Email this article Clinical and laboratory characteristics of a group of patients with ataxia-telangiectasia syndrome
- Authors: Asekretova T.V.1, Anderzhanova L.H.2, Leontyeva M.E.2, Rodina Y.A.2, Panferova A.V.2, Alexenko M.Y.2, Pеrshin D.E.2, Khadzhieva M.B.2, Larin S.S.2, Raykina E.V.2, Lebedev V.V.1, Myakova N.V.2, Shcherbina A.Y.2, Deripapa E.V.2
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Affiliations:
- Children's Regional Clinical Hospital of Ministry of Healthcare of the Krasnodar Region
- Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
- Issue: Vol 21, No 3 (2022)
- Pages: 47-55
- Section: ORIGINAL ARTICLES
- Submitted: 26.07.2022
- Accepted: 29.08.2022
- Published: 29.08.2022
- URL: https://hemoncim.com/jour/article/view/637
- DOI: https://doi.org/10.24287/1726-1708-2022-21-3-47-55
- ID: 637
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Abstract
This study presents the clinical and laboratory data of 50 patients with ataxia-telangioectasia syndrome (AT) (Louis-Bar syndrome) treated at the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology (Moscow, Russia) between 2012 and 2021. The study was approved by the Independent Ethics Committee and the Scientific Council of the Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation. We found that the patients experienced a significant diagnostic delay (the median delay in diagnosis was 4.5 years), although the first typical symptoms of AT were present at an earlier age (the median age was 1.5 years). The majority of patients showed laboratory signs of immunodeficiency, yet only 24% of the children developed severe infections. However, lung infections resulted in bronchiectasis in 16% of the patients and were the cause of death in 4/10 cases. Fifty-two percent of the patients had autoimmune complications, including interstitial lung disease and skin granulomas, and 24% of the patients developed malignant neoplasms. Of patients who underwent testing, 85% had KREC and/or TREC levels below the cutoff values used for neonatal screening of primary immunodeficiency disorders in Russia, which suggests that the majority of AT cases could be diagnosed by neonatal screening. Early diagnosis, multidisciplinary approach and high clinical suspicion for neoplastic manifestations are crucial for the successful management of AT.
About the authors
T. V. Asekretova
Children's Regional Clinical Hospital of Ministry of Healthcare of the Krasnodar Region
Author for correspondence.
Email: tasekretova75@gmail.com
ORCID iD: 0000-0002-1246-5898
Tatiana V. Asekretova, a pediatric oncologist at the Department of Oncology, Hematology and Chemotherapy
1 Pobedy Square, Krasnodar 350007, Russia
Russian FederationL. H. Anderzhanova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-3247-8688
Moscow
Russian FederationM. E. Leontyeva
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-0799-1025
Moscow
Russian FederationYu. A. Rodina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0001-9857-4456
Moscow
Russian FederationA. V. Panferova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-8580-3499
Moscow
Russian FederationM. Yu. Alexenko
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-2521-5353
Moscow
Russian FederationD. E. Pеrshin
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-6148-7209
Moscow
Russian FederationM. B. Khadzhieva
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Moscow
Russian FederationS. S. Larin
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
Moscow
Russian FederationE. V. Raykina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-7634-2053
Moscow
Russian FederationV. V. Lebedev
Children's Regional Clinical Hospital of Ministry of Healthcare of the Krasnodar Region
ORCID iD: 0000-0001-6934-2349
Krasnodar
Russian FederationN. V. Myakova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-4779-1896
Moscow
Russian FederationA. Yu. Shcherbina
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-3113-4939
Moscow
Russian FederationE. V. Deripapa
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation
ORCID iD: 0000-0002-9083-4783
Moscow
Russian FederationReferences
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