ATYPICAL HEMOLYTIC-UREMIC SYNDROME IN THE PRACTICE OF A PEDIATRICIAN

Abstract

Introduction Atypical hemolytic-uremic syndrome is a chronic systemic disease of genetic origin. A genetic defect in the regulation of the complement system leads to its permanent, uncontrolled, and excessive activation, resulting in generalized thrombus formation in the microcirculatory vessels and the development of systemic, complement-mediated thrombotic microangiopathy. This article provides the main clinical and diagnostic criteria for the extremely rare orphan disease known as atypical hemolytic-uremic syndrome in children.

Case description. The article presents a clinical case of successful treatment of a child with atypical hemolytic-uremic syndrome using targeted therapy with eculizumab, with a detailed analysis of the results of the patient's comprehensive examination and the dynamics of clinical and laboratory parameters during treatment. A clinical example demonstrates the effectiveness of targeted therapy in the early diagnosis of atypical hemolytic-uremic syndrome.

Conclusion. The presented clinical observation demonstrates the complexity of differential diagnostic search, however, it should be noted that the main reason for the late diagnosis of atypical hemolytic-uremic syndrome is the low awareness of doctors about this rare disease, modern criteria for its diagnosis and therapy. The presented clinical case is of great practical interest for pediatricians, infectious disease specialists and other specialists of practical healthcare, medical students. Timely diagnosis of atypical hemolytic-uremic syndrome, adequate therapy, will contribute to reducing the severity of the disease, preserving life and reducing disability of children.