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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 KamiyoshiEmail author
Case Report
  • 6 Downloads

Abstract

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.

Keywords

Furosemide Fludrocortisone Loading test SLC4A1 Autosomal dominant distal renal tubular acidosis Rickets Short stature 

Notes

Acknowledgements

We thank Ellen Knapp, PhD, from Edanz Group (https://www.edanzeditingcom/ac) for editing a draft of this manuscript.

Compliance with ethical standards

Conflict of interest

The authors have declared that no conflict of interest exists.

Human and animal rights

This article does not contain any studies with human participants or animals performed by any of the authors.

Informed consent

Informed consent was obtained from participant’s parents included in the study.

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Copyright information

© Japanese Society of Nephrology 2019

Authors and Affiliations

  • Yuki Kyono
    • 1
    • 2
  • Kandai Nozu
    • 1
  • Taku Nakagawa
    • 2
  • Yuichi Takami
    • 2
  • Hideki Fujita
    • 2
  • Tomoaki Ioroi
    • 2
  • Masaaki Kugo
    • 2
  • Kazumoto Iijima
    • 1
  • Naohiro Kamiyoshi
    • 2
    Email author
  1. 1.Department of PediatricsKobe University Graduate School of MedicineKobeJapan
  2. 2.Department of PediatricsJapanese Red Cross Society Himeji HospitalHimejiJapan

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