The genetics of nephrolithiasis

Nephron - Experimental Nephrology

Volumn 110, Issue 2, 2008, Pages

  Sayer, John A ^a,b  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b INSTITUTE OF HUMAN GENETICS   (United Kingdom)

Author keywords

Citrate; Genetics; Hypercalciuria; Kidney stones; Mouse models; Urate

Indexed keywords

CALCIUM SENSING RECEPTOR; CLAUDIN 16; PYROPHOSPHATE; TAMM HORSFALL GLYCOPROTEIN; VANILLOID RECEPTOR 5; VITAMIN D RECEPTOR;

CYSTINURIA; DNA POLYMORPHISM; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERCALCIURIA; HYPEROXALURIA; HYPERURICOSURIA; NEPHROLITHIASIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEFECT; RISK FACTOR; SHORT SURVEY; STONE FORMATION;

ANIMALS; DISEASE MODELS, ANIMAL; HUMANS; HYPERCALCIURIA; NEPHROLITHIASIS;

EID: 50349091270     PISSN: 16602129     EISSN: None     Source Type: Journal    
DOI: 10.1159/000151730     Document Type: Short Survey

References (27)

1. Stamatelou KK, Francis ME, Jones CA, Nyberg LM, Curhan GC: Time trends in reported prevalence of kidney stones in the united states:1976-1994. Kidney Int 2003;63:1817-1823.
2. Indridason OS, Birgisson S, Edvardsson VO, Sigvaldason H, Sigfusson N, Palsson R: Epidemiology of kidney stones in Iceland: a population-based study. Scand J Urol Nephrol 2006;40:215-220.
3. West B, Luke A, Durazo-Arvizu RA, Cao G, Shoham D, Kramer H: Metabolic syndrome and self-reported history of kidney stones: the National Health and Nutrition Examination Survey (NHANES III) 1988-1994. Am J Kidney Dis 2008;51:741-747.
4. Taylor EN, Curhan GC: Fructose consumption and the risk of kidney stones. Kidney Int 2008;73:207-212.
5. Obligado SH, Goldfarb DS: The association of nephrolithiasis with hypertension and obesity: a review. Am J Hypertens 2008;21:257-264.
6. Curhan GC, Willett WC, Rimm EB, Stampfer MJ: Family history and risk of kidney stones. J Am Soc Nephrol 1997;8:1568-1573.
7. 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;68:966-971.
8. Stechman MJ, Loh NY, Thakker RV: Genetics of hypercalciuric nephrolithiasis: renal stone disease. Ann NY Acad Sci 2007;1116:461-484.
9. Devuyst O, Pirson Y: Genetics of hypercalciuric stone forming diseases. Kidney Int 2007;72:1065-1072.
10. Reed BY, Gitomer WL, Heller HJ, Hsu MC, Lemke M, Padalino P, Pak CY: Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density. J Clin Endocrinol Metab 2002;87:1476-1485.
11. Sands JM, Naruse M, Baum M, Jo I, Hebert SC, Brown EM, Harris HW: Apical extracellular calcium/polyvalent cation-sensing receptor regulates vasopressin-elicited water permeability in rat kidney inner medullary collecting duct. J Clin Invest 1997;99:1399-1405.
12. Vezzoli G, Terranegra A, Arcidiacono T, Biasion R, Coviello D, Syren ML, Paloschi V, Giannini S, Mignogna G, Rubinacci A, Ferraretto A, Cusi D, Bianchi G, Soldati L: R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria. Kidney Int 2007;71:1155-1162.
13. Favus MJ, Karnauskas AJ, Parks JH, Coe FL: Peripheral blood monocyte vitamin D receptor levels are elevated in patients with idiopathic hypercalciuria. J Clin Endocrinol Metab 2004;89:4937-4943.
14. Hoopes RR Jr, Middleton FA, Sen S, Hueber PA, Reid R, Bushinsky DA, Scheinman SJ: Isolation and confirmation of a calcium excretion quantitative trait locus on chromosome 1 in genetic hypercalciuric stone-forming congenic rats. J Am Soc Nephrol 2006;17:1292-1304.
15. 2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5. J Clin Invest 2003;112:1906-1914.
16. Suzuki Y, Pasch A, Bonny O, Mohaupt MG, Hediger MA, Frey FJ: Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation. Hum Mol Genet 2008;17:1613-1618.
17. Lalioti MD, Zhang J, Volkman HM, Kahle KT, Hoffmann KE, Toka HR, Nelson-Williams C, Ellison DH, Flavell R, Booth CJ, Lu Y, Geller DS, Lifton RP: Wnk4 controls blood pressure and potassium homeostasis via regulation of mass and activity of the distal convoluted tubule. Nat Genet 2006;38:1124-1132.
18. Aronson PS: Essential roles of CFEX-mediated Cl(-)-oxalate exchange in proximal tubule NaCl transport and prevention of urolithiasis. Kidney Int 2006;70:1207-1213.
19. Cochat P, Liutkus A, Fargue S, Basmaison O, Ranchin B, Rolland MO: Primary hyperoxaluria type 1: still challenging! Pediatr Nephrol 2006;21:1075-1081.
20. Troxel SA, Sidhu H, Kaul P, Low RK: Intestinal Oxalobacter formigenes colonization in calcium oxalate stone formers and its relation to urinary oxalate. J Endourol 2003;17:173-176.
21. Tanaka M, Itoh K, Matsushita K, Matsushita K, Wakita N, Adachi M, Nonoguchi H, Kitamura K, Hosoyamada M, Endou H, Tomita K: Two male siblings with hereditary renal hypouricemia and exercise-induced ARF. Am J Kidney Dis 2003;42:1287-1292.
22. Botzenhart E, Vester U, Schmidt C, Hesse A, Halber M, Wagner C, Lang F, Hoyer P, Zerres K, Eggermann T: Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes. Kidney Int 2002;62:1136-1142.
23. Fry AC, Karet FE: Inherited renal acidoses. Physiology (Bethesda) 2007;22:202-211.
24. Carr G, Sayer JA, Simmons NL: Expression and localisation of the pyrophosphate transporter, ANK, in murine kidney cells. Cell Physiol Biochem 2007;20:507-516.
25. Jaggi M, Nakagawa Y, Zipperle L, Hess B: Tamm-Horsfall protein in recurrent calcium kidney stone formers with positive family history: abnormalities in urinary excretion, molecular structure and function. Urol Res 2007;35:55-62.
26. Wolf MT, Zalewski I, Martin FC, Ruf R, Muller D, Hennies HC, Schwarz S, Panther F, Attanasio M, Acosta HG, Imm A, Lucke B, Utsch B, Otto E, Nurnberg P, Nieto VG, Hildebrandt F: Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage. Nephrol Dial Transplant 2005;20:909-914.
27. Gao B, Yasui T, Itoh Y, Tozawa K, Hayashi Y, Kohri K: A polymorphism of matrix Gla protein gene is associated with kidney stones. J Urol 2007;177:2361-2365.