ЭТРОФИЯ МОЧЕВОГО ПУЗЫРЯ: СОВРЕМЕННЫЕ ПОДХОДЫ К ЛЕЧЕНИЮ
Обзорная статья
Дата публикации: июня 7, 2024
Ключевые слова
экстрофия
эписпадия
эписпадия
Как цитировать
Артеменко А. В., Козырев Г. В., Даренков С. П., Манашерова Д. Т. ЭТРОФИЯ МОЧЕВОГО ПУЗЫРЯ: СОВРЕМЕННЫЕ ПОДХОДЫ К ЛЕЧЕНИЮ // Кремлевская медицина. Клинический вестник. 2024. Т. № 2. С. 105-109.
Аннотация
Комплекс экстрофии мочевого пузыря и эписпадии представляет собой порок развития, включающий спектр врожденных аномалий мочеполовой системы, брюшной стенки, таза, мочевыводящих путей, гениталий, ануса и позвоночника. Сложная природа этого порока развития приводит к постоянным исследованиям фундаментальных научных концепций. Разъяснение этих концепций может помочь понять механизмы, лежащие в основе заболевания. Усовершенствование диагностики, тактики лечения в конечном итоге будет способствовать улучшению качества жизни пациента. В обзоре представлены современные знания об этом многофакторном заболевании, включая его фенотипические и анатомические характеристики, эпидемиологию, предлагаемые механизмы развития, существующие модели на животных и связанные с ними генетические и морфологические компоненты.Литература
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31. Stec A.A. et al. Evaluation of the bony pelvis in classic bladder exstrophy by using 3D-CT: further insights // Urology. – 2001. – V. 58. – No 6. – P. 1030–1035. DOI: 10.1016/s0090-4295(01)01355-3.
32. Dunn E.A. et al. Anatomy of classic bladder exstrophy: MRI findings and surgical correlation // Curr. Urol. Rep. – 2019. – V. 20. – No 9. – P. 48. DOI: 10.1007/s11934-019-0916-2.
33. Kureel S.N. et al. Surgical anatomy of penis in exstrophy-epispadias: a study of arrangement of fascial planes and superficial vessels of surgical significance // Urology. – 2013. – V. 82. – No 4. – P. 910–916. DOI: 10.1016/j.urology.2013.04.041.
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35. Suson K.D. Bony abnormalities in classic bladder exstrophy: the urologist’s perspective // J. Pediatr. Urol. – 2013. – V. 9. – No 2. – P. 112–122. DOI: 10.1016/j.jpurol.2011.08.007.
36. Atala A. Tissue-engineered autologous bladders for patients needing cystoplasty // Lancet. – 2006. – V. 367. – No 9518. – P. 1241–1246. DOI: 10.1016/S0140-6736(06)68438-9.
37. Joseph D.B. et al. Autologous cell seeded biodegradable scaffold for augmentation cystoplasty: phase II study in children and adolescents with spina bifida // J. Urol. – 201. – V. 191. – No 5. – P. 1389–95. DOI: 10.1016/j.juro.2013.10.103.
2. Hall S.A. et al. New insights on the basic science of bladder exstrophy-epispadias complex // Urology. – 2021. – Т. 147. – С. 256–263.
3. Ludwig M. et al. Bladder exstrophy-epispadias complex // Birth Defects. Res. Part A. – 2009. – V. 85. – P. 509–522.
4. Draaken M. et al. Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy // PLOS Genet. 2015. – V. 11. – P. e1005024.
5. Wilkins S. et al. Insertion/deletion polymorphisms in the DNp63 promoter are a risk factor for bladder exstrophy epispadias complex // PLoS Genet. – 2012. – V. 8. – P. e1003070.
6. Cheng W. et al. Np63 plays an anti-apoptotic role in ventral bladder development // Development. – 2006. – V. 133. – P. 4783–4792.
7. Mahfuz I. et al. New insights into the pathogenesis of bladder exstrophy-epispadias complex // J. Pediatr. Urol. 2013. – V. 9. – P. 996–1005.
8.. Ihrie R.A. et al. Perp is a p63-regulated gene essential for epithelial integrity // Cell. – 2005. – V. 120. – No 6. – P. 843–856. DOI: 10.1016/j.cell.2005.01.008. PMID: 15797384.
9. Lundin J. et al. Further support linking the 22q11.2 microduplication to an increased risk of bladder exstrophy and highlighting LZTR1 as a candidate gene // Mol. Genet. Genomic. Med. – 2019. – V. 7. – No 6. – P. e666. DOI: 10.1002/mgg3.666.
10. Nacak T.G. et al. The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis // J. Biol. Chem. – 2006. – V. 281. – No 8. – P. 5065–5071. DOI: 10.1074/jbc.M509073200.
11. Draaken M. et al. Genome-wide association study and meta-analysis identify ISL1 as genome-wide significant susceptibility gene for bladder exstrophy // PLoS Genet. – 2015. – V. 11. – No 3. –P. e1005024. DOI: 10.1371/journal.pgen.1005024.
12. Ching S.T. et al. Isl1 mediates mesenchymal expansion in the developing external genitalia via regulation of Bmp4, Fgf10 and Wnt5a // Hum. Mol. Genet. 2018. – V. 27. – No 1. – P. 107–119. DOI: 10.1093/hmg/ddx388.
13. Bruch S.W. et al. Challenging the embryogenesis of cloacal exstrophy // J. Pediatr. Surg. 1996. – V. 31. – No 6. – P. 768–770. DOI: 10.1016/s0022-3468(96)90128-1.
14. Muecke E.C. The role of the cloacae membrane in exstrophy: the first successful experimental study // J. Urol. – 1964. – V. 92. – P. 659–667. DOI: 10.1016/S0022-5347(17)64028-X.
15. Thomalla J.V. et al. Induction of cloacal exstrophy in the chick embryo using the CO2 laser // J. Urol. – 1985. – 134. – V. 5. – P. 991–995. DOI: 10.1016/s0022-5347(17)47573-2.
16. Mildenberger H. et al. Embryology of bladder exstrophy // J. Pediatr. Surg. – 1988. – V. 23. – No 2. – P. 166–170. DOI: 10.1016/s0022-3468(88)80150-7.
17. Stephens F.D. et al. Differences in embryogenesis of epispadias, exstrophy-epispadias complex and hypospadias // J. Pediatr. Urol. – 2005. – V. 1. – No 4. – P. 283–288. DOI: 10.1016/j.jpurol.2005.01.008.
18. K V S.K. et al. Pathogenesis of bladder exstrophy: a new hypothesis // J. Pediatr. Urol. – 2015. – V. 11. – No 6. – P. 314–318. DOI: 10.1016/j.jpurol.2015.05.030.
19. Stec A.A. et al. Fetal bony pelvis in the bladder exstrophy complex: normal potential for growth? // Urology. – 2003. – V. 62. – No 2. – P. 337–341. DOI: 10.1016/s0090-4295(03)00474-6.
20. Jayman J. et al. The surgical management of bladder polyps in the setting of exstrophy epispadias complex // Urology. – 2017. – V. 109. – P. 171–174. DOI: 10.1016/j.urology.2017.06.023.
21. Rubenwolf P.C. et al. Expression and potential clinical significance of urothelial cytodifferentiation markers in the exstrophic bladder // J. Urol. – 2012. – V. 187. – No 5. – P. 1806–1811. DOI: 10.1016/j.juro.2011.12.094.
22. Rubenwolf P.C. et al. Persistent histological changes in the exstrophic bladder after primary closure-a cause for concern? // J. Urol. – 2013. – V. 189. – No 2. – P. 671–677. DOI: 10.1016/j.juro.2012.08.210.
23. Kasprenski M. et al. Urothelial Differences in the Exstrophy-Epispadias Complex: potential Implications for Management // J. Urol. – 2021. – V. 205. – No 5. – P. 1460–1465. DOI: 10.1097/JU.0000000000001510.
24. Aboushwareb T. et al. Alterations in bladder function associated with urothelial defects in uroplakin II and IIIa knockout mice // Neurourol Urodyn. – 2009. – V. 28. – No 8. – P. 1028–1033. DOI: 10.1002/nau.20688.
25. Suson K.D. et al. Initial characterization of exstrophy bladder smooth muscle cells in culture // J. Urol. – 2012. – V. 188 (4 Suppl). – P. 1521–1527. DOI: 10.1016/j.juro.2012.02.028.
26. Johal N.S. et al. Functional, histological and molecular characteristics of human exstrophy detrusor // J. Pediatr. Urol. – 2019. – V. 15. – No 2. – P. 154.e1–154.e9. DOI: 10.1016/j.jpurol.2018.12.004.
27. Johal N.S. et al. Functional, histological and molecular characteristics of human exstrophy detrusor // J. Pediatr. Urol. – 2019. – V. 15. – No 2. – P. 154.e1–154.e9. DOI: 10.1016/j.jpurol.2018.12.004.
28. Lee B.R. et al. Evaluation of smooth muscle and collagen subtypes in normal newborns and those with bladder exstrophy // J. Urol. – 1996. – V. 156. – No 6. – P. 2034–2036.
29. Shabaninia M. et al. Autophagy, apoptosis, and cell proliferation in exstrophy-epispadias complex // Urology. – 2018. – V. 111. – P. 157–161. DOI: 10.1016/j.urology.2017.09.015.
30. Sponseller P.D. et al. The anatomy of the pelvis in the exstrophy complex // J. Bone. Joint. Surg. Am. – 1995. – V. 77. – No 2. – P. 177–189. DOI: 10.2106/00004623-199502000-00003.
31. Stec A.A. et al. Evaluation of the bony pelvis in classic bladder exstrophy by using 3D-CT: further insights // Urology. – 2001. – V. 58. – No 6. – P. 1030–1035. DOI: 10.1016/s0090-4295(01)01355-3.
32. Dunn E.A. et al. Anatomy of classic bladder exstrophy: MRI findings and surgical correlation // Curr. Urol. Rep. – 2019. – V. 20. – No 9. – P. 48. DOI: 10.1007/s11934-019-0916-2.
33. Kureel S.N. et al. Surgical anatomy of penis in exstrophy-epispadias: a study of arrangement of fascial planes and superficial vessels of surgical significance // Urology. – 2013. – V. 82. – No 4. – P. 910–916. DOI: 10.1016/j.urology.2013.04.041.
34. Novak T.E. et al. Polyps in the exstrophic bladder. A cause for concern? // J. Urol. – 2005. – V. 174. – No 4 (Pt 2). P. 1522–1526. DOI: 10.1097/01.ju.0000179240.25781.1b.
35. Suson K.D. Bony abnormalities in classic bladder exstrophy: the urologist’s perspective // J. Pediatr. Urol. – 2013. – V. 9. – No 2. – P. 112–122. DOI: 10.1016/j.jpurol.2011.08.007.
36. Atala A. Tissue-engineered autologous bladders for patients needing cystoplasty // Lancet. – 2006. – V. 367. – No 9518. – P. 1241–1246. DOI: 10.1016/S0140-6736(06)68438-9.
37. Joseph D.B. et al. Autologous cell seeded biodegradable scaffold for augmentation cystoplasty: phase II study in children and adolescents with spina bifida // J. Urol. – 201. – V. 191. – No 5. – P. 1389–95. DOI: 10.1016/j.juro.2013.10.103.