RETROSPECTIVE DIAGNOSIS OF IMMUNOREGULATORY DISORDERS IN CHILDREN REQUIRING DISPENSARY MONITORING

DOI: https://doi.org/10.29296/25877305-2023-05-16
Issue: 
5
Year: 
2023

N. Penkina(1), MD; N. Ermolaeva(2); D. Kudlay(3, 4), Corresponding Member of RAS, MD; Professor A. Prodeus(5), MD
1-Izhevsk State Medical Academy
2-Republican Children's Clinical Hospital, Izhevsk
3-I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia
4-NRC Institute of Immunology FMBA of Russia, Moscow
5-Research Clinical Institute of Childhood, Moscow

Objective. To find the relationship between the quantitative indicators of DNA TREC and KREC with three groups of pathological conditions: sudden death syndrome, frequent diseases of the bronchopulmonary system and allergic diseases. Materials and methods. The study was conducted retrospectively. The survey group included infants and young children with various diseases, in which, based on the anamnesis, the presence of a pathology of the immune system was assumed. A total of 43 children were examined, of which group I - 5 children with sudden death syndrome, group II - 25 patients with frequent diseases of the bronchopulmonary system who received long-term antibiotic therapy, group III - 13 children with allergic diseases. Quantitative determination of TREC and KREC was carried out from samples of "dry spots" of blood obtained during neonatal screening. Results. Low TREC values were recorded more frequently than low KREC values, found in 79.1% and 48.8%, respectively. In the group of patients with sudden death syndrome (I group), who died in the first - fourth months of life, there were high rates of intrauterine growth retardation, dysembryogenesis stigma, congenital malformations, intrauterine infections. This group of children is characterized by thymomegaly and hypoplasia of the adrenal glands, TREC and KREC values are reduced in all children. The group of children with a high frequency of bronchopulmonary diseases (Group II) is characterized by a persistent course of herpes virus infection, prolonged subfebrile condition, neutropenia, transient hypoimmunoglobulinemia A, and thymomegaly. Low TREC values were found in 88% of children of group II, KREC - in 32%. In the III group of patients with allergic diseases (bronchial asthma, atopic dermatitis, allergic rhinitis, food allergy), TREC values are reduced in 53.8% of children, KREC – in 61.5% of children. Children of this group often suffered ARI, laryngotracheitis, obstructive bronchitis. During the first months of life, 75% of children manifested atopic dermatitis. In 62.5% of children with allergic diseases, a low level of serum immunoglobulin A was detected. Conclusions. Low values of TREC and KREC in a significant part of the examined patients make it possible to suspect the pathology of the immune system. The presence of diseases belonging to the group of warnings for the presence of primary immunodeficiency may also indicate the pathology of the immune system, primary or transient, due to infections, prematurity, intrauterine growth retardation, toxic effects. Comparison of the results of the survey in the neonatal period and diseases formed in infancy and early childhood was carried out retrospectively. The introduction in the Russian Federation of neonatal screening of primary immunodeficiencies based on the quantitative determination of TREC and KREC makes it possible to timely diagnose immunity errors and prescribe modern methods of treatment. However, the cut-off of the TREC and KREC values needs to be revised in the future.
Keywords: 
primary immunodeficiencies
sudden death syndrome
allergy
TREC
KREC.

References: 
  1. Objective. To find the relationship between the quantitative indicators of DNA TREC and KREC with three groups of pathological conditions: sudden death syndrome, frequent diseases of the bronchopulmonary system and allergic diseases.
  2. Materials and methods. The study was conducted retrospectively. The survey group included infants and young children with various diseases, in which, based on the anamnesis, the presence of a pathology of the immune system was assumed. A total of 43 children were examined, of which group I - 5 children with sudden death syndrome, group II - 25 patients with frequent diseases of the bronchopulmonary system who received long-term antibiotic therapy, group III - 13 children with allergic diseases. Quantitative determination of TREC and KREC was carried out from samples of "dry spots" of blood obtained during neonatal screening.
  3. Results. Low TREC values were recorded more frequently than low KREC values, found in 79.1% and 48.8%, respectively. In the group of patients with sudden death syndrome (I group), who died in the first - fourth months of life, there were high rates of intrauterine growth retardation, dysembryogenesis stigma, congenital malformations, intrauterine infections. This group of children is characterized by thymomegaly and hypoplasia of the adrenal glands, TREC and KREC values are reduced in all children. The group of children with a high frequency of bronchopulmonary diseases (Group II) is characterized by a persistent course of herpes virus infection, prolonged subfebrile condition, neutropenia, transient hypoimmunoglobulinemia A, and thymomegaly. Low TREC values were found in 88% of children of group II, KREC - in 32%. In the III group of patients with allergic diseases (bronchial asthma, atopic dermatitis, allergic rhinitis, food allergy), TREC values are reduced in 53.8% of children, KREC – in 61.5% of children. Children of this group often suffered ARI, laryngotracheitis, obstructive bronchitis. During the first months of life, 75% of children manifested atopic dermatitis. In 62.5% of children with allergic diseases, a low level of serum immunoglobulin A was detected.
  4. Conclusions. Low values of TREC and KREC in a significant part of the examined patients make it possible to suspect the pathology of the immune system. The presence of diseases belonging to the group of warnings for the presence of primary immunodeficiency may also indicate the pathology of the immune system, primary or transient, due to infections, prematurity, intrauterine growth retardation, toxic effects. Comparison of the results of the survey in the neonatal period and diseases formed in infancy and early childhood was carried out retrospectively. The introduction in the Russian Federation of neonatal screening of primary immunodeficiencies based on the quantitative determination of TREC and KREC makes it possible to timely diagnose immunity errors and prescribe modern methods of treatment. However, the cut-off of the TREC and KREC values needs to be revised in the future.