Features of the clinical course of Nijmegen breakage syndrome in children. Clinical case
DOI:
https://doi.org/10.15574/SP.2025.4(148).160168Keywords:
children, combined immunodeficiency, Nijmegen breakage syndromeAbstract
Nijmegen breakage syndrome (NBS) is a rare disorder with autosomal recessive inheritance. It belongs to a group of disorders often called chromosomal instability syndromes. Clinically it is typically by facial dysmorphic changes at birth without neurological manifestations. Other important clinical features, more pronounced with age, include mild growth retardation, premature ovarian failure, a tendency to recurrent infections of various organs, and a very high risk of developing malignancies at an early age, most often of hematological origin. The disease is based on a combined immunodeficiency of both cellular and humoral responses.
Aim - to introduce practicing physicians with the features of the clinical manifestations and course of NBS in a child.
Clinical case. The features of the clinical course of NBS are described and presented. The main diagnostic value of complaints, anamnesis, dynamics of clinical manifestations, laboratory and instrumental research methods, genome sequencing to confirm NBS, bone marrow examination to confirm T-cell leukemia, karyotyping method, genome sequencing corresponding to the detected 657del5 mutation of the NBN gene in the homozygous state are highlighted.
Conclusions. Nijmegen breakage syndrome is a pathology that is inherited in an autosomal recessive manner and belongs to the group of chromosomal instability syndromes with gene rearrangements. The presence of combined immunodeficiency in children with NBS is the basis for an increased risk of malignant neoplasms.
The study was performed in accordance with the principles of the Declaration of Helsinki. Informed consent of the child's parents was obtained for the study. The authors declare that there is no conflict of interest.
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