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Case Reports
. 2019 May 23;90(2):348-352.
doi: 10.23750/abm.v90i2.6886.

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

Laura Lucaccioni  1 , Elena Coccolini, Alessandra Dozza, Sante Lucio Cantatore, Alberto Berardi, Barbara Predieri, Lorenzo Iughetti
Affiliations
Case Reports

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

Laura Lucaccioni et al. Acta Biomed. .

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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Conflict of interest statement

Each author declares that he or she has no commercial associations (e.g. consultancies, stock ownership, equity interest, patent/licensing arrangement etc.) that might pose a conflict of interest in connection with the submitted article

Figures

Figure 1.
Figure 1.
Family tree. In green: newborns dead after a few days of life for unknown reasons. In light blue: a 16 years old boy dead for neoplasm. In dark blue: a brother with thyroglossal duct cyst. The remnants deaths in the family were in adulthood, for unknown reasons
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Comment in

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