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Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.
Pediatr Nephrol 2018; 33(9):1523-1529PN

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.

Authors+Show Affiliations

University of Oviedo, Oviedo, Spain.University of Oviedo, Oviedo, Spain. hgilpena@gmail.com. AGC de Pediatría, Hospital Universitario Central de Asturias, 33011, Oviedo, Spain. hgilpena@gmail.com. Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain. hgilpena@gmail.com.University of Oviedo, Oviedo, Spain. Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain. AGC Laboratorio - Genética, Hospital Universitario Central de Asturias, Oviedo, Spain.Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain. AGC Laboratorio - Genética, Hospital Universitario Central de Asturias, Oviedo, Spain.University of Oviedo, Oviedo, Spain. AGC de Pediatría, Hospital Universitario Central de Asturias, 33011, Oviedo, Spain. Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain.University of Oviedo, Oviedo, Spain.University of Oviedo, Oviedo, Spain. AGC de Pediatría, Hospital Universitario Central de Asturias, 33011, Oviedo, Spain. Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), Oviedo, Spain.No affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

29725771

Citation

Alonso-Varela, Marta, et al. "Distal Renal Tubular Acidosis. Clinical Manifestations in Patients With Different Underlying Gene Mutations." Pediatric Nephrology (Berlin, Germany), vol. 33, no. 9, 2018, pp. 1523-1529.
Alonso-Varela M, Gil-Peña H, Coto E, et al. Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. Pediatr Nephrol. 2018;33(9):1523-1529.
Alonso-Varela, M., Gil-Peña, H., Coto, E., Gómez, J., Rodríguez, J., Rodríguez-Rubio, E., & Santos, F. (2018). Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. Pediatric Nephrology (Berlin, Germany), 33(9), pp. 1523-1529. doi:10.1007/s00467-018-3965-8.
Alonso-Varela M, et al. Distal Renal Tubular Acidosis. Clinical Manifestations in Patients With Different Underlying Gene Mutations. Pediatr Nephrol. 2018;33(9):1523-1529. PubMed PMID: 29725771.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. AU - Alonso-Varela,Marta, AU - Gil-Peña,Helena, AU - Coto,Eliecer, AU - Gómez,Juan, AU - Rodríguez,Julián, AU - Rodríguez-Rubio,Enrique, AU - Santos,Fernando, AU - ,, Y1 - 2018/05/03/ PY - 2018/01/24/received PY - 2018/04/06/accepted PY - 2018/03/28/revised PY - 2018/5/5/pubmed PY - 2019/9/17/medline PY - 2018/5/5/entrez KW - ATP6V0A4 KW - ATP6V1B1 KW - Distal renal tubular acidosis KW - Genetic analysis KW - SLC4A1 SP - 1523 EP - 1529 JF - Pediatric nephrology (Berlin, Germany) JO - Pediatr. Nephrol. VL - 33 IS - 9 N2 - 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. SN - 1432-198X UR - https://www.unboundmedicine.com/medline/citation/29725771/Distal_renal_tubular_acidosis__Clinical_manifestations_in_patients_with_different_underlying_gene_mutations_ L2 - https://dx.doi.org/10.1007/s00467-018-3965-8 DB - PRIME DP - Unbound Medicine ER -