The Journal of Urology
Volume 179, Issue 5 , Pages 1676-1682 , May 2008

Update on Primary Hypercalciuria From a Genetic Perspective

  • Giuseppe Vezzoli

      Affiliations

    • Nephrology Unit, San Raffaele Scientific Institute, University of Milan, Milan, Italy
    • Corresponding Author InformationCorrespondence: Unità di Nefrologia e Dialisi, Istituto Scientifico Universitario San Raffaele, Via Olgettina 60, 20132 Milano, Italy (telephone: +39 02 26433892; FAX: +39 02 26432384).
    • ,
  • Laura Soldati

      Affiliations

    • Nephrology Section, Department of Sciences and Biomedical Technologies, University of Milan, Milan, Italy
    • ,
  • Giovanni Gambaro

      Affiliations

    • Nephrology Division, Department of Biomedical and Surgical Sciences, University of Verona, Verona, Italy

Received 13 June 2007

References 

  1. Hodkinson A, Pyrah LN. The urinary excretion of calcium and inorganic phosphate in 344 patients with calcium stones of renal origin. Br J Surg. 1958;46:10
  2. Vezzoli G, Soldati L, Arcidiacono T, Terranegra A, Biasion R, Russo CR, et al. Urinary calcium is a determinant of bone mineral density in elderly men participating in the InCHIANTI study. Kidney Int. 2005;67:2006
  3. Giannini S, Nobile M, Delle Carbonare L, Lodetti MG, Sella S, Vittadello G, et al. Hypercalciuria is a common and important finding in postmenopausal women with osteoporosis. Eur J Endocrinol. 2003;149:209
  4. Stapleton FB, Roy S, Noe HN, Jerkins G. Hypercalciuria in children with hematuria. N Engl J Med. 1984;310:1345
  5. Pace G, Aceto G, Cormio L, Traficante A, Tempesta A, Lospalluti ML, et al. Nocturnal enuresis can be caused by absorptive hypercalciuria. Scand J Urol Nephrol. 1999;33:111
  6. Pak CY, Ohata M, Lawrence EC, Snyder W. The hypercalciurias (Causes, parathyroid functions, and diagnostic criteria). J Clin Invest. 1974;54:387
  7. Liberman UA, Sperling O, Atsmon A, Frank M, Modan M, Vries AD. Metabolic and calcium kinetic studies in idiopathic hypercalciuria. J Clin Invest. 1968;47:2580
  8. Vezzoli G, Rubinacci A, Bianchin C, Arcidiacono T, Giambona S, Mignogna G, et al. Intestinal calcium absorption is associated with bone mass in stone-forming women with idiopathic hypercalciuria. Am J Kidney Dis. 2003;42:1177
  9. Butani L, Kalia A. Idiopathic hypercalciuria in children—how valid are the existing diagnostic criteria?. Pediatr Nephrol. 2004;19:577
  10. Coe FL, Parks JH, Moore ES. Familial idiopathic hypercalciuria. N Engl J Med. 1979;300:337
  11. Pak CY, McGuire J, Peterson R, Britton F, Harrod MJ. Familial absorptive hypercalciuria in a large kindred. J Urol. 1981;126:717
  12. Nicolaidou P, Themeli S, Karpathios T, Georgouli H, Athanassaki K, Xaidara A, et al. Family pattern of idiopathic hypercalciuria and its subtypes. J Urol. 1996;155:1042
  13. Lerolle N, Coulet F, Lantz B, Paillard F, Houillier P, Soubrier F, et al. No evidence for point mutations of the calcium-sensing receptor in familial idiopathic hypercalciuria. Nephrol Dial Transplant. 2001;16:2317
  14. Harangi F, Mehes K. Family investigations in idiopathic hypercalciuria. Eur J Pediatr. 1993;152:64
  15. Colhoun HM, McKeigue PM, Davey Smith G. Problems of reporting genetic association with complex outcomes. Lancet. 2003;361:865
  16. Muller D, Hoenderop JG, Vennekens R, Eggert P, Harangi F, Mehes K, et al. Epithelial Ca(2+) channel (ECAC1) in autosomal dominant idiopathic hypercalciuria. Nephrol Dial Transplant. 2002;17:1614
  17. Bianchi G, Vezzoli G, Cusi D, Cova T, Elli A, Soldati L, et al. Abnormal red-cell calcium pump in patients with idiopathic hypercalciuria. N Eng J Med. 1988;319:897
  18. Loredo-Osti JC, Roslin NM, Tessier J, Fujiwara TM, Morgan K, Bonnardeaux A. Segregation of urine calcium excretion in families ascertained for nephrolithiasis: evidence for a major gene. Kidney Int. 2005;68:966
  19. Hunter D, De Lange M, Snieder H, MacGregor AJ, Swaminathan R, Thakker RV, et al. Genetic contribution to bone metabolism, calcium excretion, and vitamin D and parathyroid hormone regulation. J Bone Miner Res. 2001;16:371
  20. Reed BY, Heller HJ, Gitomer WL, Pak CY. Mapping a gene defect in absorptive hypercalciuria to chromososme 1q23.3-q24. J Clin Endocrinol Metab. 1999;84:3907
  21. Reed BY, Gitomer WL, Heller HJ, Hsu MC, Lemke M, Padalino P, et al. Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spine bone density. J Clin Endocrinol Metab. 2002;87:1476
  22. Geng W, Wang Z, Zhang J, Reed BY, Pak CY, Moe OW. Cloning and characterization of the human soluble adenylyl cyclase. Am J Physiol Cell Physiol. 2005;288:C1305
  23. Scott P, Ouimet D, Valiquette L, Guay G, Proulx Y, Trouve ML, et al. Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation. J Am Soc Nephrol. 1999;10:1007
  24. Khullar M, Relan V, Singh SK. VDR gene and urinary calcium excretion in nephrolithiasis. Kidney Int. 2006;69:943
  25. Soylemezoglu O, Ozkaya O, Gonen S, Misirlioglu M, Kalman S, Buyan N. Vitamin D receptor gene polymorphism in hypercalciuric children. Pediatr Nephrol. 2004;19:724
  26. Rendina D, Mossetti G, Viceconti R, Sorrentino M, Castaldo R, Manno G, et al. Association between vitamin D receptor gene polymorphisms and fasting idiopathic hypercalciuria in recurrent stone-forming patients. Urology. 2004;64:833
  27. Relan V, Khullar M, Singh SK, Sharma SK. Association of vitamin D receptor genotypes with calcium excretion in nephrolithiatic subjects in northern India. Urol Res. 2004;32:236
  28. Zerwekh JE, Hughes MR, Reed BY, Breslau NA, Heller HJ, Lemke M, et al. Evidence for normal vitamin D receptor messenger ribonucleic acid and genotype in absorptive hypercalciuria. J Clin Endocrinol Metab. 1995;80:2960
  29. Tfelt-Hansen J, Brown EM. The calcium-sensing receptor in normal physiology and pathophysiology: a review. Crit Rev Clin Lab Sci. 2004;42:35
  30. Petrucci M, Scott P, Ouimet D, Trouve ML, Proulx Y, Valiquette L, et al. Evaluation of the calcium-sensing receptor gene in idiopathic hypercalciuria and calcium nephrolithiasis. Kidney Int. 2000;58:38
  31. Vezzoli G, Tanini A, Ferrucci L, Soldati L, Bianchin C, Franceschelli F, et al. Influence of calcium-sensing receptor gene on urinary calcium excretion in stone-forming patients. J Am Soc Nephrol. 2002;13:2517
  32. Vezzoli G, Terranegra A, Arcidiacono T, Biasion R, Coviello D, Syren ML, et al. R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria. Kidney Int. 2007;71:1155
  33. Corbetta S, Eller-Vainicher C, Filopanti M, Saeli P, Vezzoli G, Arcidiacono T, et al. The A990G polymorphism of calcium sensing receptor gene (CaSR) is associated with nephrolithiasis in patients with primary hyperparathyroidism. Eur J Endocrinol. 2006;155:687
  34. Hou J, Paul DL, Goodenough DA. Paracellin-1 and the modulation of ion selectivity of tight junctions. J Cell Sci. 2005;118:5109
  35. Weber S, Schneider L, Peters M, Misselwitz J, Ronnefarth G, Boswald M, et al. Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J Am Soc Nephrol. 2001;12:1872
  36. Christensen EI, Devuyst O, Dom G, Nielsen R, Van der Smissen P, Verroust P, et al. Loss of chloride channel ClC-5 impairs endocytosis by defective trafficking of megalin and cubilin in kidney proximal tubules. Proc Natl Acad Sci U S A. 2003;100:8472
  37. Scheinman SJ, Cox JP, Lloyd SE, Pearce SH, Salenger PV, Hoopes RR, et al. Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuria. Kidney Int. 2000;57:232
  38. Prie D, Huart V, Bakouh N, Planelles G, Dellis O, Gerard B, et al. Nephrolithiasis and osteoporosis caused by mutations in the type 2a sodium-phosphate cotransporter. N Engl J Med. 2002;347:983
  39. Lapointe JY, Tessier J, Paquette Y, Wallendorff B, Coady MJ, Pichette V, et al. NPT2 gene variation in calcium nephrolithiasis with renal phosphate leak. Kidney Int. 2006;69:2261
  40. Jiang Y, Ferguson WB, Peng JB. WNK4 enhances TRPV5-mediated calcium transport: potential role in hypercalciuria of familial hyperkalemic hypertension caused by gene mutation of WNK4. Am J Physiol Renal Physiol. 2007;292:F545
  41. Mossetti G, Vuotto P, Rendina D, Numis FG, Viceconti R, Giordano F, et al. Association between vitamin D receptor gene polymorphisms and tubular citrate handling in calcium nephrolithiasis. J Intern Med. 2003;253:194
  42. Bushinsky DA. Genetic hypercalciuric stone-forming rats. Curr Opin Nephrol Hypertens. 1999;8:479
  43. Morrison N, Qi JC, Tokita A, Kelly PJ, Crofts L, Nguyen TV, et al. Prediction of bone density from vitamin D receptor alleles. Nature. 1994;367:284
  44. Dawson-Hughes B, Harris SS, Finneran S. Calcium absorption on high and low calcium intakes in relation to vitamin D receptor genotype. J Clin Endocrinol Metab. 1995;80:3657
  45. Gennari L, Becherini L, Mansani R, Masi L, Falchetti A, Morelli A, et al. FokI polymorphism at translation initiation site of the vitamin D receptor gene predicts bone mineral density and vertebral fractures in postmenopausal Italian women. J Bone Miner Res. 1999;14:1379
  46. Uitterlinden AG, Ralston SH, Brandi ML, Carey AH, Grinberg D, Langdahl BL, et al. The association between common vitamin D receptor gene variations and osteoporosis: a participant-level meta-analysis. Ann Intern Med. 2007;145:255
  47. Terranegra A, Arcidiacono T, Biasion R, Paloschi V, Borghi L, Brandi ML, et al. Calcium-sensing receptor (CaSR), a candidate gene for calcium kidney stone disease. Nephrol Dial Transplant. 2006;21(suppl):292
  48. Bushinsky DA. Nephrolithiasis: site of the initial solid phase. J Clin Invest. 2003;111:602
  49. Evans AP, Lingeman JE, Coe FL, Parks JH, Bledsoe SB, Shao Y, et al. Randall’s plaque of patients with nephrolithiasis begins in basement membranes of thin loops of Henle. J Clin Invest. 2003;111:607
  50. Mentaverri R, Yano S, Chattopadhyay N, Petit L, Kifor O, Kamel S, et al. The calcium sensing receptor is directly involved in both osteoclast differentiation and apoptosis. FASEB J. 2006;20:2562

 Editor’s Note: This article is the first of 5 published in this issue for which category 1 CME credits can be earned. Instructions for obtaining credits are given with the questions on pages 2070 and 2071.

PII: S0022-5347(08)00014-1

doi: 10.1016/j.juro.2008.01.011

The Journal of Urology
Volume 179, Issue 5 , Pages 1676-1682 , May 2008

Article Tools

* Image Usage & Resolution