, leading to defective sodium-chloride reabsorption in the thick ascending limb of the loop of Henle. Affected neonates typically present with profound fluid and electrolyte disturbances, polyuria, and metabolic derangements. Early diagnosis and individualized management are crucial to prevent life-threatening complications and support appropriate growth and development. We report the case of a male preterm infant born at 33 weeks' gestation following a pregnancy complicated by severe polyhydramnios requiring multiple amnioreductions. At 2 weeks of age, he was admitted with severe dehydration, acute kidney injury (creatinine 205 µmol/L; eGFR 8 mL/min/1.73m
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