urovestВестник урологииUrology Herald2308-6424Rostov State Medical Universityurovest-27Research ArticleОБЗОРЫ ЛИТЕРАТУРЫREVIEWS ARTICLEЭМБРИОНАЛЬНЫЕ АСПЕКТЫ ВРОЖДЕННЫХ АНОМАЛИЙ ПОЧЕК И МОЧЕВЫХ ПУТЕЙ (CAKUT-СИНДРОМ)EMBRYOLOGICAL ASPECTS OF СONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT (CAKUT): REVIEWВасильевА. О.VasilyevA. O.alexvasilyev@me.comГоворовА. В.GovorovA. V.alexgovorov@newmail.ruПушкарьД. Ю.PushkarD. Y.pushkardm@mail.ruКафедра урологии ГБОУ ВПО Московский государственный медико-стоматологический университет имени А.И. Евдокимова Минздрава России, Россия, МоскваРоссияDepartment of Urology of Moscow State University of Medicine and Dentistry named after A.I. Evdokimov, Moscow, RussiaRussian Federation201520062015024760Copyright © Васильев А.О., Говоров А.В., Пушкарь Д.Ю., 20152015Васильев А.О., Говоров А.В., Пушкарь Д.Ю.Vasilyev A.O., Govorov A.V., Pushkar D.Y.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.urovest.ru/jour/article/view/27

В клинической практике врачей урологов и нефрологов аномалиями развития принято называть структурные и/или функциональные отклонения органов мочевой и половой систем, обусловленные нарушением эмбрионального развития. Значительный рост числа врожденных пороков может быть обусловлен тем, что в эмбриогенезе почка является органом-мишенью для воздействия различных по характеру повреждающих факторов, среди которых особое место занимают прием лекарственных препаратов и соматический статус матери. Нарушение антенатального развития почек часто может сочетаться с пороками развития нижних мочевых путей . Данное состояние часто называют СAKUT- синдромом, в развитии которого играет роль сочетание мутации генов. В данной статье мы описываем большинство врожденных аномалий почек и мочевых путей. Значительное улучшение антенатальной диагностики пороков развития также способствовало увеличению данного показателя. Понимание процесса эмбриологии мочеполовых органов позволяет своевременно диагностировать нарушения в системе мать-плацента-плод.

 

In clinical practice, urologists and nephrologists abnormalities called structural and / or functional abnormalities of the urinary and reproductive systems, caused by disturbance of embryonic development. A significant increase in the number of birth defects may be due to the fact that in embryogenesis kidney is the target organ for exposure to various damaging factors in nature, among which a special place is occupied by medication and physical status of the mother. Violation of prenatal development of the kidneys can often be combined with defects of the lower urinary tract. This condition is often called CAKUT in the development of the role played by the combination of gene mutations. In this article, we describe the majority of congenital anomalies of the kidneys and urinary tract. Significant improvement in antenatal diagnosis of malformations also contributed to the increase in this indicator. Understanding the embryology urinary organs allows to diagnose disorders in the mother-placenta-fetus system.

аномалии развитияврожденные пороки развитияорганы мочевыделительной системыэмбриогенезСAKUTabnormalitiescongenital malformationsurinary systemembryogenesisСAKUTReferencesdos Santos Junior, A.C. Congenital anomalies of the kidney and urinary tract: an embryogenetic review / A.C. dos Santos Junior, D.M. de Miranda, Silva A.C. e Simões // Birth Defects Res C Embryo Today. – 2014, Vol. 102, №4 – P. 374-381.dos Santos Junior, A.C. Congenital anomalies of the kidney and urinary tract: an embryogenetic review / A.C. dos Santos Junior, D.M. de Miranda, Silva A.C. e Simões // Birth Defects Res C Embryo Today. – 2014, Vol. 102, №4 – P. 374-381.Пытель, А.Я. Избранные главы урологии и нефрологии. Часть 1 / А.Я. Пытель, С.Д. Голигорский. - Л.: Медицина, 1968. - 312 с..Пытель, А.Я. Избранные главы урологии и нефрологии. Часть 1 / А.Я. Пытель, С.Д. Голигорский. - Л.: Медицина, 1968. - 312 с..Yerkes, E. Role of angiotensin in the congenital anomalies of the kidney and uri- nary tract in the mouse and the human / E. Yerkes, H. Nishimura, Y. Miyazaki // Kidney Int. – 1998; Vol. 67, - P. 75–77.Yerkes, E. Role of angiotensin in the congenital anomalies of the kidney and uri- nary tract in the mouse and the human / E. Yerkes, H. Nishimura, Y. Miyazaki // Kidney Int. – 1998; Vol. 67, - P. 75–77.Toka, H.R. Congenital Anomalies of Kidney and Urinary Tract / H.R. Toka, O. Toka, A. Hariri, H.T. Nguyen // Samin Nephril. – 2010, Vol. 30, №4 – P. 374– 386.Toka, H.R. Congenital Anomalies of Kidney and Urinary Tract / H.R. Toka, O. Toka, A. Hariri, H.T. Nguyen // Samin Nephril. – 2010, Vol. 30, №4 – P. 374– 386.Pope, J.C. IV. How they begin and how they end classic and new theories for the development and deterioration of congenital anomalies of the kidney and urinary tract, CAKUT / J.C. Pope IV, J.W. Brock III, M.C. Adams // JASN. – 1999, Vol. 10, №9 – P. 2018–2028.Pope, J.C. IV. How they begin and how they end classic and new theories for the development and deterioration of congenital anomalies of the kidney and urinary tract, CAKUT / J.C. Pope IV, J.W. Brock III, M.C. Adams // JASN. – 1999, Vol. 10, №9 – P. 2018–2028.Loane, M. EUROCAT statistical monitoring: identification and investigation of ten year trends of congenital anomalies in Europe / M. Loane, H. Dolk, A. Kelly // Birth defects Res A Clin Mol Teratol. – 2011, Vol. 91, №1 – P. 31-43.Loane, M. EUROCAT statistical monitoring: identification and investigation of ten year trends of congenital anomalies in Europe / M. Loane, H. Dolk, A. Kelly // Birth defects Res A Clin Mol Teratol. – 2011, Vol. 91, №1 – P. 31-43.Эрман, М.В. Нефрология детского возраста / М.В. Эрман. - Санкт- Петербург: СпецЛит, 2010. - 683 с.Эрман, М.В. Нефрология детского возраста / М.В. Эрман. - Санкт- Петербург: СпецЛит, 2010. - 683 с.Renkema, K.Y. EUCAKUT consortium/Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT) / K.Y. Renkema, P.J. Winyard, I.N. Skovorodkin // Nephrol. Dial. Transplant. – 2011, Vol. 26, №12 – P. 3843–3851.Renkema, K.Y. EUCAKUT consortium/Novel perspectives for investigating congenital anomalies of the kidney and urinary tract (CAKUT) / K.Y. Renkema, P.J. Winyard, I.N. Skovorodkin // Nephrol. Dial. Transplant. – 2011, Vol. 26, №12 – P. 3843–3851.Boualia, SK. Vesicoureter Reflux and Other Urinary Tract Malformation in Mice Compaund / S.K. Boualia, Y. Gartan, I. Murawski // PRoS One. – 2011, Vol. 6, №6 –P. 215–224. 10. Chuary, Ya. The role of PAX2 is regulation of kidney development and kidney diseases / Ya Chuary, // Ya Chion. – 2011, Vol. 33, №3 – P. 231– 238.Boualia, SK. Vesicoureter Reflux and Other Urinary Tract Malformation in Mice Compaund / S.K. Boualia, Y. Gartan, I. Murawski // PRoS One. – 2011, Vol. 6, №6 –P. 215–224. 10. Chuary, Ya. The role of PAX2 is regulation of kidney development and kidney diseases / Ya Chuary, // Ya Chion. – 2011, Vol. 33, №3 – P. 231– 238.Афанасьев, Ю.И. Гистология, эмбриология, цитология. 6-е издание / Ю.И. Афанасьев, Н.А. Юрина. – М.: ГЭОТАР-Медиa, 2012. – 800 с.Афанасьев, Ю.И. Гистология, эмбриология, цитология. 6-е издание / Ю.И. Афанасьев, Н.А. Юрина. – М.: ГЭОТАР-Медиa, 2012. – 800 с.Zwolińska, D. Genetics of congenital anomalies of the kidney and urinary tract / D. Zwolińska, D. Polak-Jonkisz, I. Makulska // Postepy Hig Med Dosw. – 2011, Vol. 15, №65 – P. 829-837.Zwolińska, D. Genetics of congenital anomalies of the kidney and urinary tract / D. Zwolińska, D. Polak-Jonkisz, I. Makulska // Postepy Hig Med Dosw. – 2011, Vol. 15, №65 – P. 829-837.Uehling, D.T. Urologic implications of the VATER association / D.T. Uehling, E. Gilbert, R. Chesney // J Urol. – 1983, Vol. 129, P. 352–354.Uehling, D.T. Urologic implications of the VATER association / D.T. Uehling, E. Gilbert, R. Chesney // J Urol. – 1983, Vol. 129, P. 352–354.Solomon, B.D. VACTERL/VATER association / B.D. Solomon // Orphanet J Rare Dis. – 2011, Vol. 6, P. 6.Solomon, B.D. VACTERL/VATER association / B.D. Solomon // Orphanet J Rare Dis. – 2011, Vol. 6, P. 6.Atiyeh, B. Contralateral renal abnormalities in multicyctic-dysplastic kidney disease / B. Atiyeh, D. Husmann, M. Baum // J Pediatr. – 1992, Vol. 121, P. 65- 67.Atiyeh, B. Contralateral renal abnormalities in multicyctic-dysplastic kidney disease / B. Atiyeh, D. Husmann, M. Baum // J Pediatr. – 1992, Vol. 121, P. 65- 67.Decter, R. Renal duplication and fusion anomalies / R. Decter // Pediatr Clin North Am. – 1997, Vol. 44, P. 1323–1341.Decter, R. Renal duplication and fusion anomalies / R. Decter // Pediatr Clin North Am. – 1997, Vol. 44, P. 1323–1341.Atwell, J.D. Familial incidence of bifid and double ureters / J.D. Atwell, P.L. Cook, C. Howell // Arch Dis Child. – 1974, Vol. 49, P. 390–393.Atwell, J.D. Familial incidence of bifid and double ureters / J.D. Atwell, P.L. Cook, C. Howell // Arch Dis Child. – 1974, Vol. 49, P. 390–393.Williams, B. Pathophysiology and treatment of ureteropelvic junction obstruction / B. Williams, B. Tareen, M.I. Resnick // Curr Urol Rep. – 2007, Vol. 8, P. 111–117.Williams, B. Pathophysiology and treatment of ureteropelvic junction obstruction / B. Williams, B. Tareen, M.I. Resnick // Curr Urol Rep. – 2007, Vol. 8, P. 111–117.Aoki, Y. Id2 haploinsufficiency in mice leads to congenital hydronephrosis resembling that in humans / Y. Aoki, S. Mori, K. Kitajima // Genes Cells. – 2004, Vol. 9, P. 1287–1296.Aoki, Y. Id2 haploinsufficiency in mice leads to congenital hydronephrosis resembling that in humans / Y. Aoki, S. Mori, K. Kitajima // Genes Cells. – 2004, Vol. 9, P. 1287–1296.Kajbafzadeh, A.M. Smooth muscle cell apoptosis and defective neural development in congenital ureteropelvic junction obstruction / A.M. Kajbafzadeh, S. Payabvash, A.H. Salmasi // J Urol. – 2006, Vol. 176, P. 718–723.Kajbafzadeh, A.M. Smooth muscle cell apoptosis and defective neural development in congenital ureteropelvic junction obstruction / A.M. Kajbafzadeh, S. Payabvash, A.H. Salmasi // J Urol. – 2006, Vol. 176, P. 718–723.Blanc, T. Laparoscopic pyeloplasty in children with horseshoe kidney / T. Blanc, E. Koulouris, N. Botto // J Urol. – 2014, Vol. 191, P. 1097–1103.Blanc, T. Laparoscopic pyeloplasty in children with horseshoe kidney / T. Blanc, E. Koulouris, N. Botto // J Urol. – 2014, Vol. 191, P. 1097–1103.Quintero, R.A. In utero management of fetal lower urinary tract obstruction with a novel shunt: a landmark development in fetal therapy / R.A. Quintero, L.A. Gomez, L.A. Castro, C. Bermudez // J Matern Fetal Neonatal Med. – 2010, Vol.Quintero, R.A. In utero management of fetal lower urinary tract obstruction with a novel shunt: a landmark development in fetal therapy / R.A. Quintero, L.A. Gomez, L.A. Castro, C. Bermudez // J Matern Fetal Neonatal Med. – 2010, Vol., P. 806–812. 23. Tonni, G. Prune-belly syndrome: case series and review of the literatura regarding early prenatal diagnosis, epidemiology, genetic factors, treatment, and prognosis / G. Tonni, V. Ida, V. Alessandro, M.P. Bonasoni // Fetal Pediatr Pathol. – 2013, Vol. 31, P. 13–24., P. 806–812. 23. Tonni, G. Prune-belly syndrome: case series and review of the literatura regarding early prenatal diagnosis, epidemiology, genetic factors, treatment, and prognosis / G. Tonni, V. Ida, V. Alessandro, M.P. Bonasoni // Fetal Pediatr Pathol. – 2013, Vol. 31, P. 13–24.Granberg, C.F. Genetic basis of prune belly syndrome: Screening for HNF1β gene / C.F. Granberg, S.M. Harrison, D. Dajusta // J Urol. – 2012,Vol. 187, P. 272–278.Granberg, C.F. Genetic basis of prune belly syndrome: Screening for HNF1β gene / C.F. Granberg, S.M. Harrison, D. Dajusta // J Urol. – 2012,Vol. 187, P. 272–278.Yosypiv, I.V. Congenital anomalies of the kidney and urinary tract: a genetic disorder? / I.V. Yosypiv // Int J Nephrol. – 2012, Vol. 90, P. 83-90.Yosypiv, I.V. Congenital anomalies of the kidney and urinary tract: a genetic disorder? / I.V. Yosypiv // Int J Nephrol. – 2012, Vol. 90, P. 83-90.Opitz, J.M. Annals of morphology. Meckel on developmental pathology / J.M. Opitz, R. Schultka, L. Göbbel // Am J Med Genet. – 2006, Vol. 140A, P. 115– 128.Opitz, J.M. Annals of morphology. Meckel on developmental pathology / J.M. Opitz, R. Schultka, L. Göbbel // Am J Med Genet. – 2006, Vol. 140A, P. 115– 128.Joubert, M. Familial agenesis of the cerebellar vermis. A syndrome of episodic apnea, abnormal eye movements, ataxia, and retardation / M. Joubert, E. JeanJacques, J.P. Robb, F. Anderman // Neurology. – 1969, Vol. 19, P. 813–825.Joubert, M. Familial agenesis of the cerebellar vermis. A syndrome of episodic apnea, abnormal eye movements, ataxia, and retardation / M. Joubert, E. JeanJacques, J.P. Robb, F. Anderman // Neurology. – 1969, Vol. 19, P. 813–825.Dagoneau, N. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III / N. Dagoneau, M. Goulet, D. Geneviève, Y. Sznajer, J. Martinovic, S. Smithson, C. Huber, G. Baujat, E. Flori, L. Tecco, D. Cavalcanti, A.L. Delezoide, V. Serre, M. Le Merrer, A. Munnich, V. CormierDaire // Am J Hum Genet. – 2009, Vol . 84, №5 – P. 706-711Dagoneau, N. DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III / N. Dagoneau, M. Goulet, D. Geneviève, Y. Sznajer, J. Martinovic, S. Smithson, C. Huber, G. Baujat, E. Flori, L. Tecco, D. Cavalcanti, A.L. Delezoide, V. Serre, M. Le Merrer, A. Munnich, V. CormierDaire // Am J Hum Genet. – 2009, Vol . 84, №5 – P. 706-711Thiel, C. NEK1 mutations cause short-rib polydactyly syndrome type Majewski / Thiel, A. Giessl //Am J Hum Genet. – 2011, Vol. 88, P. 106–114.Thiel, C. NEK1 mutations cause short-rib polydactyly syndrome type Majewski / Thiel, A. Giessl //Am J Hum Genet. – 2011, Vol. 88, P. 106–114.Davis, E.E. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum / E.E. Davis, Q. Zhang, Q. Liu // Nat Genet. – 2011, Vol. 43, P. 189–196.Davis, E.E. TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum / E.E. Davis, Q. Zhang, Q. Liu // Nat Genet. – 2011, Vol. 43, P. 189–196.Green, J.S. The cardinal manifestations of Bardet–Biedl syndrome, a form of Laurence–Moon–Biedl syndrome / J.S. Green, P.S. Parfrey, J.D. Harnett // N Eng J Med. – 1989, Vol. 321, P. 1002–1009.Green, J.S. The cardinal manifestations of Bardet–Biedl syndrome, a form of Laurence–Moon–Biedl syndrome / J.S. Green, P.S. Parfrey, J.D. Harnett // N Eng J Med. – 1989, Vol. 321, P. 1002–1009.Ivemark, B.L. Familial dysplasia of kidneys, liver and pancreas: a probably genetically determined syndrome / B.L. Ivemark, V. Oldfelt, R. Zetterstrom // Acta Paediatr. – 1959, Vol. 48, P. 1–11.Ivemark, B.L. Familial dysplasia of kidneys, liver and pancreas: a probably genetically determined syndrome / B.L. Ivemark, V. Oldfelt, R. Zetterstrom // Acta Paediatr. – 1959, Vol. 48, P. 1–11.Frank, V. Mutations in NEK8 link multiple organ dysplasia with altered Hippo signaling and increased c-MYC expression / V. Frank, S. Habbig, M.P. Bartram // Hum Molec Genet. – 2013, Vol. 22, P. 2177–2185.Frank, V. Mutations in NEK8 link multiple organ dysplasia with altered Hippo signaling and increased c-MYC expression / V. Frank, S. Habbig, M.P. Bartram // Hum Molec Genet. – 2013, Vol. 22, P. 2177–2185.Uehling, D.T. Urologic implications of the VATER association / D.T. Uehling, E. Gilbert, R. Chesney // J Urol. – 1983, Vol. 129, P. 352–354.Uehling, D.T. Urologic implications of the VATER association / D.T. Uehling, E. Gilbert, R. Chesney // J Urol. – 1983, Vol. 129, P. 352–354.

The authors declare that there are no conflicts of interest present.