The genetic components of idiopathic nephrolithiasis

Pediatric Nephrology

Volumn 26, Issue 3, 2011, Pages 337-346

  Attanasio, Massimo ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Association studies; Complex diseases; Genetics; Linkage analysis; Nephrolithiasis

Indexed keywords

ADENYLATE CYCLASE; CALCIUM OXALATE; CALCIUM SENSING RECEPTOR; CAVEOLIN 1;

BARTTER SYNDROME; BONE DENSITY; CRYSTALLIZATION; CYSTINURIA; DENT DISEASE; EFFECT SIZE; ENVIRONMENTAL EXPOSURE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; HUMAN; HYPERCALCIURIA; HYPEROXALURIA; HYPOKALEMIC ALKALOSIS; INSULIN RESISTANCE; KIDNEY TUBULE ACIDOSIS; LINKAGE ANALYSIS; MONOZYGOTIC TWINS; NEPHROLITHIASIS; NONHUMAN; OBESITY; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE TRAIT; REVIEW; RISK FACTOR; TWIN CONCORDANCE;

ANIMALS; DISEASE MODELS, ANIMAL; GENETIC PREDISPOSITION TO DISEASE; HEREDITY; HUMANS; INHERITANCE PATTERNS; NEPHROLITHIASIS; PEDIGREE; PHENOTYPE; RISK ASSESSMENT; RISK FACTORS;

EID: 79955018480     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-010-1562-6     Document Type: Review

References (76)

1. CY Pak 1998 Kidney stones Lancet 351 1797 1801 9635968 10.1016/S0140-6736(98)01295-1 1:STN:280:DyaK1c3pslyqsw%3D%3D (Pubitemid 28269199)
2. KK Stamatelou ME Francis CA Jones LM Nyberg GC Curhan 2003 Time trends in reported prevalence of kidney stones in the United States: 1976-1994 Kidney Int 63 1817 1823 12675858 10.1046/j.1523-1755.2003.00917.x (Pubitemid 36513328)
3. A Trinchieri F Ostini R Nespoli F Rovera E Montanari G Zanetti 1999 A prospective study of recurrence rate and risk factors for recurrence after a first renal stone J Urol 162 27 30 10379732 10.1097/00005392-199907000-00007 1:STN:280:DyaK1Mzgs1Cjsg%3D%3D (Pubitemid 29420872)
4. Pearle MS, Calhoun E, Curhan GC (2007) Urolithiasis. In: Litwin MS, Saigal CS (eds) Urologic diseases in America. US Department of Health and Human Services, Public Health Service, National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases. NIH Publication No. 07-5512. US Government Printing Office, Washington D.C., pp 282-319
5. OW Moe O Bonny 2005 Genetic hypercalciuria J Am Soc Nephrol 16 729 745 15689405 10.1681/ASN.2004100888 (Pubitemid 41725110)
6. G Gambaro G Vezzoli G Casari L Rampoldi A D'Angelo L Borghi 2004 Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms Am J Kidney Dis 44 963 986 15558518 10.1053/j.ajkd.2004. 06.030 1:CAS:528:DC%2BD2cXhtFChtL%2FN (Pubitemid 39556477)
7. MJ Stechman NY Loh RV Thakker 2007 Genetics of hypercalciuric nephrolithiasis: renal stone disease Ann N Y Acad Sci 1116 461 484 17872384 10.1196/annals.1402.030 1:CAS:528:DC%2BD1cXitVKnug%3D%3D (Pubitemid 350274327)
8. WG Robertson 2003 Renal stones in the tropics Semin Nephrol 23 77 87 12563603 10.1053/snep.2003.50007 (Pubitemid 36164471)
9. JM Soucie RJ Coates W McClellan H Austin M Thun 1996 Relation between geographic variability in kidney stones prevalence and risk factors for stones Am J Epidemiol 143 487 495 8610664 1:STN:280:DyaK287pvFaltA%3D%3D (Pubitemid 26085079)
10. JM Soucie MJ Thun RJ Coates W McClellan H Austin 1994 Demographic and geographic variability of kidney stones in the United States Kidney Int 46 893 899 7996811 10.1038/ki.1994.347 1:STN:280:DyaK2M%2FovFejuw%3D%3D (Pubitemid 24272050)
11. GC Curhan 1997 Dietary calcium, dietary protein, and kidney stone formation Miner Electrolyte Metab 23 261 264 9387129 1:CAS:528: DyaK2sXntFymtrc%3D (Pubitemid 27475357)
12. A Mente RJ Honey JR McLaughlin SB Bull AG Logan 2007 Ethnic differences in relative risk of idiopathic calcium nephrolithiasis in North America J Urol 178 1992 1997 10.1016/j.juro.2007.07.024 discussion 1997 (Pubitemid 47538603)
13. F Cosman J Nieves D Dempster R Lindsay 2007 Vitamin D economy in blacks J Bone Miner Res 22 Suppl 2 V34 38 18290719 10.1359/jbmr.07s220 1:CAS:528:DC%2BD1cXjslWgs7w%3D (Pubitemid 351304646)
14. EN Taylor GC Curhan 2007 Differences in 24-hour urine composition between black and white women J Am Soc Nephrol 18 654 659 17215441 10.1681/ASN. 2006080854 1:CAS:528:DC%2BD2sXit12is78%3D (Pubitemid 46193332)
15. M Braun C Palacios K Wigertz LA Jackman RJ Bryant LD McCabe BR Martin GP McCabe M Peacock CM Weaver 2007 Racial differences in skeletal calcium retention in adolescent girls with varied controlled calcium intakes Am J Clin Nutr 85 1657 1663 17556706 1:CAS:528:DC%2BD2sXmvVWqurg%3D (Pubitemid 46890437)
16. GC Curhan WC Willett EB Rimm MJ Stampfer 1997 Family history and risk of kidney stones J Am Soc Nephrol 8 1568 1573 9335385 1:STN:280: DyaK2svnsVelsw%3D%3D (Pubitemid 27496475)
17. FL Coe JH Parks ES Moore 1979 Familial idiopathic hypercalciuria N Engl J Med 300 337 340 759893 10.1056/NEJM197902153000703 1:STN:280: DyaE1M%2Fptlykug%3D%3D (Pubitemid 9114886)
18. P Nicolaidou S Themeli T Karpathios H Georgouli K Athanassaki A Xaidara J Messaritakis 1996 Family pattern of idiopathic hypercalciuria and its subtypes J Urol 155 1042 1044 8583560 10.1016/S0022-5347(01)66386-9 1:STN:280: DyaK287msVKltg%3D%3D (Pubitemid 26052711)
19. PM Visscher SE Medland MA Ferreira KI Morley G Zhu BK Cornes GW Montgomery NG Martin 2006 Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings PLoS Genet 2 e41 16565746 10.1371/journal.pgen.0020041
20. MG McGeown 1960 Heredity in renal stone disease Clin Sci 19 465 471 13773937 1:STN:280:DyaF3c%2FpsVSguw%3D%3D
21. DG Griffin 2004 A review of the heritability of idiopathic nephrolithiasis J Clin Pathol 57 793 796 15280397 10.1136/jcp.2003.014886 1:STN:280:DC%2BD2cznslSrsA%3D%3D (Pubitemid 39061425)
22. A Trinchieri A Mandressi P Luongo F Coppi E Pisani 1988 Familial aggregation of renal calcium stone disease J Urol 139 478 481 3343730 1:STN:280:DyaL1c7ktFCgug%3D%3D (Pubitemid 18085640)
23. M Resnick DB Pridgen HO Goodman 1968 Genetic predisposition to formation of calcium oxalate renal calculi N Engl J Med 278 1313 1318 5648597 10.1056/NEJM196806132782403 1:STN:280:DyaF1c3jsFSjtA%3D%3D
24. GF Falconer CW Adams 1965 The relationship between nutritional state and severity of atherosclerosis Guys Hosp Rep 114 130 139 14319321 1:STN:280:DyaF2M7itl2rsQ%3D%3D
25. DS Goldfarb ME Fischer Y Keich J Goldberg 2005 A twin study of genetic and dietary influences on nephrolithiasis: a report from the Vietnam Era Twin (VET) Registry Kidney Int 67 1053 1061 15698445 10.1111/j.1523-1755.2005.00170.x (Pubitemid 41623330)
26. MT Wolf I Zalewski FC Martin R Ruf D Muller HC Hennies S Schwarz F Panther M Attanasio HG Acosta A Imm B Lucke B Utsch E Otto P Nurnberg VG Nieto F Hildebrandt 2005 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 20 909 914 15741201 10.1093/ndt/gfh754 1:CAS:528:DC%2BD2MXltlCqsLw%3D (Pubitemid 40704026)
27. BY Reed HJ Heller WL Gitomer CY Pak 1999 Mapping a gene defect in absorptive hypercalciuria to chromosome 1q23.3-q24 J Clin Endocrinol Metab 84 3907 3913 10566627 10.1210/jc.84.11.3907 1:CAS:528:DyaK1MXntlOqt7o%3D (Pubitemid 30644173)
28. JH Edwards 1960 The simulation of Mendelism Acta Genet Stat Med 10 63 70 13725809 1:STN:280:DyaF3c%2FksFChtw%3D%3D
29. HO Goodman RP Holmes DG Assimos 1996 Re: family pattern of idiopathic hypercalciuria and its subtypes J Urol 156 2012 8911379 10.1016/S0022-5347(01) 65420-X 1:STN:280:DyaK2s%2FmvVSmsw%3D%3D (Pubitemid 26378041)
30. JC Loredo-Osti NM Roslin J Tessier TM Fujiwara K Morgan A Bonnardeaux 2005 Segregation of urine calcium excretion in families ascertained for nephrolithiasis: evidence for a major gene Kidney Int 68 966 971 16105027 10.1111/j.1523-1755.2005.00490.x 1:CAS:528:DC%2BD2MXhtVCjt7%2FL (Pubitemid 43246413)
31. TM Frayling NJ Timpson MN Weedon E Zeggini RM Freathy CM Lindgren JR Perry KS Elliott H Lango NW Rayner B Shields LW Harries JC Barrett S Ellard CJ Groves B Knight AM Patch AR Ness S Ebrahim DA Lawlor SM Ring Y Ben-Shlomo MR Jarvelin U Sovio AJ Bennett D Melzer L Ferrucci RJ Loos I Barroso NJ Wareham F Karpe KR Owen LR Cardon M Walker GA Hitman CN Palmer AS Doney AD Morris GD Smith AT Hattersley MI McCarthy 2007 A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity Science 316 889 894 17434869 10.1126/science.1141634 1:CAS:528:DC%2BD2sXltVentL0%3D (Pubitemid 46764279)
32. O Devuyst Y Pirson 2007 Genetics of hypercalciuric stone forming diseases Kidney Int 72 1065 1072 17687260 10.1038/sj.ki.5002441 1:CAS:528: DC%2BD2sXhtFOksLbK (Pubitemid 47609035)
33. FP Muldowney R Freaney MF Moloney 1982 Importance of dietary sodium in the hypercalciuria syndrome Kidney Int 22 292 296 7176331 10.1038/ki.1982.168 1:STN:280:DyaL3s%2Fos1OjsA%3D%3D (Pubitemid 12002446)
34. FB Stapleton 2002 Childhood stones Endocrinol Metab Clin North Am 31 1001 1015 12474642 10.1016/S0889-8529(02)00036-1 1:CAS:528:DC%2BD38Xps1Knu70%3D (Pubitemid 35403494)
35. M Cirillo D Stellato P Panarelli M Laurenzi NG De Santo 2003 Cross-sectional and prospective data on urinary calcium and urinary stone disease Kidney Int 63 2200 2206 12753308 10.1046/j.1523-1755.2003.t01-2-00003.x 1:CAS:528:DC%2BD3sXkvVyhsrw%3D (Pubitemid 36605832)
36. A Hodgkinson LN Pyrah 1958 The urinary excretion of calcium and inorganic phosphate in 344 patients with calcium stone of renal origin Br J Surg 46 10 18 13572812 10.1002/bjs.18004619504 1:STN:280:DyaG1M%2Fgt1WnsQ%3D%3D
37. GC Curhan WC Willett FE Speizer MJ Stampfer 2001 Twenty-four-hour urine chemistries and the risk of kidney stones among women and men Kidney Int 59 2290 2298 11380833 1:CAS:528:DC%2BD3MXks1Klurs%3D (Pubitemid 32467623)
38. DJ Hunter M Lange H Snieder AJ MacGregor R Swaminathan RV Thakker TD Spector 2002 Genetic contribution to renal function and electrolyte balance: a twin study Clin Sci (Lond) 103 259 265 1:CAS:528:DC%2BD38XntVelsLc%3D (Pubitemid 35007217)
39. D Hunter M De Lange H Snieder AJ MacGregor R Swaminathan RV Thakker TD Spector 2001 Genetic contribution to bone metabolism, calcium excretion, and vitamin D and parathyroid hormone regulation J Bone Miner Res 16 371 378 11204437 10.1359/jbmr.2001.16.2.371 1:CAS:528:DC%2BD3MXptlyjsw%3D%3D (Pubitemid 32105418)
40. AV Osorio US Alon 1997 The relationship between urinary calcium, sodium, and potassium excretion and the role of potassium in treating idiopathic hypercalciuria Pediatrics 100 675 681 9310524 10.1542/peds.100.4.675 1:STN:280:DyaK2svls1ahsA%3D%3D (Pubitemid 27425993)
41. NP So AV Osorio SD Simon US Alon 2001 Normal urinary calcium/creatinine ratios in African-American and Caucasian children Pediatr Nephrol 16 133 139 11261680 10.1007/s004670000510 1:STN:280:DC%2BD3M7lvVyqtQ%3D%3D (Pubitemid 32125162)
42. CM Johnson DM Wilson WM O'Fallon RS Malek LT Kurland 1979 Renal stone epidemiology: a 25-year study in Rochester, Minnesota Kidney Int 16 624 631 548606 10.1038/ki.1979.173 1:STN:280:DyaL3c3jtVKgtA%3D%3D (Pubitemid 10163674)
43. RP Holmes DG Assimos HO Goodman 1998 Genetic and dietary influences on urinary oxalate excretion Urol Res 26 195 200 9694602 10.1007/s002400050046 1:CAS:528:DyaK1cXktVejtrk%3D (Pubitemid 28305385)
44. LL Hamm KS Hering-Smith 2002 Pathophysiology of hypocitraturic nephrolithiasis Endocrinol Metab Clin North Am 31 885 893 12474636 10.1016/S0889-8529(02)00031-2 1:CAS:528:DC%2BD38Xps1Knurk%3D viii (Pubitemid 35403489)
45. O Shah DG Assimos RP Holmes 2005 Genetic and dietary factors in urinary citrate excretion J Endourol 19 177 182 15798414 10.1089/end.2005.19.177 (Pubitemid 40490459)
46. DA Bushinsky 1996 Genetic hypercalciuric stone forming rats Semin Nephrol 16 448 457 8890400 1:CAS:528:DyaK28XmsVajsLo%3D (Pubitemid 26320153)
47. RR Hoopes Jr R Reid S Sen C Szpirer P Dixon AA Pannett RV Thakker DA Bushinsky SJ Scheinman 2003 Quantitative trait loci for hypercalciuria in a rat model of kidney stone disease J Am Soc Nephrol 14 1844 1850 12819244 10.1097/01.ASN.0000073920.43848.A3 1:CAS:528:DC%2BD3sXksV2isr0%3D (Pubitemid 36750479)
48. JR Asplin KA Bauer J Kinder G Muller BJ Coe JH Parks FL Coe 2003 Bone mineral density and urine calcium excretion among subjects with and without nephrolithiasis Kidney Int 63 662 669 12631132 10.1046/j.1523-1755.2003.00763.x 1:CAS:528:DC%2BD3sXht1yrt78%3D (Pubitemid 36126813)
49. V Garcia-Nieto C Ferrandez M Monge M de Sequera MD Rodrigo 1997 Bone mineral density in pediatric patients with idiopathic hypercalciuria Pediatr Nephrol 11 578 583 9323283 10.1007/s004670050347 1:STN:280:DyaK2svmsVGluw%3D%3D (Pubitemid 27397093)
50. BY Reed WL Gitomer HJ Heller MC Hsu M Lemke P Padalino CY Pak 2002 Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density J Clin Endocrinol Metab 87 1476 1485 11932268 10.1210/jc.87.4.1476 1:CAS:528:DC%2BD38XivFKlsbY%3D (Pubitemid 34615225)
51. G Thorleifsson H Holm V Edvardsson GB Walters U Styrkarsdottir DF Gudbjartsson P Sulem BV Halldorsson F de Vegt FC d'Ancona M den Heijer L Franzson C Christiansen P Alexandersen T Rafnar K Kristjansson G Sigurdsson LA Kiemeney M Bodvarsson OS Indridason R Palsson A Kong U Thorsteinsdottir K Stefansson 2009 Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density Nat Genet 41 926 930 19561606 10.1038/ng.404 1:CAS:528:DC%2BD1MXnslOjsrs%3D
52. DB Simon Y Lu KA Choate H Velazquez E Al-Sabban M Praga G Casari A Bettinelli G Colussi J Rodriguez-Soriano D McCredie D Milford S Sanjad RP Lifton 1999 Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption Science 285 103 106 10390358 10.1126/science.285.5424.103 1:CAS:528:DyaK1MXksVCqtb8%3D (Pubitemid 29307575)
53. M Konrad A Schaller D Seelow AV Pandey S Waldegger A Lesslauer H Vitzthum Y Suzuki JM Luk C Becker KP Schlingmann M Schmid J Rodriguez-Soriano G Ariceta F Cano R Enriquez H Juppner SA Bakkaloglu MA Hediger S Gallati SC Neuhauss P Nurnberg S Weber 2006 Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement Am J Hum Genet 79 949 957 17033971 10.1086/508617 1:CAS:528:DC%2BD28XhtFygs7zK (Pubitemid 44763409)
54. EN Taylor MJ Stampfer GC Curhan 2005 Obesity, weight gain, and the risk of kidney stones JAMA 293 455 462 15671430 10.1001/jama.293.4.455 1:CAS:528:DC%2BD2MXntFKmsg%3D%3D
55. A Mente RJ Honey JM McLaughlin SB Bull AG Logan 2006 High urinary calcium excretion and genetic susceptibility to hypertension and kidney stone disease J Am Soc Nephrol 17 2567 2575 16855017 10.1681/ASN.2005121309 1:CAS:528:DC%2BD28XpvFOns7Y%3D (Pubitemid 44300973)
56. CY Pak K Sakhaee O Moe GM Preminger JR Poindexter RD Peterson P Pietrow W Ekeruo 2003 Biochemical profile of stone-forming patients with diabetes mellitus Urology 61 523 527 12639639 10.1016/S0090-4295(02)02421-4 (Pubitemid 36297072)
57. Lloyd SE, Pearce SH, Fisher SE, Steinmeyer K, Schwappach B, Scheinman SJ, Harding B, Bolino A, Devoto M, Goodyer P, Rigden SP, Wrong O, Jentsch TJ, Craig IW, Thakker RV (1996) A common molecular basis for three inherited kidney stone diseases. Nature 379:445-449 (Pubitemid 26039523)
58. Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP (1996) Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13:183-188
59. Simon DB, Karet FE, Rodriguez-Soriano J, Hamdan JH, DiPietro A, Trachtman H, Sanjad SA, Lifton RP (1996) Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat Genet 14:152-156 (Pubitemid 26338794)
60. Simon DB, Bindra RS, Mansfield TA, Nelson-Williams C, Mendonca E, Stone R, Schurman S, Nayir A, Alpay H, Bakkaloglu A, Rodriguez-Soriano J, Morales JM, Sanjad SA, Taylor CM, Pilz D, Brem A, Trachtman H, Griswold W, Richard GA, John E, Lifton RP (1997) Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nat Genet 17:171-178 (Pubitemid 27425949)
61. Hendy GN, Minutti C, Canaff L, Pidasheva S, Yang B, Nouhi Z, Zimmerman D, Wei C, Cole DE (2003) Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene. J Clin Endocrinol Metab 88:3674-3681 (Pubitemid 37034513)
62. Vargas-Poussou R, Huang C, Hulin P, Houillier P, Jeunemaître X, Paillard M, Planelles G, Déchaux M, Miller RT, Antignac C (2002) Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome. J Am Soc Nephrol 13:2259-2266 (Pubitemid 34925236)
63. Bruce LJ, Cope DL, Jones GK, Schofield AE, Burley M, Povey S, Unwin RJ, Wrong O, Tanner MJ (1997) Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene. J Clin Invest 100:1693-1707 (Pubitemid 27431325)
64. Smith AN, Skaug J, Choate KA, Nayir A, Bakkaloglu A, Ozen S, Hulton SA, Sanjad SA, Al-Sabban EA, Lifton RP, Scherer SW, Karet FE (2000) Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing. Nat Genet 26:71-75
65. Nishiyama K, Funai T, Katafuchi R, Hattori F, Onoyama K, Ichiyama A (1991) Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene. Biochem Biophys Res Commun 176:1093-1099
66. Cramer SD, Ferree PM, Lin K, Milliner DS, Holmes RP (1999) The gene encoding hydroxypyruvate reductase (GRHPR) is mutated in patients with primary hyperoxaluria type II. Hum Mol Genet 8:2063-2069 (Pubitemid 29458734)
67. Parvari R, Brodyansky I, Elpeleg O, Moses S, Landau D, Hershkovitz E (2001) A recessive contiguous gene deletion of chromosome 2p16 associated with cystinuria and a mitochondrial disease. Am J Hum Genet 69:869-875 (Pubitemid 32868531)
68. Feliubadaló L, Font M, Purroy J, Rousaud F, Estivill X, Nunes V, Golomb E, Centola M, Aksentijevich I, Kreiss Y, Goldman B, Pras M, Kastner DL, Pras E, Gasparini P, Bisceglia L, Beccia E, Gallucci M, de Sanctis L, Ponzone A, Rizzoni GF, Zelante L, Bassi MT, George AL Jr, Manzoni M, De Grandi A, Riboni M, Endsley JK, Ballabio A, Borsani G, Reig N, Fernández E, Estévez R, Pineda M, Torrents D, Camps M, Lloberas J, Zorzano A, Palacín M; International Cystinuria Consortium (1999) Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBAT. Nat Genet 23:52-57 (Pubitemid 29418787)
69. Monga M, Macias B, Groppo E, Hargens A (2006) Genetic heritability of urinary stone risk in identical twins. J Urol 175:2125-2128 (Pubitemid 43668519)
70. Piwon N, Günther W, Schwake M, Bösl MR, Jentsch TJ (2000) ClC-5 Cl- -channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature 408:369-373
71. Cao G, Yang G, Timme TL, Saika T, Truong LD, Satoh T, Goltsov A, Park SH, Men T, Kusaka N, Tian W, Ren C, Wang H, Kadmon D, Cai WW, Chinault AC, Boone TB, Bradley A, Thompson TC (2003) Disruption of the caveolin-1 gene impairs renal calcium reabsorption and leads to hypercalciuria and urolithiasis. Am J Pathol 162:1241-1248 (Pubitemid 36350668)
72. Jiang Z, Asplin JR, Evan AP, Rajendran VM, Velazquez H, Nottoli TP, Binder HJ, Aronson PS (2006) Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6. Nat Genet 38:474-478
73. Beck L, Karaplis AC, Amizuka N, Hewson AS, Ozawa H, Tenenhouse HS (1998) Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities. Proc Natl Acad Sci U S A 95:5372-5377 (Pubitemid 28208605)
74. Hoenderop JG, van Leeuwen JP, van der Eerden BC, Kersten FF, van der Kemp AW, Mérillat AM, Waarsing JH, Rossier BC, Vallon V, Hummler E, Bindels RJ (2003) Renal Ca2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5. J Clin Invest 112:1906-1914 (Pubitemid 38063714)
75. Elizondo MR, Arduini BL, Paulsen J, MacDonald EL, Sabel JL, Henion PD, Cornell RA, Parichy DM (2005) Defective skeletogenesis with kidney stone formation in dwarf zebrafish mutant for trpm7. Curr Biol 15:667-671
76. Bannasch D, Safra N, Young A, Karmi N, Schaible RS, Ling GV (2008) Mutations in the SLC2A9 gene cause hyperuricosuria and hyperuricemia in the dog. PLoS Genet 4:e1000246