Congenital neutropenia in children: short and long way to diagnosis

The diagnosis of neutropenia is based, first of all, on the results of the assessment of the absolute number of neutrophils in the complete blood count and the clinical picture. Genetic confirmation of the diagnosis of congenital neutropenia can be long and not always successful. The purpose of work - to analyze the clinical course and laboratory features of congenital neutropenia in children on bases of two clinical cases in order to pay the doctors’ attention to the diagnosis of these diseases. We present clinical cases that confirm the variability of clinical and laboratory manifestations and the severity of the course of neutropenia. In the first case, congenital neutropenia was manifested by profound clinical signs with cyclicity, was accompanied by fever, aphthous stomatitis, and gingivitis. The absolute neutrophil count was consistent with severe neutropenia, but it took several years for genetic confirmation of the diagnosis. The second case of cytopenia, including neutropenia in a boy, was found in twins by chance, as the children had no clinical manifestations associated with neutropenia. Despite the obviousness of neutropenia in the general blood test with or without clinical manifestations, the path to a complete diagnosis is not always simple. Cytopenia in children, including neutropenia, requires a multidisciplinary approach to diagnosis, excluding both the causes of secondary neutropenia, hematological pathology, and immune disorders, primarily the phagocytic defects. Genetic testing can help verify an accurate diagnosis in patients with inborn errors of immunity, however, the genetic variants of a large number of congenital neutropenias remain unknown. Isolated neutropenia in children, as well as in combination with other cytopenias, require careful monitoring and the selection of optimal management tactics, as they can have serious complications. Following of patients will make it possible to expand knowledge about the disease course, the dynamics of symptoms, the occurrence of complications in order to prevent them. The research was carried out in accordance with the principles of the Helsinki Declaration. The study protocol was approved by the Local Ethics Committee of all participating institutions. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.