Genetic aspects of urolithiasis


Cite item

Full Text

Open Access Open Access
Restricted Access Access granted
Restricted Access Subscription or Fee Access

Abstract

The article presents summarized results of domestic and international studies of the genetic aspects of urolithiasis. The presented evidence suggests the importance of early and accurate molecular genetic diagnostics of hereditary diseases associated with stone formation for timely treatment and prevention for patients' relatives. Also provided are examples of using molecular genetic diagnostics in urologist's practice for monogenic and multifactorial diseases associated with stone formation. Taken together, these results show that using modern post-genomic technologies for assessing the risk of hereditary predisposition to urolithiasis is justified.

Full Text

Restricted Access

About the authors

T. V Filippova

Sechenov First Moscow State Medical University

Email: dr.filippova@mail.ru
Department of Medical Genetics

Yu. G Alyaev

Sechenov First Moscow State Medical University

Department of Urology

V. I Rudenko

Sechenov First Moscow State Medical University

Email: rudenko-vadim@rambler.ru
Department of Urology

A. Yu Asanov

Sechenov First Moscow State Medical University

Email: asanov@mmascience.ru
Department of Medical Genetics

Z. K Gadzhieva

Sechenov First Moscow State Medical University

Department of Urology

T. I Subbotina

Sechenov First Moscow State Medical University

Email: kuha48@yandex.ru
Department of Medical Genetics

A. N Perekalina

Sechenov First Moscow State Medical University

Department of Urology

References

  1. Аляев Ю.Г., Руденко В.И., Газимиев М.-С.А. Мочекаменная болезнь. Актуальные вопросы диагностики и выбора метода лечения. М.: Тверь: ООО «Издательство “Триада”», 2006. 236 с
  2. Аляев Ю.Г., Амосов А.В., Саенко В.С. Метафилактика мочекаменной болезни. М.: ЭКСМО, 2007
  3. Аполихин О.И., Сивков А.В., Константинова О.В., Сломинский П.А., Тупицина Т.В., Калиниченко Д.Н. Поиск полиморфных вариантов кандидатных генов мочекаменной болезни в российской популяции. Экспериментальная и клиническая урология. 2003; 3: 26-23
  4. Vasmi Sodimbaru, Latha Pujari. Urolithiasis - an update review over Genetics, Pathophysiology and its clinical management. International journal of Pharmacy and Pharmaceutical Sciences. 2014; 6(Issue 11): 24-31.
  5. Аляев Ю.Г., Руденко В.И., Газимиев М.А., Саенко В.С., Сорокин Н.И. Мочекаменная болезнь. Современные методы диагностики и лечения. М.: ГЭОТАР-Медиа. 2010. С. 38-42
  6. Лойманн Э., Цигин А.Н., Саркисян А.А. Детская нефрология. Практическое руководство. М.: Литтерра, 2010. 390 с.
  7. Черепанова Е.В., Дзеранов Н.К. Метафилактика мочекаменной болезни в амбулаторных условиях. Экспериментальная и клиническая урология. 2013; 3: 33-39
  8. Dal Moro F., Mancini M., Tavolini I.M., De Marco V., Bassi P. Cellular and molecular getaways to Urolithiasis: A new insight. Urologia Internationalist. 2005; 74: 193-197.
  9. Lloyd S.E., Gunther W., Pearce S.H.S., Thomson A., Bianchi M.L., Bosio M., Craig I.W., Fisher S.E., Scheinman S.J., Wrong O., Jentsch T.J., Thakker R.V. Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders. Hum. Molec. Genet. 1997; 6: 1233-1239.
  10. Lloyd S.E., Pearce S.H.S., Fisher S.E., Steinmeyer K., Schwappach B., Scheinman S.J., Harding B., Bolino A., Devoto M., Goodyer P., Rigden S.P.A., Wrong O., Jentsch T.J., Craig I.W., Thakker R.V. A common molecular basis for three inherited kidney stone diseases. Nature. 1996; 379: 445-449.
  11. Tosetto E.,Ceol M., Mezzabotta F., Ammenti A., Peruzzi L., Caruso M.R., Barbano G., Vezzoli G., Colussi G., Vergine G., Giordano M., Glorioso N., Degortes S., Soldati L., Sayer J., DAngelo A., Anglani F. Novel mutations of the CLCN5 gene including a complex allele and a 5-prime UTR mutation in Dent disease 1. (Letter) Clin. Genet. 2009; 76: 413-416.
  12. Prie D., Huart V., Bakouh N., Planelles G., Dellis O., Gerard B., Hulin P., Benque-Blanchet F., Silve C., Grandchamp B., Friedlander G. Nephrolithiasis and osteoporosis associated with hy-pophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter. New Eng. J. Med. 2002; 347: 983-991.
  13. Simon D.B., Lu Y., Choate K.A., Velazquez H., Al-Sabban E., Praga M., Casari G., Bettinelli A., Colussi G., Rodriguez-Soriano J., McCredle D., Milford D., Sanjad S., Lifton R.P. Paracellin-1, a renal tight junction protein required for paracellular Mg(2+) resorption. Science. 1999; 285: 103-106.
  14. Kausalya P.J., Amasheh S., Gunzel D., Wurps H., Muller D., Fromm M., Hunziker W. Disease-associated mutations affect intracellular traffic and paracellular Mg2+ transport function of claudin-16. J. Clin. Invest. 2006; 116: 878-891.
  15. Weber S., Hoffmann K., Jeck N., Saar K., Boeswald M., Kuwertz-Broeking E., Meij I.I.C., Knoers N.V.A.M., Cochat P., Sulakova T., Bonzel K.E., Soergel M., Manz F., Schaerer K., Seyberth H.W., Reis A., Konrad M. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene. Europ. J. Hum. Genet. 2000; 8: 414- 422.
  16. Simon D.B., Bindra R.S., Mansfield T.A., Nelson-Williams C., Mendonca E., Stone R., Schurman S., Nayir A., Alpay H., Bakkaloglu A., Rodriguez-Soriano J., Morales J.M., Sanjad S.A., Taylor C.M., Pilz D., Brem A., Trachtman H., Griswold W., Richard G.A., John E., Lifton R.P. Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III. Nature Genet. 1997; 17: 171-178.
  17. Keebaugh A.C., Sullivan R.T., NISC Comparative Sequencing Program, Thomas J.W. Gene duplication and inactivation in the HPRT gene family. Genomics. 2007; 89: 134-142.
  18. Bruce L.J., Cope D.L., Jones G.K., Schofield A.E., Burley M., Povey S., Unwin R.J., Wrong O., Tanner M.J.A. Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (band 3, AE1) gene. J. Clin. Invest. 1997; 100: 1693-1707.
  19. Wilson J.M., Kelley W.N. Human hypoxanthine-guanine phosphoribosyltransferase: structural alteration in a dysfunctional enzyme variant (HPRT-Munich) isolated from a patient with gout. J. Biol. Chem. 1984; 259: 27-30.
  20. Becker M.A. Hyperuricemia and Gout. In: Scriver C.R.; Beaudet A.L.; Sly W.S.; Valle D. (eds.): The Metabolic and Molecular Bases of Inherited Disease. Vol. I.I. New York: McGraw-Hill (8th ed.). 2001. P. 2625.
  21. Xu P., Zhu X.L., Huecksteadt T.P., Brothman A.R., Hoidal J.R. Assignment of human xanthine dehydrogenase gene to chromosome 2p22. Genomics. 1994; 23: 289-291.
  22. Ichida K., Amaya Y., Kamatani N., Nishino T., Hosoya T., Sakai O. Identification of two mu-tations in human xanthine dehydrogenase gene responsible for classical type I. xanthinuria. J. Clin. Invest. 1997; 99: 2391-2397.
  23. Sakamoto N., Yamamoto T., Moriwaki Y., Teranishi T., Toyoda M., Onishi Y., Kuroda S., Sakaguchi K., Fujisawa T., Maeda M., Hada, T. Identification of a new point mutation in the human xanthine dehydrogenase gene responsible for a case of classical type I. xanthinuria. Hum. Genet. 2001; 108: 279-283.
  24. Takada Y., Kaneko N., Esumi H., Purdue P.E., Danpure C.J. Human peroxisomal L-alanine: glyoxylate aminotransferase: evolutionary loss of a mitochondrial targeting signal by point mutation of the initiation codon. Biochem. J. 1990; 268: 517-520.
  25. Pirulli D., Puzzer D., Ferri L., Crovella S., Amoroso A., Ferrettini C., Marangella M., Mazzola G., Florian F. Molecular analysis of hyperoxaluria type 1 in Italian patients reveals eight new mutations in the alanine: glyoxylate aminotransferase gene. Hum. Genet. 1999; 104: 523-525.
  26. Purdue P.E., Allsop J., Isaya G., Rosenberg L.E., Danpure C.J. Mistargeting of peroxisomal L-alanine: glyoxylate aminotransferase to mitochondria in primary hyperoxaluria patients depends upon activation of a cryptic mitochondrial targeting sequence by a point mutation. Proc. Nat. Acad. Sci. 1991; 88: 10900-10904.
  27. Barbosa M., Lopes A., Mota C., Martins E., Oliveira J., Alves S., De Bonis P., do Ceu Mota M., Dias C., Rodrigues-Santos P., Fortuna A.M., Quelhas D., Lacerda L., Bisceglia L., Cardoso M.L. Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients. Clin. Genet. 2012; 81: 47-55.
  28. Arcidiacono T., Mingione A., Macrina L., Pivari F., Soldati L., Vezzoli G. Idiopathic calcium nephrolithiasis: a review of pathogenic mechanisms in the light of genetic studies. Am J. Nephrol. 2014; 40(6): 499-506.
  29. Аполихин О.И., Сивков А.В., Константинова О.В., Тупицына Т.В., Сломинский П.А., Калиниченко Д.Н. Связь од-ностороннего и двустороннего уролитиаза с генетическими факторами. Экспериментальная и клиническая урология. 2015; 2: 68-70
  30. Vezzoli G., Terranegra A., Arcidiacono T., Soldati L. Genetics and calcium nephrolithiasis. Kidney international. 2011; 80(6): 587-93.
  31. Vezzoli G., Soldati L., Gambaro G. Update on primary hypercalciuria from a genetic perspective. J. Urol. 2008; 179(5): 1676-1682.
  32. Аполихин О.И., Сивков А.В., Константинова О.В., Тупицына Т.В., Сломинский П.А., Калиниченко Д.Н. Генетические факторы риска образования множественных камней почек в российской популяции. Урология. 2015; 4: 4-7
  33. Monico C.G., Milliner D.S. Genetic Determinants of Urolithiasis. Nat Rev Nephrol. 2011; 8(3): 151-162.
  34. Claverie M.F. Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis: clinical and molecular characteristics. Clinl Kid J. 2015; 8(6): 656-664.
  35. Konrad M., Hou J., Weber S., Dötsch J., Kari J.A., Seeman T., Kuwertz-Bröking E., Peco-Antic A., Tasic V., Dittrich K., Alshaya H.O., von Vigier R.O., Gallati S., Goodenough D.A., Schaller A. CLDN16 genotype predicts renal decline in familial hypomagnesemia with hypercalciuria and nephrocalcinosis. J. Am Soc Nephrol. 2008; 19(1): 171-181.
  36. Мальцев С.В., Михайлова Т.В., Кравцова О.А. Генетические и клинические аспекты нефролитаза и нефрокальциноза у детей с гиперкальциурией. - 2014 -Практическая медицина. Педиатрия. 2014; 14: 118-125
  37. Iwaki T., Sandoval-Cooper M.J., Tenenhouse H.S., Castellino F.J. A missense mutation in the sodium phosphate co-transporter Slc34a1 impairs phosphate homeostasis. J. Am Soc Nephrol. 2008; 19(9): 1753-1762.
  38. Lee N.P.Y., Tong M.K., Leung P.P., Chan V.W., Leung S., Tam P.-C., Chan K.-W., Lee K.-F., Yeung W.S.B., Luk J.M. Kidney claudin-19: localization in distal tubules and collecting ducts and dysregulation in polycystic renal disease. FEBS Lett. 2006; 580: 923-931.
  39. Konrad M., Schaller A., Seelow D., Pandey A.V., Waldegger S., Lesslauer A., Vitzthum H., Suzuki Y., Luk J.M., Becker C., Schlingmann K.P., Schmid M. and 11 others. 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. 2006; 79: 949-957.
  40. Faguer S., Chauveau D., Cintas P., Tack I., Cointault O., Rostaing L., Vargas-Poussou R., Ribes D. Renal, ocular, and neuromuscular involvements in patients with CLDN19 mutations. Clin J. Am Soc Nephrol. 2011; 6(2): 355-360.
  41. Segawa H., Kaneko I., Takahashi A., Kuwahata M., Ito M., Ohkido I., Tatsumi S., Miyamoto, K. Growth-related renal type II Na/Pi cotransporter. J. Biol. Chem. 2002; 277: 19665-19672.
  42. Dasgupta D., Wee M.J., Reyes M., Li Y., Simm P.J., Sharma A., Schlingmann K.P., Janner M., Biggin A., Lazier J., Gessner M., Chrysis D., Tuchman S., Baluarte H.J., Levine M.A., Tiosano D., Insogna K., Hanley D.A., Carpenter T.O., Ichikawa S., Hoppe B., Konrad M., Sävendahl L., Munns C.F., Lee H., Jüppner H., Bergwitz C. Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. J. Am Soc Nephrol. 2014; 25(10): 2366-2375.
  43. Suzuki M., Ohki G., Ishibashi K., Imai M. A single amino acid mutation results in a rapid in-activation of epithelial calcium channels. Biochem. Biophys. Res. Commun. 2002; 291: 278-285.
  44. Anas K., Wu M.-S., Sung-Ching Wong H., Hsu Y.-W., Chou Y.-H., n Chen H.-Y. A Single Nucleotide Polymorphism (rs4236480) in TRPV5 Calcium Channel Gene Is Associated with Stone Multiplicity in Calcium Nephrolithiasis Patients. Mediators Inflamm. 2015; 2015: 375427.
  45. Telci D., Dogan A.U., Ozbek E., Polat E.C., Simsek A., Cakir S.S., Yeloglu H.O., Sahin F. KLOTHO gene polymorphism of G395A is associated with kidney stones. Am J. Neph-rol. 2011; 33(4): 337-343.
  46. Xu C., Song R.J., Yang J., Jiang B., Wang X.L., Wu W., Zhang W. Klotho gene polymorphism of rs3752472 is associated with the risk of urinary calculi in the population of Han nationality in Eastern China. Gene. 2013; 526(2): 494-497.
  47. Simon D.B., Karet F.E., Hamdan J.M., Di Pietro A., Sanjad S.A., Lifton R.P. Bartter's syn-drome, hypokalemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl co-transporter NKCC2. Nature Genet. 1996; 13: 183-188.
  48. Halbritter J., Baum M., Hynes A.M., Rice S.J., Thwaites D.T., Gucev Z.S., Fisher B., Spaneas L., Porath J.D., Braun D.A., Wassner A.J., Nelson C.P., Tasic V., Sayer J.A., Hildebrandt F. Four-teen monogenic genes account for 15% of nephrolithiasis / nephrocalcinosis. J. Am Soc Nephrol. 2015; 26(3): 543-551.
  49. Hildebrandt F. Genetic kidney diseases. Lancet. 2010; 375(9722): 1287-1295.
  50. Thorleifsson G., Holm H., Edvardsson V., Walters G.B., Styrkarsdottir U., Gudjartsson D.F., Sulem P., Halldorsson B.V., de Vegt F., d'Ancona F.C.H., den Heijer M., Franzson L., and 12 oth-ers. Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. Nature Genet. 2009; 41: 926-930.
  51. Toka H.R., Genovese G., Mount D.B., Pollak M.R., Curhan G.C. Frequency of rare allelic variation in candidate genes among individuals with low and high urinary calcium excretion. PLoS One. 2013; 8(8): e71885.
  52. Guha M., Bankura B., Ghosh S., Pattanayak A.K., Ghosh S., Pal D.K., Puri A., Kundu A.K., Das M. Polymorphisms in CaSR and CLDN14 Genes Associated with Increased Risk of Kidney Stone Disease in Patients from the Eastern Part of India. PLoS One. 2015; 10(6): e0130790.
  53. Chou Y.H., Juo S.H., Chiu Y.C., Liu M.E., Chen W.C., Chang C.C., Chang W.P., Chang J.G., Chang W.C. A polymorphism of the ORAI1 gene is associated with the risk and recurrence of calcium nephrolithiasis. J. Urol. 2011; 185(5): 1742-1746.

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

This website uses cookies

You consent to our cookies if you continue to use our website.

About Cookies