Drave sindromi –bu hayotning birinchi yilida namoyon bo'ladigan, erta boshlangan, rivojlanish va epileptik ensefalopatiya. Taqdimot odatda istma bilan bog'liq bo'lgan uzoq davom etadigan miyoklonik va atonik-astatik xurujlar bilan namoyon bo'ladi. Bolalarda xurujlar boshlanishidan oldin psixomotor rivojlanishi yoshiga mos, ammo 18 oyligidan boshlab sekinlasha boshlaydi va vaqt o'tishi bilan nutq, harakatchanlik va ovqatlanishning buzilishi rivojlanadi. Bemorlarning uncha ko’p bo’lmagan qismida (10-15%) SCN1B natriy kanali genida mutatsiyaga ega, ammo SCN1B mutatsiyalari epilepsiyaning kamroq og'ir shakllari, masalan, febril tutqanoqli generallashgan epilepsiya (GEFS) bilan bog'liq bo'lishi ham mumkin. Ushbu ko'rib chiqishning maqsadi Drave sindromida tutqanoqni davolashda qaysi antiepileptic preparatlar (monoterapiya yoki qo'shimcha) samarali ekanligini aniqlashdir.
Drave sindromi –bu hayotning birinchi yilida namoyon bo'ladigan, erta boshlangan, rivojlanish va epileptik ensefalopatiya. Taqdimot odatda istma bilan bog'liq bo'lgan uzoq davom etadigan miyoklonik va atonik-astatik xurujlar bilan namoyon bo'ladi. Bolalarda xurujlar boshlanishidan oldin psixomotor rivojlanishi yoshiga mos, ammo 18 oyligidan boshlab sekinlasha boshlaydi va vaqt o'tishi bilan nutq, harakatchanlik va ovqatlanishning buzilishi rivojlanadi. Bemorlarning uncha ko’p bo’lmagan qismida (10-15%) SCN1B natriy kanali genida mutatsiyaga ega, ammo SCN1B mutatsiyalari epilepsiyaning kamroq og'ir shakllari, masalan, febril tutqanoqli generallashgan epilepsiya (GEFS) bilan bog'liq bo'lishi ham mumkin. Ushbu ko'rib chiqishning maqsadi Drave sindromida tutqanoqni davolashda qaysi antiepileptic preparatlar (monoterapiya yoki qo'shimcha) samarali ekanligini aniqlashdir.
№ | Author name | position | Name of organisation |
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1 | Gulyamova D.N. | ! | Tibbiyot xodimlarining kasbiy malakasini rivojlantirish markazi |
2 | Jabborov J.E. | ! | Tibbiyot xodimlarining kasbiy malakasini rivojlantirish markazi |
3 | Bozorov E.Z. | ! | Tibbiyot xodimlarining kasbiy malakasini rivojlantirish markazi |
№ | Name of reference |
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1 | 1.HuoMingju, NiuVenbin.Xu Jiawei,Shi Hao,Liu Yidong,ChjanYile. Genetics Analysis of patients with Dravet syndrome due to mosaicism variation of paternal SCN1A gene. Xitoytibbiyotjurnali.2021 2.ChjuDandan. Analysis ofSCN1Agene variants among patients with Dravet syndrome. Xitoytibbiygenetikajurnali. 2021.3.Ingrid E. Scheffer. The fascinating phenotypic spectrum ofSCN1Again-of-function epilepsies. Epilepsia. 2023.4.Andreas Brunklaus,Juanjiangmeng Du,Feliks Stekler,Ismoil I. Ghanti,Katrin M. Yoxannesen,Kristina DyuringFenger,Stefani Shorj,Devid Baez-Nieto,Hao-Ran Vang,Endryu Allen. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia. 2020 year5.LyusiDeng,MargiDanchin,JorjinaLyuis,Abigayl Cheung,AnitaJempbell, UshmaVadiya, KristEv,Nikolay Vud.Revaccination outcomes of children with vaccine proximate seizures. Vaccine. 2021 year6.Dora Steel,Jozef D. Symonds,Samir M. Zuberi,Andreas Brunklaus. Dravet syndrome and its mimics: BeyondSCN1A Epilepsia.2017 year.7.Zhang Yuehua.Strategies of diagnosis and treatment of Dravet syndrome.Chinese Journal of Pediatrics.2023 year.8.National Guideline Alliance (UK).Effectiveness of antiseizure therapies in the treatment of Dravet syndrome: Epilepsies in children, young people and adults. National Institute for Health and Care Excellence (NICE);2022 year.9.KazuxiroYamakava,Miriam X. Meysler,Lori L. Isom, Jeffri L. Noebels,Massimo Avoli, Maykl A. Rogawski,Annamaria Vezzani,Antonio V. Delgado-Eskueta. Sodium Channelopathies in Human and Animal Models of Epilepsy and Neurodevelopmental Disorders. New York: Oxford University Press; 2024year.10.Leonardo B Sileniks,Nikol K Kerroll,Van Niekerknitahlilqiling,Emili Van Nikerk,KollinTeylor,Neil Upton,Guy A Xiggins. Evaluation of Selective 5-HT2CAgonists in Acute Seizure Models. ACS Chemical Neuroscience. 2019 year.11.Bingwei Peng,Xayxia Chju,Yang Tyan,Xiaojing Li,Xiuying Vang,Yuanyuan Gao,Yani Chjan,Huiling Shen,Wenxiong Chen. Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy. Xitoy tibbiy genetika jurnali. 2024 year.12.Белоусова Э.Д.,Н.Н. Заваденко,А.А. Холин,А.А. Шарков. Новые классификации эпилепсий и типов припадков, созданные Международной лигой по борьбе с эпилепсией (2017). Журнал неврологии и психиатрии имени С.С. Корсакова. 2017. |