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

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.

Vitamin D receptor gene polymorphisms and susceptibility to urolithiasis: a meta-regression and meta-analysis

“…Twenty studies, including 3114 urolithiasis patients and 3174 controls, evaluated the FokI polymorphism. Of which, 14 studies were conducted in Asian countries [ 26 , 28 , 34 , 35 , 37 , 40 – 42 , 44 , 50 , 60 – 63 ] and 6 studies were in European countries [ 31 – 33 , 48 , 64 , 65 ]. Overall, no significant association was detected between FokI SNP and urolithiasis risk under all five genetic models.…”

“…A total of 16 publications containing 2950 cases and 3065 controls were recognized eligible for evaluating the association between ApaI SNP and urolithiasis risk. Of which, eight studies were performed in Asians [ 27 , 28 , 40 , 44 , 61 , 66 , 68 ] and eight studies were in Europeans [ 29 , 33 , 36 , 38 , 41 , 45 , 46 , 48 , 64 ]. The pooled results revealed a marginal significant association between ApaI SNP and urolithiasis risk under recessive model (OR = 1.14, 95% CI = 1.01–1.29, p = 0.03), allelic model (OR = 1.09, 95% CI = 1–1.18, P = 0.05), and aa vs. AA model (OR = 1.21, 95% CI = 1–1.47, P = 0.05).…”

An Infant with Idiopathic Hypercalciuria and Nephrolithiasis Associated with CYP24A1 Enzyme Polymorphism: a Case Report

“…Vitamin D is given to all infants prophylactically (400 IU), regardless of the climate, living region, infant's diet, or family history. However, the needs differ among individuals, so each child should be evaluated and given individualized prophylactic dose of vitamin D. In children with hypercalciuria and/or nephrolithiasis, vitamin D supplementation should be avoided, and in patients with underlying CYP24A1 mutations, increased vitamin D intake can trigger the onset of symptoms 5,9,10 .…”

Relationship Between the ApaI (rs7975232), BsmI (rs1544410), FokI (rs2228570), and TaqI (rs731236) Variants in the Vitamin D Receptor Gene and Urolithiasis Susceptibility: An Updated Meta-Analysis and Trial Sequential Analysis

“…VDR is a pronuclear protein and belongs to a member of a superfamily that is composed of steroid hormone/thyroid hormone receptors (Ergon et al, 2017). Additionally, it is a nuclear macromolecule that mediates the biological effects of 1,25-(OH) D, which is a type of activated vitamin D substance (Shamran et al, 2017).…”

“…As we all know, 1,25-(OH) D has a variety of biological functions in our body, such as regulating immune response, controlling cell proliferation and differentiation, and maintaining a mineral balance (Ruggiero et al, 1999). The most important function of 1,25-(OH) D is adjusting the metabolism of phosphorus and calcium in kidney, intestine, and bone, and it is mainly mediated by VDR (Ergon et al, 2017;Shamran et al, 2017). In urolithiasis, oxalate, phosphate, and calcium salt are the main components of urinary stones, and 85% are from calcium oxalate (Jurutka et al, 2000).…”