ВЗК-ПОДОБНЫЕ ЗАБОЛЕВАНИЯ У ПАЦИЕНТОВ С Х-СЦЕПЛЕННОЙ АГАММАГЛОБУЛИНЕМИЕЙ: АНАЛИЗ КЛИНИЧЕСКИХ НАБЛЮДЕНИЙ

Abstract

X-linked agammaglobulinemia (XLA) is a primary immunodeficiency (PID) characterized by defective B cell maturation, low serum immunoglobulin concentrations and recurrent infectious episodes. The disease is caused by defects of the BTK gene, which encodes Bruton's tyrosine kinase. Along with frequent infections, autoimmune complications of XLA are an important issue. Inflammatory bowel disease-like syndromes (IBD) represent a special group of complications of XLA, their pathophysiology largely unknown. Materials and methods used: Authors conducted a retrospective data analysis of 56 patients with XLA followed at the National Scientific and Practical Center for Pediatric Hematology, Oncology and Immunology named after Dmitry Rogachev (Moscow, Russia) in 2011-2022. Results: IBD-like disease was diagnosed in 11 of 56 (19.6%) patients with XLA, based on medical history, endoscopic picture, histological and laboratory studies. The median onset of the first clinical manifestations of IBD was 7 years (2;14). The most common symptoms were weight loss (7/11, 64%), chronic diarrhea (7/11, 64%) and recurrent abdominal pain (5/11, 45%). Blood in the stool was detected in a quarter of the patients (3/11, 27%). Upon implementation of anti-inflammatory therapy, the majority of patients available for assessment (7/10, 70%) demonstrated improvement. Complete response to therapy with mesalazine was achieved in 2 patients out of 9 who used it (22%). Complete response to treatment with adalimumab was observed in 1 out of 4, with infliximab in 1/3, and with vedolizumab in 1/2. A single patient had refractory IBD without response to all treatment modalities, which served as an indication for allogeneic hematopoietic stem cell transplantation (HSCT), which unfortunately resulted in fatal outcome due to early post-transplant complications. Conclusion: intestinal symptoms in XLA require special vigilance and a multidisciplinary approach. In the study group, the use of variable anti-inflammatory therapy in the majority of patients was shown to be effective and did not lead to the development of additional infectious complications. Analysis of a larger number of patients with XLA and IBD would allow standardization of anti-inflammatory therapy selection in this complex group.