NUTRITIONAL STATUS PECULIARITIES IN CHILDREN WITH CYSTIC FIBROSIS OF THE RUSSIA’S NORTH CAUCASUS VARIOUS ETHNIC GROUPS
Authors:   National Medical Research Center for Children’s Health, Moscow, Russia, Sokolov Ina , Simonov M.V. ,   National Medical Research Center for Children’s Health, Moscow, Russia, Simonova O.I. ,   National Medical Research Center for Children’s Health, Moscow, Russia,   I.M. Sechenov First Moscow State Medical University, Moscow, Russia,   Morozov Children’s City Clinical Hospital, Moscow, Russia, Borovik T.E. ,   National Medical Research Center for Children’s Health, Moscow, Russia,   I.M. Sechenov First Moscow State Medical University, Moscow, Russia, Bushueva T.V. ,   National Medical Research Center for Children’s Health, Moscow, Russia,   Academician N.P. Bochkov Research Center of Medical Genetics (RCMG) of the Ministry of Science and Higher Education of the Russian Federation, Moscow, Russia, Skvortsova V.A. ,   National Medical Research Center for Children’s Health, Moscow, Russia,   M.F. Vladimirsky Moscow Oblast Regional Scientific and Research Clinical Institute (MONIKI), Moscow, Russia, Pushkov A.A. ,   National Medical Research Center for Children’s Health, Moscow, Russia, Savostyanov K.V. ,   National Medical Research Center for Children’s Health, Moscow, Russia, Fisenko A.P. ,   National Medical Research Center for Children’s Health, Moscow, Russia, Kazyukova T.V. ,   Polyclinic and Emergency Pediatrics Department of the Medical School for Maternity and Childhood with the Pirogov Russian National Research Medical University, Moscow, Russia, Matsneva I.Yu. ,   National Medical Research Center for Children’s Health, Moscow, Russia, Mustafaeva D.I. ,   National Medical Research Center for Children’s Health, Moscow, Russia, Kashirskaya N.Yu. ,   Academician N.P. Bochkov Research Center of Medical Genetics (RCMG) of the Ministry of Science and Higher Education of the Russian Federation, Moscow, Russia,   M.F. Vladimirsky Moscow Oblast Regional Scientific and Research Clinical Institute (MONIKI), Moscow, Russia
Published: June 2024

Adequate nutritional status in a patient with cystic fibrosis (CF) positively correlates with the normal function of the bronchopulmonary system. Many domestic and foreign studies have been conducted so far to assess the nutritional status of children and adults with CF. However, there is no data as yet on the phenotypic characteristics of children from different ethnic groups of the North Caucasus depending on their genotype. The purpose of this research was to study the peculiarities of nutritional status in children with CF of the following Russia’s North Caucasus ethnic groups: Chechen, Karachay-Circassian, Dagestani, Ingush and Ossetian-Alanian. Materials and methods used: a single-center open prospective study of 117 children with CF aged 2 months to 17 years old (Me 6 y/o) of various North Caucasus ethnic groups was conducted. All patients have undergone molecular diagnosis and assessment of both nutritional status and exocrine pancreatic function. Results: 50.4% of pediatric patients with CF in the Russia’s North Caucasus have had pathological mutations in c.1545_1546delTA, p.(Tyr515*) and c.3846G>A, p.(Trp1282*) in homozygous state. These mutations were most often found in the Ingush (100%) and Chechen (82%) ethnic groups and somewhat less frequently in the Dagestani (57.1%) and Karachay-Circassian (54%) ethnic groups. In the Chechen and Ossetian-Alanian ethnic groups, when these mutations were detected, severe pancreatic insufficiency was established in 40.5% and 100% of cases, respectively. Pseudo-Bartter syndrome was diagnosed in 60% of cases with this genetic variant in a homozygous or compound heterozygous states during the patients’ first years of life. Indicators for the nutritional status of children with CF from different ethnic groups were significantly lower compared to those recorded officially in the 2021 Russian National Register of Patients with CF. Conclusion: it is necessary to study the course of CF and the state of nutritional status separately in each population and its connection with the identified genetic characteristics of the Russia’s North Caucasus ethnic groups. The genotype and phenotype patterns for these patients were the reason for the development of disorders of the exocrine function of the pancreas and pseudo-Bartter syndrome at an early age, which in its turn could lead to further development of nutritional deficiency.