ПАРОКСИЗМАЛЬНАЯ НОЧНАЯ ГЕМОГЛОБИНУРИЯ (СЛУЧАЙ ИЗ ПРАКТИКИ)

Abstract

The non-tumor blood disease paroxysmal nocturnal hemoglobinuria, which develops as a result of acquired mutations in the PIG-A gene, is presented. As a result of mutation, there is a loss of complement-regulating proteins (GPI-AP) on the surface of blood cells (on erythrocytes – CD55, CD59, on granulocytes – CD16, CD24, on monocytes – CD14, CD48). A clone of cells subject to complement-mediated hemolysis is formed. With intravascular hemolysis of erythrocytes, a lot of hemoglobin appears in the bloodstream, then it enters the urine, it darkens. Neutrophils are also destroyed, platelet aggregation increases. Venous and arterial thrombosis can occur throughout the body. The criteria and forms of PNG are described. The clinical manifestations are highlighted, the knowledge of which is necessary for doctors of different specialties to suspect PNG at the beginning of its development. When the diagnosis is delayed, the patient with thrombosis is treated under different diagnoses, time is running out… Identification of patients at risk can affect the outcome of PNG. Highly sensitive flow cytometry makes it possible to detect an APG clone with a size of 0.01% or more. Monoclonal antibody therapy changed the natural course of APG. The article presents the medical history of a patient with PNG. The diagnosis was made in our clinic at the stage of serious thrombotic complications, after a stay in two Moscow clinics where this disease was not suspected.