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The relationship of 3' vitamin D receptor haplotypes to urinary supersaturation of calcium oxalate salts and to age at onset and familial prevalence of nephrolithiasis.
Nephrol Dial Transplant 2004; 19(9):2259-65ND

Abstract

BACKGROUND

Idiopathic hypercalciuria (IHc) and idiopathic hypocitraturia are frequently associated with calcium nephrolithiasis. We investigated the relationship of vitamin D receptor (VDR) polymorphisms (BsmI, TaqI and FokI) to urinary supersaturation of calcium oxalate salts in recurrent calcium oxalate stone formers with IHc and the clinical relevance of this relationship.

METHODS

The study included 110 Caucasian stone formers with IHc and 127 unrelated healthy controls without history of nephrolithiasis. Age at onset of nephrolithiasis, familial history score (FHS) and the ion activity product of calcium oxalate salts in urine (AP(CaOx)) were tabulated. BsmI, TaqI and FokI VDR polymorphisms were evaluated in all participants.

RESULTS

Patients and controls were classified as homozygous (bbTT and BBtt) or heterozygous in relation to BsmI and TaqI polymorphisms. Compared with BBtt patients, bbTT homozygous stone formers showed lower citrate excretion (1.91+/-0.89 vs 3.46+/-1.39 mmol/24 h, P = 0.004) and higher AP(CaOx) (2.02+/-0.51 vs 1.53+/-0.53, P = 0.006). Among controls, there were similar differences in citrate excretion and AP(CaOx) between the two groups, but they were not statistically significant. Compared with BBtt, bbTT patients showed lower mean age at onset of nephrolithiasis (29.7+/-12.1 vs 38.1+/-12.7 years, P = 0.008) and higher values of FHS (2.45+/-1.9 vs 0.83+/-0.7, P = 0.006). Similar results were obtained for individual BsmI and TaqI alleles. The analysis of FokI alleles was not informative.

CONCLUSIONS

Recurrent calcium oxalate stone formers with IHc and the bT VDR haplotype have more aggressive kidney stone diseases as indicated by a higher familial incidence and lower mean age at onset. This clinical severity is associated with the higher urinary supersaturation of calcium oxalate salts and abnormalities of renal citrate handling.

Authors+Show Affiliations

Dipartimento di Medicina Clinica e Sperimentale, Università Federico II, via S. Pansini 5, 80131 Naples, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

15213319

Citation

Mossetti, Giuseppe, et al. "The Relationship of 3' Vitamin D Receptor Haplotypes to Urinary Supersaturation of Calcium Oxalate Salts and to Age at Onset and Familial Prevalence of Nephrolithiasis." Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, vol. 19, no. 9, 2004, pp. 2259-65.
Mossetti G, Rendina D, Viceconti R, et al. The relationship of 3' vitamin D receptor haplotypes to urinary supersaturation of calcium oxalate salts and to age at onset and familial prevalence of nephrolithiasis. Nephrol Dial Transplant. 2004;19(9):2259-65.
Mossetti, G., Rendina, D., Viceconti, R., Manno, G., Guadagno, V., Strazzullo, P., & Nunziata, V. (2004). The relationship of 3' vitamin D receptor haplotypes to urinary supersaturation of calcium oxalate salts and to age at onset and familial prevalence of nephrolithiasis. Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 19(9), pp. 2259-65.
Mossetti G, et al. The Relationship of 3' Vitamin D Receptor Haplotypes to Urinary Supersaturation of Calcium Oxalate Salts and to Age at Onset and Familial Prevalence of Nephrolithiasis. Nephrol Dial Transplant. 2004;19(9):2259-65. PubMed PMID: 15213319.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The relationship of 3' vitamin D receptor haplotypes to urinary supersaturation of calcium oxalate salts and to age at onset and familial prevalence of nephrolithiasis. AU - Mossetti,Giuseppe, AU - Rendina,Domenico, AU - Viceconti,Roberto, AU - Manno,Giuseppe, AU - Guadagno,Vincenzo, AU - Strazzullo,Pasquale, AU - Nunziata,Vincenzo, Y1 - 2004/06/22/ PY - 2004/6/24/pubmed PY - 2004/12/31/medline PY - 2004/6/24/entrez SP - 2259 EP - 65 JF - Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association JO - Nephrol. Dial. Transplant. VL - 19 IS - 9 N2 - BACKGROUND: Idiopathic hypercalciuria (IHc) and idiopathic hypocitraturia are frequently associated with calcium nephrolithiasis. We investigated the relationship of vitamin D receptor (VDR) polymorphisms (BsmI, TaqI and FokI) to urinary supersaturation of calcium oxalate salts in recurrent calcium oxalate stone formers with IHc and the clinical relevance of this relationship. METHODS: The study included 110 Caucasian stone formers with IHc and 127 unrelated healthy controls without history of nephrolithiasis. Age at onset of nephrolithiasis, familial history score (FHS) and the ion activity product of calcium oxalate salts in urine (AP(CaOx)) were tabulated. BsmI, TaqI and FokI VDR polymorphisms were evaluated in all participants. RESULTS: Patients and controls were classified as homozygous (bbTT and BBtt) or heterozygous in relation to BsmI and TaqI polymorphisms. Compared with BBtt patients, bbTT homozygous stone formers showed lower citrate excretion (1.91+/-0.89 vs 3.46+/-1.39 mmol/24 h, P = 0.004) and higher AP(CaOx) (2.02+/-0.51 vs 1.53+/-0.53, P = 0.006). Among controls, there were similar differences in citrate excretion and AP(CaOx) between the two groups, but they were not statistically significant. Compared with BBtt, bbTT patients showed lower mean age at onset of nephrolithiasis (29.7+/-12.1 vs 38.1+/-12.7 years, P = 0.008) and higher values of FHS (2.45+/-1.9 vs 0.83+/-0.7, P = 0.006). Similar results were obtained for individual BsmI and TaqI alleles. The analysis of FokI alleles was not informative. CONCLUSIONS: Recurrent calcium oxalate stone formers with IHc and the bT VDR haplotype have more aggressive kidney stone diseases as indicated by a higher familial incidence and lower mean age at onset. This clinical severity is associated with the higher urinary supersaturation of calcium oxalate salts and abnormalities of renal citrate handling. SN - 0931-0509 UR - https://www.unboundmedicine.com/medline/citation/15213319/The_relationship_of_3'_vitamin_D_receptor_haplotypes_to_urinary_supersaturation_of_calcium_oxalate_salts_and_to_age_at_onset_and_familial_prevalence_of_nephrolithiasis_ L2 - https://academic.oup.com/ndt/article-lookup/doi/10.1093/ndt/gfh273 DB - PRIME DP - Unbound Medicine ER -