A case of Nijmegen syndrome in a child with frequent relapses of a respiratory infection
- Authors: Besedina E.A.1, Prometnoy D.V.2, Piskunova S.G.3, Selezneva O.S.3, Kharakhashyan L.E.3, Anchutin P.E.1
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Affiliations:
- Rostov State Medical University
- St. Petersburg State Pediatric Medical University, Ministry of Healthcare of the Russian Federation
- Rostov Regional Children Clinical Hospital
- Issue: Vol 10, No 6 (2019)
- Pages: 85-92
- Section: Clinical observation
- URL: https://journals.rcsi.science/pediatr/article/view/21324
- DOI: https://doi.org/10.17816/PED10685-92
- ID: 21324
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Abstract
The article provides clinical dynamic observation of a child with a primary immunodeficiency state, presents the stages of the differential diagnostic search for congenital genetic pathology. Nijmegen syndrome is an autosomal recessive disease caused by a mutation of the NBN gene, characterized by microcephaly, “Bird” facial features, delayed physical development, immunodeficiency, congenital malformations, increased sensitivity to x-ray radiation and a high susceptibility to cancer. This syndrome is relevant for Russian pediatricians due to the high frequency of carriage of the “Slavic” NBN gene mutation among the population of the Russian Federation. The presented clinical observation describes a patient with characteristic phenotypic features, frequent episodes of acute respiratory viral infections (up to 8 times a year) with the addition of a bacterial infection, fever up to febrile numbers. The duration of verification of the immunodeficiency state was 5 years. Despite the complicated course of infectious diseases, the general well-being of the child did not suffer significantly, the level of neuropsychic development corresponded to age. The diagnosis of Nijmegen’s syndrome was made on the basis of characteristic phenotypic features, anamnesis, and laboratory data, instrumental studies and confirmed by the results of molecular genetic analysis.
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##article.viewOnOriginalSite##About the authors
Elena A. Besedina
Rostov State Medical University
Author for correspondence.
Email: prometnoy.d.v@gmail.com
MD, PhD, Associate Professor, Chair of Pediatrics No. 1
Russian Federation, Rostov-on-donDmitry V. Prometnoy
St. Petersburg State Pediatric Medical University, Ministry of Healthcare of the Russian Federation
Email: prometnoy.d.v@gmail.com
MD, PhD, Associate Professor, Department of Anesthesiology, Resuscitation and Emergency Pediatrics, Faculty of Postgraduate Education
Russian Federation, Saint PetersburgSvetlana G. Piskunova
Rostov Regional Children Clinical Hospital
Email: prometnoy.d.v@gmail.com
MD, PhD, Head Doctor
Russian Federation, Rostov-on-DonOlga S. Selezneva
Rostov Regional Children Clinical Hospital
Email: prometnoy.d.v@gmail.com
Head of the Immunological Laboratory
Russian Federation, Rostov-on-DonLarisa E. Kharakhashyan
Rostov Regional Children Clinical Hospital
Email: prometnoy.d.v@gmail.com
Head of Infectious Diseases Branch
Russian Federation, Rostov-on-DonPavel E. Anchutin
Rostov State Medical University
Email: prometnoy.d.v@gmail.com
Postgraduate Student, Chair of Pediatrics No. 1
Russian Federation, Rostov-on-donReferences
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