Combination of furosemide and fludrocortisone as a loading test for diagnosis of distal renal tubular acidosis in a pediatric case
- 6 Downloads
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.
KeywordsFurosemide Fludrocortisone Loading test SLC4A1 Autosomal dominant distal renal tubular acidosis Rickets Short stature
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 was obtained from participant’s parents included in the study.
- 12.Ito N, Ihara K, Kamoda T, Akamine S, Kamezaki K, Tsuru N, et al. Autosomal dominant distal renal tubular acidosis caused by a mutation in the anion exchanger 1 gene in a Japanese family. CEN Case Rep. 2015;4(2):218–22. https://doi.org/10.1007/s13730-015-0172-3.CrossRefPubMedPubMedCentralGoogle Scholar
- 13.Alonso-Varela M, Gil-Pena H, Coto E, Gomez J, Rodriguez J, Rodriguez-Rubio E, et al. Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. Pediatr Nephrol. 2018;33(9):1523–9. https://doi.org/10.1007/s00467-018-3965-8.CrossRefPubMedGoogle Scholar
- 15.Shavit L, Chen L, Ahmed F, et al. Selective screening for distal renal tubular acidosis in recurrent kidney stone formers: initial experience and comparison of the simultaneous furosemide and fludrocortisone test with the short ammonium chloride test. Nephrol Dial Transpl. 2016;31(11):1870–6.CrossRefGoogle Scholar