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01-10-2019 | Metabolic Acidosis | Review Article

Distal renal tubular acidosis: genetic causes and management

Authors: Sílvia Bouissou Morais Soares, Luiz Alberto Wanderley de Menezes Silva, Flávia Cristina de Carvalho Mrad, Ana Cristina Simões e Silva

Published in: World Journal of Pediatrics | Issue 5/2019

Abstract

Background

Distal renal tubular acidosis (dRTA) is a kidney tubulopathy that causes a state of normal anion gap metabolic acidosis due to impairment of urine acidification. This review aims to summarize the etiology, pathophysiology, clinical findings, diagnosis and therapeutic approach of dRTA, with emphasis on genetic causes of dRTA.

Data sources

Literature reviews and original research articles from databases, including PubMed and Google Scholar. Manual searching was performed to identify additional studies about dRTA.

Results

dRTA is characterized as the dysfunction of the distal urinary acidification, leading to metabolic acidosis. In pediatric patients, the most frequent etiology of dRTA is the genetic alteration of genes responsible for the codification of distal tubule channels, whereas, in adult patients, dRTA is more commonly secondary to autoimmune diseases, use of medications and uropathies. Patients with dRTA exhibit failure to thrive and important laboratory alterations, which are used to define the diagnosis. The oral alkali and potassium supplementation can correct the biochemical defects, improve clinical manifestations and avoid nephrolithiasis and nephrocalcinosis.

Conclusions

dRTA is a multifactorial disease leading to several clinical manifestations. Clinical and laboratory alterations can be corrected by alkali replacement therapy.

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Title: Distal renal tubular acidosis: genetic causes and management
Authors: Sílvia Bouissou Morais Soares
Luiz Alberto Wanderley de Menezes Silva
Flávia Cristina de Carvalho Mrad
Ana Cristina Simões e Silva
Publication date: 01-10-2019
Publisher: Springer Singapore
Keywords: Metabolic Acidosis
Acidosis
Urolithiasis
Hypokalemia
Published in: World Journal of Pediatrics / Issue 5/2019
Print ISSN: 1708-8569
Electronic ISSN: 1867-0687
DOI: https://doi.org/10.1007/s12519-019-00260-4

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Distal renal tubular acidosis: genetic causes and management

Abstract

Background

Data sources

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Data sources

Results

Conclusions

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