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Article

Contradiction between genetic analysis and diuretic loading test in type I Bartter syndrome: a case report.

BMC nephrology - 30 Aug 2021

Kuroda Jumpei, Harada Ryoko, Hamada Riku, Okuda Yusuke, Yoshida Yasuhiro, Hataya Hiroshi, Nozu Kandai, Iijima Kazumoto, Honda Masataka, Ishikura Kenji

Abstract excerpt

BACKGROUND: In typical cases of Bartter syndrome (BS), assessing response to diuretics (furosemide and thiazide), hereinafter referred to as diuretic loading test, may be used to diagnose the type by detecting which part of the kidney tubule is not functioning correctly. However, the diuretic loading test may not always agree with the results of genetic analyses. CASE PRESENTATION: A 5-year-old boy was admitted...

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Identifiers

PMID: 34461850
DOI: 10.1186/s12882-021-02497-6
PMCID: PMC8404274

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