Article

Bartter Syndrome Type 2 in Adolescence: Clinical Features and Genetic Confirmation

2024-09-03

Abstract excerpt

<title>Abstract</title> <p>Background Bartter Syndrome (BS) is a rare salt-losing tubulopathy characterized by impaired sodium reabsorption and excessive salt excretion. Type II Bartter Syndrome, usually presenting in the neonatal period, is associated with mutations in the KCNJ1 gene. Reporting this case adds to the limited data on late-onset presentations of BS type 2, highlighting its clinical variability. Ca...

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Literature Corpus work: e64b2245-d015-57ff-93cc-e0342c75aa12
DOI: 10.21203/rs.3.rs-4823180/v1

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