Retrospective analysis of pediatric primary immunodeficiencies with congenital heart defects

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Abstract

Around 20,000 children with heart defects are born annually in the Russian Federation, among which around 5,000 children are manifested by its critical course that requires surgical correction within the first days after birth. Although timely pre- and postnatal diagnostics of congenital heart pathology allows to provide proper therapeutic and surgical assistance for such patients, it is hard to minimize severe complications at any stage of the child’s treatment. Quite often, post-surgery patients are unable to cope with serious complications caused by infectious diseases of the respiratory tract, endocardium and meninges. A special place is taken by cases of severe postoperative period: long-term non-healing postoperative wounds and septic disorders leading to patient death. Here we put forward an idea that congenital heart disease may serve as a marker of primary immunodeficiency characterized by lowered parameters of cellular and humoral immunity. Current retrospective study included 29 children died within the first year of life, whose medical records demonstrated confirmed congenital heart disease and manifested signs of immune-dependent pathology. There were analyzed data regarding pregnancy course in order to identify factors contributing to early diagnostics of immune-related pathology associated with CHD. The analysis of existing problems affecting proper diagnostics and treatment of children with congenital heart disease coupled to “covert” PID form was performed. It was noted that among twenty described syndromes manifested with congenital heart disease, seven are currently referred to the group of primary immunodeficiencies. Types of congenital heart defects in the study group ranged from disorders of the valve apparatus to the non-functional opening between heart chambers. Signs of immune-related pathology included decreased thymus size revealed by ultrasound examination as well as lowered value of genetic markers TREC and KREC, retrospectively obtained from neonatal dry blood spots. Finally, we name a key element for successful differential diagnostics of PID with congenital heart disease – awareness of various medical workers about such pathology for developing algorithms for their interaction with regard to management of such comorbid patients.

About the authors

S. S. Deryabina

Medical Center “Health Care of Mother and Child”; Institute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences; First President of Russian Federation B. Yeltsin Ural Federal University

Author for correspondence.
Email: ssderyabina@gmail.com

Deryabina Svetlana S. - PhD (Biology), Head, Laboratory of Molecular Diagnostics; Research Associate, Laboratory of Immunology of Inflammation; Research Associate, Department of Immunochemistry

620067, Yekaterinburg, Flotskaya str., 52

Phone: 7 (343) 374-31-10

Russian Federation

D. A. Cheremokhin

Medical Center “Health Care of Mother and Child”; Institute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences

Email: fake@neicon.ru

Laboraty Doctor, Laboratory of Molecular Diagnostics; Postgraduate Student

Yekaterinburg

Russian Federation

I. A. Tuzankina

Institute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences; First President of Russian Federation B. Yeltsin Ural Federal University; Regional Children Clinical Hospital No. 1

Email: fake@neicon.ru

PhD, MD (Medicine), Professor, Honored Scientist of the Russian Federation, Chief Research Associate, Laboratory of Immunology of Inflammation; Leading Research Associate, Department of Immunochemistry; Allergist-Immunologist, Scientific Department

Yekaterinburg

Russian Federation

M. A. Bolkov

Institute of Immunology and Physiology, Ural Branch, Russian Academy of Sciences; First President of Russian Federation B. Yeltsin Ural Federal University

Email: fake@neicon.ru

PhD (Medicine), Senior Research Associate, Laboratory of Immunology of Inflammation; Research Associate, Department of Immunochemistry

Yekaterinburg

Russian Federation

Kh. Shinvary

First President of Russian Federation B. Yeltsin Ural Federal University

Email: fake@neicon.ru

Postgraduate Student, Department of Immunochemistry

Yekaterinburg

Russian Federation

References

  1. Детская кардиохирургия. Руководство для врачей. Под ред. Л.А. Бокерия, К.В. Шаталова. М.: НЦССХ им. А.Н. Бакулева, 2016. С. 24-40. [Pediatric heart surgery: a guide for doctors. Ed. L.A. Bokeriya, K.V. Shatalov]. Moscow: A. Bakulev National Center for Cardiovascular Surgery, 2016, pp. 24-40.
  2. Литвицкий П.Ф., Синельникова Т.Г. Врожденный иммунитет: механизмы реализации и патологические синдромы: ч. 2 // Вопросы современной педиатрии, 2009. Т. 8, № 2. С. 59-67. [Litvitskiy P.Ph., Sinelnikova T.G. Inborn immunity: mechanisms of realization and pathological syndromes: Pt 2. Voprosy sovremennoy pediatrii = Current Pediatrics,2009, Vol. 8, no. 2, pp. 59-67. (In Russ.)]
  3. Тузанкина, И.А. К вопросу диагностики иммунопатологии // Медицинская иммунология, 2010. Т. 12, № 6. С. 485-496. [Tousankina I.A. Some issues of diagnostics in immune pathology. Meditsinskaya immunologiya = Medical Immunology (Russia), 2010, Vol. 12, no. 6, pp. 485-496. (In Russ.)] doi: 10.15789/1563-0625-2010-6-485-496.
  4. Тузанкина И.А., Дерябина С.С., Болков М.А. Первичные иммунодефициты в раннем возрасте. М., 2018. С. 104-110. [Tuzankina I.A., Deryabina S.S., Bolkov M.A. Primary immunodeficiencies at an early age]. Moscow, 2018, pp. 104-110.
  5. Щербина А.Ю. Маски первичных иммунодефицитных состояний: проблемы диагностики и терапии / А.Ю. Щербина // Российский журнал детской гематологии и онкологии, 2016. Т. 3, № 1. С. 52-58. [Shcherbina A.Yu. Masks of primary immunodeficiency disorders: diagnostic and therapeutic problems. Rossiyskiy zhurnal detskoy gematologii i onkologii = Russian Journal of Pediatric Hematology and Oncology, 2016, Vol. 3, no. 1, pp. 52-58. (In Russ.)]
  6. Best K.E., Rankin J. Is advanced maternal age a risk factor for congenital heart disease? Birth Defects Res. A, 2016, Vol. 106, no. 6, pp. 461-467.
  7. Pierpont M.E. Genetic basis for congenital heart defects: current knowledge. A scientific statement from the american heart association congenital cardiac defects committee, council on cardiovascular disease in the young. Circulation, 2007, Vol. 115, no. 23, pp. 3015-3303

Copyright (c) 2020 Deryabina S.S., Cheremokhin D.A., Tuzankina I.A., Bolkov M.A., Shinvary K.

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This work is licensed under a Creative Commons Attribution 4.0 International License.
Свидетельство о регистрации СМИ ПИ № 77 - 11525 от 04.01.2002 выдано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).


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