ДИАГНОСТИКА И ЛЕЧЕНИЕ ЛИМФАТИЧЕСКИХ МАЛЬФОРМАЦИЙ И ХИЛЕЗНЫХ ВЫПОТОВ У НОВОРОЖДЕННЫХ И ДЕТЕЙ ГРУДНОГО ВОЗРАСТА
Обзорная статья
Дата публикации: марта 28, 2024
Ключевые слова
лимфатическая мальформация
хилоторакс
хилоперитонеум
хилоторакс
хилоперитонеум
Как цитировать
Сулавко М. А., Гурская А. С., Дьяконова Е. Ю., Вершинина М. Г. ДИАГНОСТИКА И ЛЕЧЕНИЕ ЛИМФАТИЧЕСКИХ МАЛЬФОРМАЦИЙ И ХИЛЕЗНЫХ ВЫПОТОВ У НОВОРОЖДЕННЫХ И ДЕТЕЙ ГРУДНОГО ВОЗРАСТА // Кремлевская медицина. Клинический вестник. 2024. Т. № 1. С. 28-32.
Аннотация
Лимфатические мальформации являются достаточно редкими врожденными пороками развития лимфатических сосудов с недостаточно изученной этиологией. Согласно современным генетическим исследованиям, мутации, вызывающие патологию лимфатической системы, могут возникать на разных этапах лимфангиогенеза в процессе эмбрионального развития, формируя генетически неоднородные популяции клеток, что обуславливает широкий спектр клинических проявлений лимфатических мальформаций. Лечение лимфатических мальформаций в зависимости от типа, локализации и распространенности процесса может быть хирургическим, включающим в себя радикальное удаление и склерозирование, консервативным и комбинированным. Одним из тяжелых клинических проявлений генерализованной лимфатической мальформации является хилезный выпот в различные полости организма. Клинические рекомендации по проведению терапии данных состояний не представлены. Учитывая полиэтиологичность ЛМ, отсутствие четких рекомендаций по выбору тактики лечения, необходимо продолжение исследований с целью выработки диагностического протокола и клинических рекомендаций по лечению данной патологии. Анализ молекулярно-генетических механизмов, лежащих в основе лимфангиогенеза, имеет решающее значение для понимания патогенеза ЛМ и открывает новые возможности для разработки перспективных методов их лечения.Литература
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6. Ozeki M. Generalized Lymphatic Anomaly and Gorham–Stout Disease: Overview and Recent Insights // Adv Wound Care (New Rochelle). – 2019. – V. 8. – No. 6. – P. 230–245. doi: 10.1089/wound.2018.0850.
7. Adams D.M. Vascular anomalies diagnosis of complicated anomalies and new medical treatment options // Hematol. Oncol. Clin. N. Am. – 2019. – V. 33. – No. 3. – P. 455–470. doi: 10.1016/j.hoc.2019.01.011.
8. Zalles-Vidal C.R. et al. Chylous ascitesin a newborn with gastroschisis. Case report // Journal of Neonatal Surgery. – 2017. – V. 6. – No. 1. – P. 16. doi: 10.21699/jns.v6i1.428.
9. Albaghdady A. et al. Surgical management of congenital chylous ascites / Albaghdady A., El-Asmar Khaled
M., Moussa M., Abdelhay S. // Annals of Pediatric Surgery. – 2018. – V. 14 (2). – P. 56–59. doi: 10.1097/01.XPS.0000525972.33509.05.
10. Nosher J.L. et al. Vascular anomalies: A pictorial review of nomenclature, diagnosis and treatment // World J. Radiol. – 2014. – V. 6. – No. 9. – P. 677–692. doi: 10.4329/wjr.v6.i9.677.
11. Olive G. et al. The lymphatic vasculature in the 21st century: novel functional roles in homeostasis and disease // Cell. – 2020. – V. 182. – No. 2. – P. 270–296. doi: 10.1016/j.cell.2020.06.039.
12. Srinivasan R.S. et al. Lineage tracing demonstrates the venous origin of the mammalian lymphatic vasculature // Genes. Dev. – 2007. – V. 21. – No. 19. – P. 2422–2432. doi: 10.1101/gad.1588407.
13. Stanczuk L. et al. cKit lineage hemogenic endotheliumderived cells contribute to mesenteric lymphatic vessels // Cell. Rep. – 2015. – V. 10. – No. 10. – P. 1708–1721. doi: 10.1016/j.celrep.2015.02.026.
14. Butler M.G. et al. A novel VEGFR3 mutation causes Milroy disease // Am. J. Med. Genet. – 2007. – Part A. – No. 143A. – P. 1212–1217. doi: 10.1002/ajmg.a.31703.
15. Ghalamkarpour A. et al. Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2 // The Journal of pediatrics. – 2009. – V. 155. – No. 1. – P. 90–93. doi: 10.1016/j.jpeds.2009.02.023.
16. Alders M. et al. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome // Human genetics. – 2014. – V. 133. – P. 1161–1167. doi: 10.1007/s00439-014-1456-y.
17. Geng X. et al. Multiple mouse models of primary lymphedema exhibit distinct defects in lymphovenous valve development // Dev. Biol. – 2016. – V. 409. – No. 1. – P. 218–233. doi: 10.1016/j.ydbio.2015.10.022.
18. Bazigou E. et al. Integrin-alpha9 is required for fibronectin matrix assembly during lymphatic valve morphogenesis // Dev. Cell. – 2009. – No. 17. – P. 175–186. doi: 10.1016/j.devcel.2009.06.017.
19. Lutter S. et al. Smooth muscle-endothelial cell communication activates Reelin signaling and regulates lymphatic vessel formation // J. Cell Biol. – 2012. – 197 – No. 6. – P. 837–49. doi: 10.1083/jcb.201110132.
20. Nonomura K. et al. Mechanically activated ion channel PIEZO1 is required for lymphatic valve formation // Proc. Natl. Acad. Sci. USA. – 2018. – V. 115. – No. 50. – P. 12817–12822. doi: 10.1073/pnas.1817070115.
21. Сагоян Г.Б. и др. Спектр синдромов избыточного роста, связанных с мутацией PIK3CA. Обзор литературы // Российский журнал детской гематологии и онкологии. – 2022. – Т. 9. – № 1. – С. 29–44. [Sagoyan G.B. et al. A spectrum of overgrowth syndromes associated with the PIK3CA mutation. Literature review // Russian Journal of Pediatric Hematology and Oncology. – 2022. – V. 9. – No. 1. – P. 29–44. In Russian].
22. Principe D.R. et al. Massive adult cystic lymphangioma of the breast // Journal of surgical case reports. – 2019. – V. 2. – P. 1–3. doi: 10.1093/jscr/rjz027.
23. Guzoglu N. et al. Intraperitoneal extravasation from umbilical venous catheter in differential diagnosis of neonatal chylous ascites // Acta Paediatr. – 2010. – V. 99. – No. 9. – P.1284. doi: 10.1111/j.1651- 2227.2010.01893.x.
24. Mitsunaga T et al. Successful surgical treatment of two cases of congenital chylous ascites // J. Pediatr. Surg. – 2001. – V. 36. – No. 11. – P. 1717–1719. doi: 10.1053/jpsu.2001.27973.
25. Ghaffarpour N. et al. Surgical excision is the treatment of choice for cervical lymphatic malformations with mediastinal expansion // J. Pediatr. Surg. – 2018. – V. 53. – No. 9. – P. 1820–1824. doi: 10.1016/j. jpedsurg.2017.10.048.
26. Goswamy J. et al. Radiofrequency ablation in the treatment of paediatric microcystic lymphatic malformations // J. Laryngol. Otol. – 2013. – V. 127. – No. 3. – P. 279–284. doi: 10.1017/S0022215113000029.
27. Поляев Ю.А. и др., Малоинвазивные методы лечения лимфангиом у детей // Детская больница. – 2011. – № 3. – С. 8–12. [Polyaev Yu.A. et al. Minimally invasive methods in treating lymphangioma in children // Children hospital. 2011. – No. 3. – P. 8–12. In Russian].
28. Muller-Wille R. et al. Vascular anomalies (part II): interventional therapy of peripheral vascular malformations // Rofo. – 2018. doi : 10.1055/s-0044-101266.
29. Bhatia C. et al. Octreotide therapy: a new horizon in treatment of iatrogenic chyloperitoneum // Arch. Dis. Child. – 2001. – V. 85. – No. 3. – P. 234–235. doi: 10.1136/adc.85.3.234.
30. Karaca S. et al. Somatostatin treatment of a persistent chyloperitoneum following abdominal aortic Surgery // Journal of vascular surgery. – 2012. – V. 56. – P. 1409–1412. doi: 10.1016/j.jvs.2012.05.004.
31. Roehr C.C. et al. Somatostatin or octreotide as treatment options for chylothorax in young children: a systematic review // Intensive Care Med. – 2006. – V. 32. – No. 5. – P. 650–657. doi: 10.1007/s00134-006-0114-9.
32. Carlos A. et al. Is octreotide a risk factor in necrotizing enterocolitis? // Journal of Pediatric Surgery. – 2008. – V. 43. – P. 1209–1210. doi:10.1016/j.jpedsurg.2008.02.062.
33. Bhardwaj R. et al. Chylous ascites: a review of pathogenesis, diagnosis and treatment // J. Clin. Transl. Hepatol. – 2018. – V. 6. – No. 1. – P. 105–113. doi: 10.14218/JCTH.2017.00035.
34. Medford A. Pleural effusion // Postgrad. Med. J. – 2005. – No. 81. – P. 702–710. doi: 10.1136/pgmj.2005.035352.
35. Agarwal S. et al. Sirolimus efficacy in the treatment of critically ill infants with congenital primary chylous effusions // Pediatr. Blood Cancer. – 2022. – V. 69. – P. e29510. doi: 10.1002/pbc.29510.
36. Mizuno T. et al. Developmental pharmacokinetics of sirolimus: Implications for precision dosing in neonates and infants with complicated vascular anomalies // Pediatr. Blood Cancer. – 2017. – V. 64. – No. 8. doi: 10.1002/pbc.26470.
2. Sadick M. et al. Vascular Anomalies (Part I): Classification and diagnostics of vascular anomalies // Rofo. – 2018. – V. 190 – No. 9. – P. 825–835. doi : 10.1055/a-0620-8925.
3. ISSVA Classifi cation of Vascular Anomalies©. 2018 International Society for the Study of Vascular Anomalies Accessed. [Electronic resource]: http:// www.issva.org/classifi cation.
4. Broomhead I.W. Cystic hygroma of the neck // British journal of plastic surgery. – 1964. – V. 17. – P. 225–244. doi: 10.1016/s0007-1226(64)80039-4.
5. Донюш Е.К. и др. Опыт использования сиролимуса в лечении детей с сосудистыми аномалиями // Российский журнал детской гематологии и онкологии. – 2020. – Т. 7. – № 3. – С. 22–31. [Donyush E.K. et al. Experience of using sirolimus in the treatment of children with vascular anomalies // Russian Journal of Pediatric Hematology and Oncology. – 2020. – V. 7. – No. 3. – P. 22–31. In Russian].
6. Ozeki M. Generalized Lymphatic Anomaly and Gorham–Stout Disease: Overview and Recent Insights // Adv Wound Care (New Rochelle). – 2019. – V. 8. – No. 6. – P. 230–245. doi: 10.1089/wound.2018.0850.
7. Adams D.M. Vascular anomalies diagnosis of complicated anomalies and new medical treatment options // Hematol. Oncol. Clin. N. Am. – 2019. – V. 33. – No. 3. – P. 455–470. doi: 10.1016/j.hoc.2019.01.011.
8. Zalles-Vidal C.R. et al. Chylous ascitesin a newborn with gastroschisis. Case report // Journal of Neonatal Surgery. – 2017. – V. 6. – No. 1. – P. 16. doi: 10.21699/jns.v6i1.428.
9. Albaghdady A. et al. Surgical management of congenital chylous ascites / Albaghdady A., El-Asmar Khaled
M., Moussa M., Abdelhay S. // Annals of Pediatric Surgery. – 2018. – V. 14 (2). – P. 56–59. doi: 10.1097/01.XPS.0000525972.33509.05.
10. Nosher J.L. et al. Vascular anomalies: A pictorial review of nomenclature, diagnosis and treatment // World J. Radiol. – 2014. – V. 6. – No. 9. – P. 677–692. doi: 10.4329/wjr.v6.i9.677.
11. Olive G. et al. The lymphatic vasculature in the 21st century: novel functional roles in homeostasis and disease // Cell. – 2020. – V. 182. – No. 2. – P. 270–296. doi: 10.1016/j.cell.2020.06.039.
12. Srinivasan R.S. et al. Lineage tracing demonstrates the venous origin of the mammalian lymphatic vasculature // Genes. Dev. – 2007. – V. 21. – No. 19. – P. 2422–2432. doi: 10.1101/gad.1588407.
13. Stanczuk L. et al. cKit lineage hemogenic endotheliumderived cells contribute to mesenteric lymphatic vessels // Cell. Rep. – 2015. – V. 10. – No. 10. – P. 1708–1721. doi: 10.1016/j.celrep.2015.02.026.
14. Butler M.G. et al. A novel VEGFR3 mutation causes Milroy disease // Am. J. Med. Genet. – 2007. – Part A. – No. 143A. – P. 1212–1217. doi: 10.1002/ajmg.a.31703.
15. Ghalamkarpour A. et al. Sporadic in utero generalized edema caused by mutations in the lymphangiogenic genes VEGFR3 and FOXC2 // The Journal of pediatrics. – 2009. – V. 155. – No. 1. – P. 90–93. doi: 10.1016/j.jpeds.2009.02.023.
16. Alders M. et al. Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome // Human genetics. – 2014. – V. 133. – P. 1161–1167. doi: 10.1007/s00439-014-1456-y.
17. Geng X. et al. Multiple mouse models of primary lymphedema exhibit distinct defects in lymphovenous valve development // Dev. Biol. – 2016. – V. 409. – No. 1. – P. 218–233. doi: 10.1016/j.ydbio.2015.10.022.
18. Bazigou E. et al. Integrin-alpha9 is required for fibronectin matrix assembly during lymphatic valve morphogenesis // Dev. Cell. – 2009. – No. 17. – P. 175–186. doi: 10.1016/j.devcel.2009.06.017.
19. Lutter S. et al. Smooth muscle-endothelial cell communication activates Reelin signaling and regulates lymphatic vessel formation // J. Cell Biol. – 2012. – 197 – No. 6. – P. 837–49. doi: 10.1083/jcb.201110132.
20. Nonomura K. et al. Mechanically activated ion channel PIEZO1 is required for lymphatic valve formation // Proc. Natl. Acad. Sci. USA. – 2018. – V. 115. – No. 50. – P. 12817–12822. doi: 10.1073/pnas.1817070115.
21. Сагоян Г.Б. и др. Спектр синдромов избыточного роста, связанных с мутацией PIK3CA. Обзор литературы // Российский журнал детской гематологии и онкологии. – 2022. – Т. 9. – № 1. – С. 29–44. [Sagoyan G.B. et al. A spectrum of overgrowth syndromes associated with the PIK3CA mutation. Literature review // Russian Journal of Pediatric Hematology and Oncology. – 2022. – V. 9. – No. 1. – P. 29–44. In Russian].
22. Principe D.R. et al. Massive adult cystic lymphangioma of the breast // Journal of surgical case reports. – 2019. – V. 2. – P. 1–3. doi: 10.1093/jscr/rjz027.
23. Guzoglu N. et al. Intraperitoneal extravasation from umbilical venous catheter in differential diagnosis of neonatal chylous ascites // Acta Paediatr. – 2010. – V. 99. – No. 9. – P.1284. doi: 10.1111/j.1651- 2227.2010.01893.x.
24. Mitsunaga T et al. Successful surgical treatment of two cases of congenital chylous ascites // J. Pediatr. Surg. – 2001. – V. 36. – No. 11. – P. 1717–1719. doi: 10.1053/jpsu.2001.27973.
25. Ghaffarpour N. et al. Surgical excision is the treatment of choice for cervical lymphatic malformations with mediastinal expansion // J. Pediatr. Surg. – 2018. – V. 53. – No. 9. – P. 1820–1824. doi: 10.1016/j. jpedsurg.2017.10.048.
26. Goswamy J. et al. Radiofrequency ablation in the treatment of paediatric microcystic lymphatic malformations // J. Laryngol. Otol. – 2013. – V. 127. – No. 3. – P. 279–284. doi: 10.1017/S0022215113000029.
27. Поляев Ю.А. и др., Малоинвазивные методы лечения лимфангиом у детей // Детская больница. – 2011. – № 3. – С. 8–12. [Polyaev Yu.A. et al. Minimally invasive methods in treating lymphangioma in children // Children hospital. 2011. – No. 3. – P. 8–12. In Russian].
28. Muller-Wille R. et al. Vascular anomalies (part II): interventional therapy of peripheral vascular malformations // Rofo. – 2018. doi : 10.1055/s-0044-101266.
29. Bhatia C. et al. Octreotide therapy: a new horizon in treatment of iatrogenic chyloperitoneum // Arch. Dis. Child. – 2001. – V. 85. – No. 3. – P. 234–235. doi: 10.1136/adc.85.3.234.
30. Karaca S. et al. Somatostatin treatment of a persistent chyloperitoneum following abdominal aortic Surgery // Journal of vascular surgery. – 2012. – V. 56. – P. 1409–1412. doi: 10.1016/j.jvs.2012.05.004.
31. Roehr C.C. et al. Somatostatin or octreotide as treatment options for chylothorax in young children: a systematic review // Intensive Care Med. – 2006. – V. 32. – No. 5. – P. 650–657. doi: 10.1007/s00134-006-0114-9.
32. Carlos A. et al. Is octreotide a risk factor in necrotizing enterocolitis? // Journal of Pediatric Surgery. – 2008. – V. 43. – P. 1209–1210. doi:10.1016/j.jpedsurg.2008.02.062.
33. Bhardwaj R. et al. Chylous ascites: a review of pathogenesis, diagnosis and treatment // J. Clin. Transl. Hepatol. – 2018. – V. 6. – No. 1. – P. 105–113. doi: 10.14218/JCTH.2017.00035.
34. Medford A. Pleural effusion // Postgrad. Med. J. – 2005. – No. 81. – P. 702–710. doi: 10.1136/pgmj.2005.035352.
35. Agarwal S. et al. Sirolimus efficacy in the treatment of critically ill infants with congenital primary chylous effusions // Pediatr. Blood Cancer. – 2022. – V. 69. – P. e29510. doi: 10.1002/pbc.29510.
36. Mizuno T. et al. Developmental pharmacokinetics of sirolimus: Implications for precision dosing in neonates and infants with complicated vascular anomalies // Pediatr. Blood Cancer. – 2017. – V. 64. – No. 8. doi: 10.1002/pbc.26470.