Clinical observation of the manifestation of paroxysmal nocturnal hemoglobinuria with a complication in the form of thrombosis in a teenager

Paroxysmal nocturnal hemoglobinuria in children is an acquired orphan disease that has not yet been sufficiently studied. Diagnostic errors with delayed diagnosis of paroxysmal nocturnal hemoglobinuria are common, due to the diversity of the clinical picture and insufficient awareness of doctors about this rare disease. Using the example of a clinical case of a patient with paroxysmal nocturnal hemoglobinuria to show the features of the manifestation and course of this disease. A 14-year-old patient, due to anemia, was hospitalized in the oncology department of the Regional Children’s Clinical Hospital named after N.N. Silishcheva (Astrakhan). During the examination, the diagnosis was made: severe iron deficiency anemia. Copious menstruation of the puberty period. Microhematuria and leukocyturia were noted in the urine analysis. Systemic connective tissue diseases and oncological pathology were excluded. Studies have been performed to diagnose autoimmune diseases. Survey results. As the patient was monitored, the diagnostic and therapeutic concepts changed. Given the presence of anemia, moderate hyperbilirubinemia, negative Coombs test and microhematuria, paroxysmal nocturnal hemoglobinuria is suspected. During cytofluorometry, an APG clone was detected – determined on erythrocytes (12.49%), granulocytes (93.7%) and monocytes (91.1%); ADAMTS13 91%, which confirmed the diagnosis of Paroxysmal nocturnal hemoglobinuria. Classical paroxysmal nocturnal hemoglobinuria in the practice of a pediatrician is extremely rare, the use of routine research methods leads to improper treatment and the development of complications. Timely specific diagnostics and therapy provided positive dynamics of clinical and laboratory symptoms of the disease and a favorable prognosis for health.