Severe metabolic alkalosis due to diuretic treatment in a patient with distal renal tubular acidosis: a rare association

Severe metabolic alkalosis due to diuretic treatment in a patient with distal renal tubular acidosis: a rare association

Authors

  • Laura Lucaccioni University of Modena and Reggio Emilia
  • Elena Coccolini Pediatric Unit, Department Post-graduate School of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy
  • Alessandra Dozza Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy
  • Sante Lucio Cantatore Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy
  • Alberto Berardi Neonatal Intensive Care Unit, Department of Clinical and Surgical Sciences of the Mother, Children and Adult, University of Modena and Reggio Emilia, Modena, Italy
  • Barbara Predieri Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy
  • Lorenzo Iughetti Pediatric Unit, Department Post-graduate School of Pediatrics, University of Modena and Reggio Emilia, Modena, Italy

Keywords:

distal renal tubular acidosis, metabolic alkalosis, hydrochlorothiazide

Abstract

Introduction: Distal renal tubular acidosis is a rare genetic disease, characterised by deficit in renal tubular transport. Clinical features are metabolic acidosis with hypercloraemia and hypokalemia, and inability in urine acidification. Hypercalciuria may also be present, often treated with the use of a diuretic therapy with thiazides. Case Presentation: We present a severe disease onset in a neonate with consanguineous parents, both autosomal-recessive for an ATP6VOA4 gene mutation, and a nevertheless severe episode of metabolic alkalosis, occurred in the same patient after few months, during the diuretic therapy. Conclusion: Biochemical results lead us to hypothesize a susceptibility to the treatment that need further investigations.

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Published

23-05-2019

Issue

Section

CASE REPORTS

How to Cite

1.
Lucaccioni L, Coccolini E, Dozza A, Cantatore SL, Berardi A, Predieri B, et al. Severe metabolic alkalosis due to diuretic treatment in a patient with distal renal tubular acidosis: a rare association. Acta Biomed [Internet]. 2019 May 23 [cited 2024 Jul. 19];90(2):348-52. Available from: https://www.mattioli1885journals.com/index.php/actabiomedica/article/view/6886