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Etiologic risk factors and vitamin D receptor gene polymorphisms in under one-year-old infants with urolithiasis

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Abstract

The incidence of urinary tract stones in infancy has been increasing in Turkey. Risk factors and vitamin D receptor (VDR) gene polymorphisms were investigated in infants aged < 1 year who had stones. Forty infants with urinary tract stones and 80 infants without stones, aged < 1 year were enrolled in this study. Detailed surveys were taken of all infants, metabolic parameters and ApaI and FokI VDR gene polymorphisms were investigated. Infants with stones tended to be more commonly fed formula and multivitamins (vitamins A, C, D) (p < 0.05). Positive family history came into prominence in the stony group (p < 0.05). There were no significant differences in ApaI and FokI VDR gene polymorphisms between the groups with stones and the control groups. However, CA genotype of ApaI polymorphism was associated with family history and C allele of ApaI was related with family history and hypercalciuria (p < 0.05). Hypercalciuria emerged as an underlying metabolic abnormality in the etiology of stones, and was observed at a rate of 38%. Infants who are given formula and multivitamins for vitamin D supplementation are at increased risk for the formation of urinary tract stones. VDR gene polymorphisms cause the formation of urinary tract stones and affect calcium (Ca) metabolism.

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Abbreviations

Ca:

Calcium

Cr:

Creatinine

DNA:

Deoxyribonucleic acid

EDTA:

Ethylenediaminetetraacetic acid

IH:

Hypercalciuria

IU:

Infantile urolithiasis

Mg:

Magnesium

P:

Phosphorus

PCR:

Polymerase chain reaction

PTH:

Parathyroid hormone

ALP:

Alkaline phosphates

SPSS:

Statistical Package for Social Sciences

US:

Ultrasonography

UTI:

Urinary tract infection

UTSD:

Urinary tract stone disease

VDR:

Vitamin D receptor

25(OH)D:

25-Hydroxy vitamin D

HC03:

Sodium bicarbonate

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Author information

Authors and Affiliations

  1. Department of Pediatrics, Celal Bayar University, Manisa, Turkey

    Ezgi Yangın Ergon

  2. Department of Pediatric Nephrology, Celal Bayar University, Manisa, Turkey

    İpek Ozunan Akil

  3. Department of Medical Chemistry, Celal Bayar University, Manisa, Turkey

    Fatma Taneli & Arzu Oran

  4. Department of Public Health, Celal Bayar University, Manisa, Turkey

    Beyhan Cengız Ozyurt

Authors
  1. Ezgi Yangın Ergon
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  2. İpek Ozunan Akil
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  3. Fatma Taneli
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  5. Beyhan Cengız Ozyurt
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Correspondence to Ezgi Yangın Ergon.

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Funding

This study was not funded by any institution.

Conflict of interest

Ezgi Yangın Ergon declares that she has no conflict of interest; İpek Ozunan Akil declares that she has no conflict of interest; Fatma Taneli declares that she has no conflict of interest; Arzu Oran declares that she has no conflict of interest; Beyhan Cengiz Ozyurt declares that she has no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent was obtained from all individual participants included in the study.

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Ergon, E.Y., Akil, İ.O., Taneli, F. et al. Etiologic risk factors and vitamin D receptor gene polymorphisms in under one-year-old infants with urolithiasis. Urolithiasis 46, 349–356 (2018). https://doi.org/10.1007/s00240-017-1009-7

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  • DOI: https://doi.org/10.1007/s00240-017-1009-7

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