CLINICAL-LABORATORY CHARACTERISTIC OF PATIENTS WITH SYNDROME DIGEORGE
- Authors: Pashnina I.A.1, Vlasova E.V.1, Deryabina S.S.2
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Affiliations:
- Regional Children’s Clinical Hospital
- Medical Center “Health Care of Mother and Child”
- Issue: Vol 22, No 3 (2019)
- Pages: 1239-1243
- Section: 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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Abstract
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.
About the authors
I. A. Pashnina
Regional Children’s Clinical Hospital
Author for correspondence.
Email: irina_pashnina@list.ru
PhD, Head of clinical diagnostics laboratory,
Yekaterinburg
Russian FederationE. V. Vlasova
Regional Children’s Clinical Hospital
Email: fake@neicon.ru
PhD, Head of clinic immunology office,
Yekaterinburg
Russian FederationS. S. Deryabina
Medical Center “Health Care of Mother and Child”
Email: fake@neicon.ru
PhD, Head of laboratory of molecular diagnostics,
Yekaterinburg
Russian FederationReferences
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