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03.05.2018 | Original Article

Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations

verfasst von: Marta Alonso-Varela, Helena Gil-Peña, Eliecer Coto, Juan Gómez, Julián Rodríguez, Enrique Rodríguez-Rubio, Fernando Santos, RenalTube Group

Erschienen in: Pediatric Nephrology | Ausgabe 9/2018

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Abstract

Background

To evaluate whether there are differences in the phenotype of primary distal renal tubular acidosis (dRTA) patients according to the causal defective gene.

Methods

Twenty-seven non-oriental patients with genetically confirmed dRTA were grouped according to the identified underlying mutations in either ATP6V1B1 (n = 10), ATP6V0A4 (n = 12), or SLC4A1 (n = 5) gene. Demographic features, growth impairment, biochemical variables and presence of deafness, nephrocalcinosis, and urolithiasis at diagnosis were compared among the three groups.

Results

Patients with SLC4A1 mutations presented later than those with ATP6V1B1 or ATP6V0A4 defects (120 vs. 7 and 3 months, respectively). Hearing loss at diagnosis was present in the majority of patients with ATP6V1B1 mutations, in two patients with ATP6V0A4 mutations, and in none of cases harboring SLC4A1 mutations. Serum potassium concentration (X ± SD) was higher in SLC4A1 group (3.66 ± 0.44 mEq/L) than in ATP6V0A4 group (2.96 ± 0.63 mEq/L) (p = 0.046). There were no differences in the other clinical or biochemical variables analyzed in the three groups.

Conclusions

This study indicates that non-oriental patients with dRTA caused by mutations in the SLC4A1 gene present later and have normokalemia or milder hypokalemia. Hypoacusia at diagnosis is characteristically associated with ATP6V1B1 gene mutations although it may also be present in infants with ATP6V0A4 defects. Other phenotypical manifestations do not allow predicting the involved gene.

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Titel: Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations
verfasst von: Marta Alonso-Varela
Helena Gil-Peña
Eliecer Coto
Juan Gómez
Julián Rodríguez
Enrique Rodríguez-Rubio
Fernando Santos
RenalTube Group
Publikationsdatum: 03.05.2018
Verlag: Springer Berlin Heidelberg
Erschienen in: Pediatric Nephrology / Ausgabe 9/2018
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-018-3965-8

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Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations

Abstract

Background

Methods

Results

Conclusions

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Background

Methods

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