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Abstract: TH-PO1209

Distribution of Vitamin D-Binding Protein Phenotypes Among Pediatric Patients on Dialysis

Session Information

Category: Pediatric Nephrology

  • 1800 Pediatric Nephrology

Authors

  • Laster, Marciana, Indiana University Indianapolis, Indianapolis, Indiana, United States
  • Zhang, Shaobo, Indiana University Indianapolis, Indianapolis, Indiana, United States
  • Pereira, Renata C., University of California Los Angeles, Los Angeles, California, United States
  • Salusky, Isidro B., University of California Los Angeles, Los Angeles, California, United States
  • Hains, David S., Indiana University Indianapolis, Indianapolis, Indiana, United States
Background

Vitamin D Binding Protein polymorphisms influence vitamin D transport and bioavailability and may contribute to variability in mineral metabolism among children with chronic kidney disease (CKD). However, the distribution of VDBP phenotypes in pediatric dialysis populations has not been well characterized.

Methods

We conducted a single-center observational study of pediatric dialysis patients receiving care at a tertiary pediatric nephrology center. VDBP phenotypes were derived from rs7041 and rs4588 polymorphisms and categorized into six phenotypes: GC1F/1F, GC1F/2, GC1S/1F, GC1S/1S, GC1S/2, and GC2/2. Demographic and dialysis-related characteristics were summarized descriptively.

Results

Thirty-seven pediatric dialysis patients were included. The cohort was 62.2% male and 78.4% White, with 27.0% identifying as Hispanic ethnicity. Dialysis modality was evenly distributed between hemodialysis (48.7%) and peritoneal dialysis (51.4%). Non-glomerular kidney disease was the most common underlying diagnosis (59.5%).
VDBP phenotypes demonstrated substantial heterogeneity within the cohort. The most common phenotype was GC1S/1F, present in 40.5% of participants, followed by GC1S/2 (21.6%) and GC1F/2 (13.5%). Less common phenotypes included GC1S/1S (10.8%), GC2/2 (8.1%), and GC1F/1F (5.4%). Overall, 43.2% of participants demonstrated GC2-containing phenotypes.

Conclusion

VDBP phenotypes are heterogeneous among pediatric dialysis patients, with GC1S/1F representing the predominant phenotype and nearly half of the cohort demonstrating GC2-containing variants. These findings provide foundational data describing VDBP phenotype distribution in children receiving dialysis and support future studies evaluating the relationship between vitamin D pathway genetics and CKD-mineral and bone disorder outcomes in pediatric CKD.

Acknowledgment

K23-DK123378 (ML), R03DK143117 (ML)

Funding

  • NIDDK Support