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

Area of Science:

• Pediatric Nephrology
• Genetics
• Nutritional Science

Background:

• Urinary tract stone incidence is rising in infants (<1 year) in Turkey.
• Identifying risk factors and genetic predispositions is crucial for understanding pediatric urolithiasis.

Purpose of the Study:

• To investigate risk factors, including diet and vitamin D receptor (VDR) gene polymorphisms, associated with urinary tract stones in infants.
• To determine the prevalence of hypercalciuria in infants with stones.

Main Methods:

• A case-control study involving 40 infants with urinary tract stones and 80 controls (<1 year).
• Data collection included detailed surveys, metabolic parameter analysis, and VDR gene polymorphism (ApaI, FokI) investigation.

Main Results:

• Infants with stones were more likely to be fed formula and multivitamins (A, C, D) and had a higher incidence of positive family history.
• No significant differences in ApaI and FokI VDR gene polymorphisms were found between stone and control groups.
• However, the CA genotype of ApaI polymorphism was linked to family history, and the C allele of ApaI was associated with family history and hypercalciuria (38% prevalence).

Conclusions:

• Formula and multivitamin supplementation, especially for vitamin D, may increase urinary tract stone risk in infants.
• VDR gene polymorphisms can influence stone formation by affecting calcium metabolism and are linked to family history and hypercalciuria.