Clinical case of delayed diagnosis of tuberous sclerosis


Citar

Texto integral

Acesso aberto Acesso aberto
Acesso é fechado Acesso está concedido
Acesso é fechado Acesso é pago ou somente para assinantes

Resumo

A clinical case of successful drug treatment of multiple renal angiomyolipomas in patient with tuberous sclerosis is presented, which suggests potential role of medical treatment of benign kidney tumors.

Texto integral

Acesso é fechado

Sobre autores

Yu. Alyaev

FGAOU VO I.M. Sechenov First Moscow State Medical University

Email: ugalyaev@mail.ru
corresponding member of RAS, MD, professor at the Institute of Urology and Reproductive Health Moscow, Russia

E. Shpot

FGAOU VO I.M. Sechenov First Moscow State Medical University

Email: shpot@inbox.ru
MD, professor, head of the oncourological Department at the Institute of Urology and Reproductive Health Moscow, Russia

G. Akopyan

FGAOU VO I.M. Sechenov First Moscow State Medical University

Email: docgagik@mail.ru
MD, professor at the Institute of Urology and Reproductive Health Moscow, Russia

K. Goryacheva

FGAOU VO I.M. Sechenov First Moscow State Medical University

Email: imago27@yandex.ru
urologist at the therapeutic and diagnostic department No5 of University Clinic №2 Moscow, Russia

D. Chinenov

FGAOU VO I.M. Sechenov First Moscow State Medical University

Email: chinenovdv@rambler.ru
Ph.D., associate professor, urologist at the Institute of Urology and Reproductive Health Moscow, Russia

Z. Gadzhieva

FGAOU VO I.M. Sechenov First Moscow State Medical University

Email: zgadzhieva@ooorou.ru
MD, urologist at the UKB №2 Moscow, Russia

M. Kodzokov

FGAOU VO I.M. Sechenov First Moscow State Medical University

Email: kodzokov-m@mail.ru
Ph.D. student at the Institute of Urology and Reproductive Health Moscow, Russia

A. Damiev

FGAOU VO I.M. Sechenov First Moscow State Medical University

Email: farzongul@mail.ru
resident at the Institute of Urology and Reproductive Health Moscow, Russia

P. Geleje

GBUZ “Scientific and Practical Clinical Center of Diagnostics and Telemedical Technologies of the Moscow Health Department”

Email: gelezhe.pavel@gmail.com
researcher, radiologist Moscow, Russia

Bibliografia

  1. Henske E.P., McCormack F.X. Lymphangioleiomyomatosis - a wolf in sheep’s clothing. J Clin Invest. 2012; 122(11):3807-16. Doi: 10.1172/ JCI58709.
  2. Johnson S.R., Cordier J.F., Lazor R., et al. Review Panel of the ERS LAM Task Force. European Respiratory Society guidelines for the diagnosis and management of lymphangioleiomyomatosis. Eur Respir J. 2010;35(1):14- 26. doi: 10.1183/09031936.00076209.
  3. Туберозный склероз. Диагностика и лечение. Под ред. М.Ю. Дорофеевой. М: АДАРЕ 2017; 288.
  4. Волгина С.Я., Юров И.Ю., Белогурова М.Б., Белоусова Е.Д., Вахитов Х.М., Воинова В.Ю. и др. Редкие болезни у детей. Под общ. ред. С.Я. Волгиной, И.Ю. Юрова. Казань: Медицина 2018; 206).
  5. Krueger D.A., Northrup H. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 2013;49:255- 265. doi: 10.1016/j.pediatrneurol.2013.08.002.
  6. Дорофеева М.Ю., Белоусова Е.Д., Пивоварова А.М. Рекомендации по диагностике и лечению туберозного склероза. Журнал неврологии и психиатрии им. С.С. Корсакова 2014;114(3):58-74).
  7. Krueger D.A., Northrup H. Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 2013;49: 255- 265. doi: 10.1016/j.pediatrneurol.2013.08.002.
  8. Bissler J. J Urol 2015;193(4S):e763.
  9. Henske E.P., Jozwiak S., Kingswood J. C. et al. Tuberous sclerosis complex. Nature Reviews Disease Primers. 2016;2:16035.
  10. Au K.S., Williams A.T., Gambello M.J. Molecular genetic basis of tuberous sclerosis complex: from bench to bedside. Children Neuroljgy. 2004;19:699-709.
  11. Fleury P., de Groot W.P., Delleman J.W. Tuberous sclerosis: the incidence of sporadic cases versus familial cases. Brain Dev. 2002;2:107-117.
  12. Osborne J.P., Fryer A., Webb D. Epidemiology of tuberous sclerosis. Ann N.Y. Acad Sci. 1991;615:125-127. doi: 10.1111/j.1749-6632.1991. tb37754.x.
  13. Sampson J.R., Yates J.R., Pirrit L.A. Evidence for genetic heterogeneity in tuberous sclerosis. Med. Genet. 1989;26:511-516.
  14. Туберозный склероз. Диагностика и лечение. Под ред. М.Ю. Дорофеевой. М: АДАРЕ 2017; 288).
  15. Белоусова Е.Д., Влодавец Д.В., Пивоварова А.М., Катышева О.В., Дорофеева М.Ю. Таргетная терапия туберозного склероза. Рогсийский вестник перинатологии и педиатрии. 2016;61(5):106-112. doi: 10.21508/1027-4065-2016-61-5-106-112)
  16. Huang J., Manning B.D. The TSC1-TSC2 complex: a molecular switchboard controlling cell growth. Biochem J 2008;412:179-190. Doi: 10.1042/ BJ20080281.
  17. Curatolo P., Bombardieri R., Jozwiak S. Tuberous sclerosis. Lancet 2008;372:657-668. doi: 10.1016/S0140-6736(08)61279-9.
  18. Randle S.C. Tuberous Sclerosis Complex: A Review. Pediatric Annals. 2017;46(4):e166-e171. doi: 10.3928/19382359-20170320-01
  19. Mills J.D., Iyer A.M., van Scheppingen J., Bongaarts A., Anink J.J., Janssen B. et al. Coding and small non-coding transcriptional landscape of tuberous sclerosis complex cortical tubers: implications for pathophysiology and treatment. Sci Rep. 2017;7(1):8089. doi: 10.1038/s41598-017-06145-8.
  20. Johnson S.R., Taveira-DaSilva A.M., Moss J. Lymphangioleiomyomatosis.Clin Chest Med. 2016;37(3):389-403. doi: 10.1016/j.ccm. 2016.04.002.

Arquivos suplementares

Arquivos suplementares
Ação
1. JATS XML

Declaração de direitos autorais © Bionika Media, 2019

Este site utiliza cookies

Ao continuar usando nosso site, você concorda com o procedimento de cookies que mantêm o site funcionando normalmente.

Informação sobre cookies