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Evaluation of phenotypic and genotypic features of children with distal kidney tubular acidosis

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Abstract

Background

The present study aimed to assess genotype–phenotype correlations with long-term prognosis in children with distal kidney tubular acidosis (dKTA). The kidney function of children with dKTA could be impaired in the long-term.

Methods

Thirty-one children with dKTA from 23 families were included in the present study. Demographic features, growth parameters, clinical manifestations, follow-up results, and genetic analysis results of the patients were recorded.

Results

Eighteen children (58.1%) were male. The median age at diagnosis was 3 months. The median follow-up period was 77 months and the longest was 23.5 years. Eight (28.8%) patients had chronic kidney disease (CKD) stage 2 or 3. Three patients aged 24, 23, and 19 years had CKD stage 3 with an estimated glomerular filtration rate of 54, 57, and 48 mL/min/1.73 m2, respectively. Thirteen patients had mutations in the ATP6V0A4 gene, eight had mutations in the ATP6V1B1 gene, and three had mutations in the SLC4A1 gene. There was no significant correlation between molecular diagnosis and CKD. Growth retardation with a height below a standard deviation (SD) score of − 2 was found in 14 patients (45.1%) at the time of diagnosis. The mean height SD score at the last visit was significantly higher in patients who had adequate metabolic control at > 75% of all visits as compared with that in patients who did not.

Conclusion

Patients with dKTA usually have a good clinical prognosis in childhood with appropriate treatment; however, dRTA is characterized by deterioration of kidney function in adulthood, particularly after puberty.

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Authors and Affiliations

  1. Department of Pediatric Nephrology, Cukurova University Faculty of Medicine, Adana, Turkey

    Bahriye Atmis, Derya Cevizli, Engin Melek, Ali Anarat & Aysun K. Bayazit

  2. Department of Medical Genetics, Faculty of Medicine, Cukurova University, Adana, Turkey

    Atil Bisgin

  3. Cukurova University AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Adana, Turkey

    Atil Bisgin

  4. Department of Biostatistics, Cukurova University Faculty of Medicine, Adana, Turkey

    Ilker Unal

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  1. Bahriye Atmis
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  2. Derya Cevizli
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  3. Engin Melek
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Correspondence to Bahriye Atmis.

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The authors declare that they have no conflict of interest.

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All procedures involving human participants were performed in accordance with the ethical standards of the institutional and/or national research committee, in addition to the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards. The study was approved by the Ethical Committee of the University Medical Faculty (13.04.2018-76/6).

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Atmis, B., Cevizli, D., Melek, E. et al. Evaluation of phenotypic and genotypic features of children with distal kidney tubular acidosis. Pediatr Nephrol 35, 2297–2306 (2020). https://doi.org/10.1007/s00467-020-04685-2

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  • DOI: https://doi.org/10.1007/s00467-020-04685-2

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