nefrНефрологияNephrology (Saint-Petersburg)1561-62742541-9439Pavlov First Saint-Petersburg State Medical Universitynefr-31Research ArticleНАБЛЮДЕНИЯ ИЗ ПРАКТИКИPRACTICAL NOTESОсобенности патологии почек при синдроме Rubinstein-TaybiFeatures of pathology of kidneys at the syndrome Rubinstein-TaybiЛевиашвилиЖ. Г.LeviashviliZh. G.jannalevi@gmail.comАничковаИ. В.AnichkovaI. V.noemail@neicon.ruЛевиН. Л.LeviN. L.noemail@neicon.ruЛюбимоваО. В.LyubimovaO. V.noemail@neicon.ruЛебедевД. А.LebedevD. A.noemail@neicon.ruЛысенкоЛ. А.LysenkoL. A.noemail@neicon.ruСанкт-Петербургский государственный педиатрический медицинский университетRussian Federation2014010520141838995Copyright © Левиашвили Ж.Г., Аничкова И.В., Леви Н.Л., Любимова О.В., Лебедев Д.А., Лысенко Л.А., 20142014Левиашвили Ж.Г., Аничкова И.В., Леви Н.Л., Любимова О.В., Лебедев Д.А., Лысенко Л.А.Leviashvili Z.G., Anichkova I.V., Levi N.L., Lyubimova O.V., Lebedev D.A., Lysenko L.A.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nephrolog.ru/jour/article/view/31

В статье описаны клинические проявления патологии органов мочевой системы (врожденная аномалия развития почек: уретерогидронефроз двусторонний, ПМР IV-V; обструктивный пиелонефрит с прогрессированием в ХБП 3А ст) у пациентки 6 лет с синдромом Rubinstein-Taybi (RSTS). Обсуждена характерная для данного синдрома врожденная аномалия многих органов и систем.

The article described the clinical manifestation of pathologyof the urinary system(congenital anomaly ofthekidneys: ureterohydronephrosis bilateral, PMR IV-V; obstructive pyelonephritiswithprogressionin CKD to 3A of St)the patient of 6 years with Rubinstein-Taybi (RSTS) syndrome.

синдромом Rubinstein-Taybiаномалия развития почекдетиRubinstein-Taybicongenital anomaly of kidneyschildrenReferencesOMIM | # 180849 | Рубинштейн-TaybiСИНДРОМ 1; RSTS1 URL: http://www.omim.org/entry/180849OMIM | # 180849 | Рубинштейн-TaybiСИНДРОМ 1; RSTS1 URL: http://www.omim.org/entry/180849Van Belzen M, Bartsch O, Lacombe D, Peters DJ, Hennekam RC. Rubinstein-Taybi syndrome (CREBBP, EP300). Eur J Hum Genet 2011; 19(1): 121Van Belzen M, Bartsch O, Lacombe D, Peters DJ, Hennekam RC. Rubinstein-Taybi syndrome (CREBBP, EP300). Eur J Hum Genet 2011; 19(1): 121Stevens CA. Rubinstein-Taybi Syndrome. In: Pagon RA, Adam MP, Bird TD, et al., editors. Gene Reviews2002;1993-2013.Stevens CA. Rubinstein-Taybi Syndrome. In: Pagon RA, Adam MP, Bird TD, et al., editors. Gene Reviews2002;1993-2013.Hennekam RCM. Rubinstein-Taybi syndrome. European Journal of Human Genetics 2006;14: 981-985Hennekam RCM. Rubinstein-Taybi syndrome. European Journal of Human Genetics 2006;14: 981-985СазоновА.А. Основы генетики учебное пособие ISBN 2012;11:202-203СазоновА.А. Основы генетики учебное пособие ISBN 2012;11:202-203Левиашвили ЖГ, Папаян АВ, Савенкова НД. Синдромысочетанного поражения почек и других систем. В: Папаян АВ, Савенкова НД. Клиническая нефрология детского возраста руководство для врачей. СПб Левша 2008;5: 149-191Левиашвили ЖГ, Папаян АВ, Савенкова НД. Синдромысочетанного поражения почек и других систем. В: Папаян АВ, Савенкова НД. Клиническая нефрология детского возраста руководство для врачей. СПб Левша 2008;5: 149-191Hennekam RCM, Van den Boogaard M-J, Sibbles B J, Van Spijker H G. Rubinstein-Taybi syndrome in the Netherlands. Am J Med Genet Suppl 1990;6: 17-29Hennekam RCM, Van den Boogaard M-J, Sibbles B J, Van Spijker H G. Rubinstein-Taybi syndrome in the Netherlands. Am J Med Genet Suppl 1990;6: 17-29Yamamoto T, Kurosawa K, Masuno M, Okuzumi S, Kondo S, Miyama S, Okamoto N, Aida N, Nishimura G. Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome. Am J Med Genet 2005; 135:130-133Yamamoto T, Kurosawa K, Masuno M, Okuzumi S, Kondo S, Miyama S, Okamoto N, Aida N, Nishimura G. Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome. Am J Med Genet 2005; 135:130-133Bonioli E, Bellini C, Senes FM, Palmieri A, Di Stadio M, Pinelli G. Slipped capital femoral epiphysis associated with Rubinstein-Taybi syndrome. Clin Genet 1993;44: 79-81Bonioli E, Bellini C, Senes FM, Palmieri A, Di Stadio M, Pinelli G. Slipped capital femoral epiphysis associated with Rubinstein-Taybi syndrome. Clin Genet 1993;44: 79-81Stevens CA, Carey JC, Blackburn BL. Rubinstein-Taybi syndrome: a natural history study. Am J Med Genet Suppl 1990;6: 30-37Stevens CA, Carey JC, Blackburn BL. Rubinstein-Taybi syndrome: a natural history study. Am J Med Genet Suppl 1990;6: 30-37Bloch-Zupan A, Stachtou J, Emmanouil D, Arveiler B, Griffiths D, Lacombe D. Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome. Am J Med Genet 2007;143A: 570-573Bloch-Zupan A, Stachtou J, Emmanouil D, Arveiler B, Griffiths D, Lacombe D. Oro-dental features as useful diagnostic tool in Rubinstein-Taybi syndrome. Am J Med Genet 2007;143A: 570-573Gardner DG, Girgis SS. Talon cusps: a dental anomaly in the Rubinstein-Taybi syndrome. Oral Surg Oral Med Oral Path 1979;47: 519-521Gardner DG, Girgis SS. Talon cusps: a dental anomaly in the Rubinstein-Taybi syndrome. Oral Surg Oral Med Oral Path 1979;47: 519-521Davis PJ, Brook AH. The presentation of talon cusp: diagnosis, clinical features, associations and possible aetiology. Brit Dent J1986;160: 84-88Davis PJ, Brook AH. The presentation of talon cusp: diagnosis, clinical features, associations and possible aetiology. Brit Dent J1986;160: 84-88Limwongse C, Cassidy SB. Syndromes and malformations of the urinary tract. In Avner ED, Harmon WE, Niaudet P.Pediatric Nephrology5th edition Lippincott Wiliams and Wilkins 2003;6: 93-121Limwongse C, Cassidy SB. Syndromes and malformations of the urinary tract. In Avner ED, Harmon WE, Niaudet P.Pediatric Nephrology5th edition Lippincott Wiliams and Wilkins 2003;6: 93-121Limwongse C. Syndromes and Malformations of the Urinary Tract Pediatric NephrologyJournal of the International Pediatric Nephrology Association 2009;121-156Limwongse C. Syndromes and Malformations of the Urinary Tract Pediatric NephrologyJournal of the International Pediatric Nephrology Association 2009;121-156Sanna-Cherchi S, Caridi G, WengPL, ScolariF, Perfumo F, Gharavi AG, Ghiggeri GM. Genetic approaches to human renal agenesis/hypoplasia and dysplasia. Review Pediatric NephrologyJournal of the International Pediatric Nephrology Association 2007;10: 1000/s00467-007-0479-1Sanna-Cherchi S, Caridi G, WengPL, ScolariF, Perfumo F, Gharavi AG, Ghiggeri GM. Genetic approaches to human renal agenesis/hypoplasia and dysplasia. Review Pediatric NephrologyJournal of the International Pediatric Nephrology Association 2007;10: 1000/s00467-007-0479-1Winter RM, Baraitser M.A catalogue of multiple congenital anomaly syndromes. In Winter RM, Baraitser M.Multiple Congenital Anomalies A Diagnostic Compendium ISBN:1991; 1-672Winter RM, Baraitser M.A catalogue of multiple congenital anomaly syndromes. In Winter RM, Baraitser M.Multiple Congenital Anomalies A Diagnostic Compendium ISBN:1991; 1-672Levy NS. Juvenile glaucoma in the Rubinstein-Taybi syndrome. J Pediat Ophthal1976;13: 141-143Levy NS. Juvenile glaucoma in the Rubinstein-Taybi syndrome. J Pediat Ophthal1976;13: 141-143Guion-Almeida ML, Richieri-Costa A. Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome. Am J Med Genet 1992; 43: 929-931Guion-Almeida ML, Richieri-Costa A. Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome. Am J Med Genet 1992; 43: 929-931Stevens CA, Bhakta MG. Cardiac abnormalities in the Rubinstein-Taybi syndrome. Am J Med Genet 1995;59: 346-348Stevens CA, Bhakta MG. Cardiac abnormalities in the Rubinstein-Taybi syndrome. Am J Med Genet 1995;59: 346-348Kanjilal D, Basir MA, Verma RS, Rajegowda BK, Lala R, Nagaraj A. New dysmorphic features in Rubinstein-Taybi syndrome. J Med Genet 1992; 29: 669-670Kanjilal D, Basir MA, Verma RS, Rajegowda BK, Lala R, Nagaraj A. New dysmorphic features in Rubinstein-Taybi syndrome. J Med Genet 1992; 29: 669-670Чичко А. Функциональные шумы в сердце у детей. Мед вестн 2007;33:815-816Чичко А. Функциональные шумы в сердце у детей. Мед вестн 2007;33:815-816Stevens CA, Schmitt C, Speraw S. Behavior in Rubinstein-Taybi syndrome. Proc Gr Genet Ctr 1999;18:144-145Stevens CA, Schmitt C, Speraw S. Behavior in Rubinstein-Taybi syndrome. Proc Gr Genet Ctr 1999;18:144-145Miller RW, Rubinstein JH. Tumors in Rubinstein-Taybi syndrome. Am J Med Genet 1995;56: 112-115Miller RW, Rubinstein JH. Tumors in Rubinstein-Taybi syndrome. Am J Med Genet 1995;56: 112-115Bonioli E, Bellini C. Rubinstein-Taybi syndrome and pheochromocytoma. Am J Med Genet 1992. 44: 386Bonioli E, Bellini C. Rubinstein-Taybi syndrome and pheochromocytoma. Am J Med Genet 1992. 44: 386Naimi DR, Munoz J, Rubinstein J, Hostoffer RW, Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections. Allergy Asthma Proc 2006;27: 281-284Naimi DR, Munoz J, Rubinstein J, Hostoffer RW, Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections. Allergy Asthma Proc 2006;27: 281-284Zimmerman N, Acosta AMBF, Kohlhase J, Bartsch O. Confirmation of EP300 gene mutation as a rare cause of Rubinstein-Taybi syndrome. Eur J Hum Genet 2007;15:837-842Zimmerman N, Acosta AMBF, Kohlhase J, Bartsch O. Confirmation of EP300 gene mutation as a rare cause of Rubinstein-Taybi syndrome. Eur J Hum Genet 2007;15:837-842Bartsch O, Labonte J, Albrecht B, Wieczorek D, Lechno S, Zechner U, Haaf T. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. Am J Med Genet 2010; 152A: 181-184Bartsch O, Labonte J, Albrecht B, Wieczorek D, Lechno S, Zechner U, Haaf T. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome. Am J Med Genet 2010; 152A: 181-184Roelfsema JH, White SJ, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen G-J B, Breuning MH, Hennekam RC, Peters DJM. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP andRoelfsema JH, White SJ, Ariyurek Y, Bartholdi D, Niedrist D, Papadia F, Bacino CA, den Dunnen JT, van Ommen G-J B, Breuning MH, Hennekam RC, Peters DJM. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP andEP300 genes cause disease. Am J Hum Genet 2005;76: 572-580EP300 genes cause disease. Am J Hum Genet 2005;76: 572-580Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A, Peters DJM. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet 2007;44: 327-333Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A, Peters DJM. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet 2007;44: 327-333Bonioli E, Bellini C. Inheritance of Rubinstein-Taybi syndrome. Am J Med Genet 1989; 32: 559Bonioli E, Bellini C. Inheritance of Rubinstein-Taybi syndrome. Am J Med Genet 1989; 32: 559Roelfsema JH, Peters DJM. Rubinstein-Taybi syndrome: clinical and molecular overview. Expert Rev Mol Med 2007;9:1-16Roelfsema JH, Peters DJM. Rubinstein-Taybi syndrome: clinical and molecular overview. Expert Rev Mol Med 2007;9:1-16Bartsch O, Locher K, Meinecke P, Kress W, Seemanova E, Wagner A, Ostermann K, Rodel G. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. J Med Genet 2002;39: 496-501Bartsch O, Locher K, Meinecke P, Kress W, Seemanova E, Wagner A, Ostermann K, Rodel G. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. J Med Genet 2002;39: 496-501Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A 2003;119A:101-110Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A 2003;119A:101-110

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