Combination of furosemide and fludrocortisone as a loading test for diagnosis of distal renal tubular acidosis in a pediatric case.

Yuki Kyono, Kandai Nozu, Taku Nakagawa, Yuichi Takami, Hideki Fujita, Tomoaki Ioroi, Masaaki Kugo, Kazumoto Iijima, Naohiro Kamiyoshi

CEN case reports 2020 Feb

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Renal tubular acidosis (RTA) is a rare disease caused by a defect of urinary acidification. The ammonium chloride loading test is the gold standard method for determining the type of RTA. However, because this test has some side effects (e.g., nausea, vomiting, and stomach discomfort), applying this test for pediatric cases is difficult. Recently, a loading test with the combination of furosemide and fludrocortisone was reported to be an alternative to the ammonium chloride loading test, with 100% sensitivity and specificity in adult's cases. We report the first pediatric case of distal RTA in a patient who was successfully diagnosed by a drug loading test with the combination of furosemide and fludrocortisone without any side effects. We also performed genetic analysis and detected a known pathogenic variant in the SLC4A1 gene. The combination loading test of furosemide and fludrocortisone is a useful and safe diagnostic tool for pediatric cases of RTA.

Citation

Yuki Kyono, Kandai Nozu, Taku Nakagawa, Yuichi Takami, Hideki Fujita, Tomoaki Ioroi, Masaaki Kugo, Kazumoto Iijima, Naohiro Kamiyoshi. Combination of furosemide and fludrocortisone as a loading test for diagnosis of distal renal tubular acidosis in a pediatric case. CEN case reports. 2020 Feb;9(1):81-86