VISKOTT ALDRICH SINDROMI. KASALLIKNING QISQACHA TAVSIFI. KLINIK KUZATUV
Abstrakt
Tadqiqot maqsadi. Viskott-Aldrich sindromi bilan og'rigan bemorning klinik holatini tavsiflash.
Materiallar va metodlar. Ushbu tadqiqotda biz 2007 yilda tug'ilgan o'g'il bolada Viskott-Aldrich sindromi shaklida namoyon bo'lgan birlamchi immunitet tanqisligi klinik ko'rinishini keltiramiz. Bola bolalar gematologiya, onkologiya va klinik immunologiya markazida gematolog va immunolog shifokor nazoratidadir.
Natijalar va muhokamalar. Bolada uning og'ir ahvoli, og'ir intoksikatsiya, gepatosplenomegaliya, tana terisida petechial toshmalar, gemorragik sindrom, qonda kelib chiqishi noma'lum anemiya kabi keng ko'lamli klinik va laboratoriya belgilari mavjud edi. Shuningdek, leykotsitoz, EChT oshishi, trombotsitopeniya holati kuzatildi. Yuqoridagi barcha ko'rsatkichlar va ma'lumotlarni hisobga olgan holda bolaga Birlamchi immunitet tanqisligi, Wiskott-Aldrich sindromi tashxisi qo'yildi .
Xulosa. Ushbu klinik keysga asoslanib, kasalliknig klinik ko'rinishi, shu jumladan ushbu unig belgilari xarakterli triadasi juda o'ziga xos ekanligiga ishonch hosil qilish mumkin. Bu esa shifokorlarga boshqa kasalliklar bilan differentsial tashxis qo'yishda yordam beradi.
Mualliflar haqida
Adabiyotlar ro'yxati
Primаry immunodеficiency diseases. Rеport of an IUIS Scientifiс Сommittee. International Union of Immunological Societies. Clin Exp Immunol. 2017; 118(Suppl. 1):1-28.
Bouma G, Burns SO, Thrasher AJ. Wiskott-Aldrich syndrome: immunodeficiency resulting from defective cell migration and impaired immunostimulatory activation. Immunobiology. 2019;214(9-10):778-90. DOI: https://doi.org/10.1016/j.imbio.2009.06.009
Liu DW, Zhang ZY, Zhao Q, Jiang LP, Liu W, Tu WW, et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia in China: clinical characteristic and genotype-phenotype correlation. Pediatr Blood Cancer. 2015;62(9):1601-8. DOI: https://doi.org/10.1002/pbc.25559
Moratto D, Giliani S, Notarangelo LD, Mazza C, Mazzolari E, Notarangelo LD. The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment. Expert Rev Clin Immunol. 2017;3(5):813-24. DOI: https://doi.org/10.1586/1744666X.3.5.813
Пащенко ОЕ, Кондратенко ИВ, Бологов АА. Аутоиммунные проявления при синдроме Вискотта-Олдрича. Детская больница. 2014;3(57):14-21. / Pashchenko OE, Kondratenko IV, Bologov AA. Autoimmune manifestations in the patients with Wiscott-Auldrich syndrome. Detskaya bol'nitsa. 2014;3(57):14-21. (In Russian).
Albert MH, Bittner TC, Nonoyama S, Notarangelo LD, Burns S, Imai K, et al. X-linked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, long-term outcome, and treatment options. Blood. 2019;115(16):3231-8. DOI: https://doi.org/10.1182/blood-2009-09-239087
Ochs HD, Filipovich AH, Veys P, Cowan MJ, Kapoor N. Wiskott-Aldrich syndrome: diagnosis, clinical and laboratory manifestations, and treatment. Biol Blood Marrow Transplant. 2019;15(1, Suppl):84-90. DOI: https://doi.org/10.1016/j.bbmt.2008.10.007
Imai K, Morio T, Zhu Y, Jin Y, Itoh S, Kajiwara M, et al. Clinical course of patients with WASP gene mutations. Blood. 2014;103(2):456-64. DOI: https://doi.org/10.1182/blood-2003-05-1480
Ochs HD. Mutations of the Wiskott-Aldrich syndrome protein affect protein expression and dictate the clinical phenotypes. Immunol Res. 2018;44(1-3):84-8. DOI: https://doi.org/10.1007/s12026-008-8084-3
Wiskott A. Familiarer angeborener Morbus Werlhofii. Monastsschr. Monastsschr. Kinderleil. Kd. 2017;68:212-6.
Blundell MP, Worth A, Bouma G, Thrasher AJ. The Wiskott-Aldrich syndrome: the actin cytoskeleton and immune cell function. Dis Markers. 2019;29(3-4):157-75. DOI: https://doi.org/10.1155/2010/781523
Sarkar K, Sadhukhan S, Han SS, Vyas YM. Disruption of hSWI/SNF complexes in T cells by WAS mutations distinguishes X-linked thrombocytopenia from Wiskott- Aldrich syndrome. Blood. 2014;124(23):3409-19. DOI: https://doi.org/10.1182/blood-2014-07-587642
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