CLINICAL-LABORATORY CHARACTERISTIC OF PATIENTS WITH SYNDROME DIGEORGE
- 作者: Pashnina I.1, Vlasova E.1, Deryabina S.2
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隶属关系:
- Regional Children’s Clinical Hospital
- Medical Center “Health Care of Mother and Child”
- 期: 卷 22, 编号 3 (2019)
- 页面: 1239-1243
- 栏目: ORIGINAL ARTICLES
- URL: https://journals.rcsi.science/1028-7221/article/view/119587
- DOI: https://doi.org/10.31857/S102872210007261-2
- ID: 119587
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全文:
详细
Cases of children (n=34) and adults (n=3) with DiGeorge syndrome were investigated. In 33 of 34 children 22q11.2 deletion was revealed. In 30 children a cardiac malformation was diagnosed, in 12 cases – in combination with other congenital malformations, all children had face dysmorphisms. Young children had more severe physical and speech development delay. All children showed signs of antiinfectious protection disorders: acute and chronic viral and bacterial infections of different localization. Lethal outcomes were observed in four children: three of them – because of sepsis, one – because of hypocalcemic crisis. The decreased level of the T-cells, T-helpers and cytotoxic T-cells absolute count in peripheral blood was observed in 59–68% of children. The decreased count of B-lymphocytes and natural killers was detected less frequently: in 26% and 15% of patients, respectively.
作者简介
I. Pashnina
Regional Children’s Clinical Hospital
编辑信件的主要联系方式.
Email: irina_pashnina@list.ru
PhD, Head of clinical diagnostics laboratory,
Yekaterinburg
俄罗斯联邦E. Vlasova
Regional Children’s Clinical Hospital
Email: fake@neicon.ru
PhD, Head of clinic immunology office,
Yekaterinburg
俄罗斯联邦S. Deryabina
Medical Center “Health Care of Mother and Child”
Email: fake@neicon.ru
PhD, Head of laboratory of molecular diagnostics,
Yekaterinburg
俄罗斯联邦参考
- Иммунология детского возраста: практическое руководство по детским болезням, под ред. А. Ю. Щербины, Е. Д. Пашанова. Москва: Медпрактика-М. 2006. 432 с.
- Bassett A. S., McDonald-McGinn D. M., Devriendt K., Digilio M. C., Goldenberg P., Habel A., Marino B., Oskarsdottir S., Philip N., Sullivan K., Swillen A., Vorstman J. International 22q11.2 Deletion Syndrome Consortium. Practical guidelines for managing patients with 22q11.2 deletion syndrome. J Pediatr. 2011, 159(2):332–9.e1.
- Кондратенко И. В., Бологов А. А. Первичные иммунодефициты. М.: Медпрактика-М. 2005. 321 с.
- Румянцев А. Г., Масчан А. А. Федеральные клинические рекомендации по диагностике и лечению синдрома делеции 22-й хромосомы. М. 2014. 12с.
- Sgardioli I. C., Paoli Monteiro F., Fanti P., Paiva Vieira T., Gil-da-Silva-Lopes V. L. Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health. Orphanet J Rare Dis. 2019, 14(1):123.
- Швец О. В., Продеус А. П., Щербина А. Ю. Синдром делеции DEL 22q11.2 (синдром ДиДжорджи): клинические и иммунологические аспекты патологии. Российский иммунологический журнал. 2011, 5(14), 2, 101–111.
- Намазова-Баранова Л.С., Гинтер О. В., Полунина Т. А., Давыдова И. В., Савостьянов К. В., Пушков А. А., Журкова Н. В., Мосьпан Т. Я. Синдром делеции 22q11.2: симптомы, диагностика, лечение. Вопросы современной педиатрии. 2016; 15 (6): 590–595.
- Jonas R. K., Montojo C. A., Bearden C. E. The 22q11.2 Deletion Syndrome as a Window Into Complex Neuropsychiatric Disorders Over the Lifespan. Biol Psychiatry. 2014, 75 (5), 351–360.
- Genes D. G., Schaer M., Eliez S. Brain Development and Psychiatric Phenotypes in Velo-Cardio-Facial Syndrome. Dev. Disabil. Res. Rev. 2008, 14 (1), 59–68.
- Klocperk A., Paračková Z., Bloomfi eld M., Rataj M., Pokorný J., Unger S., Warnatz K., Šedivá A. Follicular Helper T Cells in DiGeorge Syndrome. Front Immunol. 2018, 9:1730.
- Tosato F., Bucciol G., Pantano G. Lymphocytes Subsets Reference Values in Childhood. Cytometry Part A. 2015, 87A, 81–85.
- Giardino G., Radwan N., Koletsi P., Morrogh D. M., Adams S., Ip W., Worth A., Jones A., Meyer-Parsonson I., Gaspar H. B., Gilmour K., Davies E. G., Ladomenou F. Clinical and immunological features in a cohort of patients with partial DiGeorge syndrome followed at a single centre. Blood. 2019, pii: blood.2018885244.
