Clinical, epidemiological and laboratory characteristics of inflammatory bowel diseases in children with primary immunodeficiency

Kastiukevich L.I., Romanova O.N., Kolomiets N.D., Marakhovsky K.Y., Krasko O.V., Nazarenko O.N., Кokareva М.V.

Belarusian State Medical University, Minsk, Belarus
Belarusian Medical Academy of Рostgraduate Education, Minsk, Belarus
The Children’s Surgery National Applied Research Hospital, Minsk, Belarus
The United Institute of Informatics Problems of the National Academy of Sciences of Belarus, Minsk, Belarus
Minsk City Center of Hygiene and Epidemiology, Minsk, Belarus

Aim. To reveal the distinctive clinical, epidemiological and laboratory differences between inflammatory bowel diseases associated with PID and IBD in children.

Materials and methods. The study comprised 46 pediatric patients diagnosed with inflammatory bowel disease. All patients underwent whole exome sequencing by NGS. According to the results of whole exome sequencing by NGS, the patients were divided into 2 groups: the 1st group included 35 patients diagnosed with CIBD and the 2nd group included 11 patients with intestinal lesions associated with PID.

Conclusion. To ensure a high quality of life for patients in the presence of a combination of described symptoms, it is necessary to consider performing diagnostic tests, including sequencing, which make it possible to verify congenital defects in the immune system, suggest a certain form of intestinal pathology, make a correct diagnosis and prescribe adequate therapy in a timely manner.