| Abstract |
Introduction: Neutropenia is a common clinical finding in infants and children and less in adolescents and young adults, in whom a long course and need for therapeutic intervention is more often observed. Depending on the duration of the low neutrophil count, it can be classified as acute or chronic, with the former category being found in the majority of patients. The causes of neutropenia are varied and the mechanisms of pathogenesis in some cases not fully understood. Thus, this clinical finding can be attributed to both congenital and acquired causes. In the latter case, which is the most common, neutropenia appears to follow a milder clinical course, with patients presenting with milder symptoms and a favourable prognosis. The diagnostic algorithm followed to find the most likely causative agent is based on data gained over many years of experience. The clinical features, management and outcome of patients vary according to the age of diagnosis and the aetiopathogenesis. As regards infants and children up to 3 years of age presenting with chronic neutropenia, the most common clinical entity seen is Autoimmune Neutropenia (AIN). AIN may be either primary or associated with other conditions (secondary) and, in most cases, antibodies to neutrophil antigens are detected in the patients' serum. Neutropenia is often an incidental finding, and the treatment of patients consists mainly of simple monitoring, as in the majority of cases there is spontaneous remission, irrespective of treatment.
Aim: The aim of this study is the 5-year retrospective record of neutropenia cases, analysis of the data in relation to the aetiopathogenesis, laboratory testing, clinical course and outcome of the patients, and review of the current international literature on Autoimmune Neutropenia of Childhood (AIN).
Materials and methods: The data of infants and children referred for neutropenia investigation at the Department of Pediatric Hematology – Oncology of the University Hospital of Heraklion during the period 01/07/2018 to 30/06/2023 were collected. More specifically, demographic data, personal and family history, laboratory findings (hematological-virological-immunological testing), events during follow-up, treatment, clinical course and outcome were recorded. Furthermore, the results were listed in those cases where it was deemed appropriate to test for the presence of anti-neutrophil antibodies (ANA) and further molecular analysis (by NGS). The information was collected from the patients' medical records, followed by statistical analysis and comparison of the results with the existing international literature.
Results: The 5-year case record resulted in the collection of 71 patients, of which 33 (46.48%) were males and 38 (53.52%) were females. A total of 19 infants < 1 year old (26.76%), 41 children 1-12 years old (57.75%) and 11 adolescents > 12 years old (15.49%) were studied. The mean age of diagnosis of neutropenia was estimated to be 5.17 years and in 54.93% (39 patients) low neutrophil count was found in random laboratory testing. Three of the children in the study were finally diagnosed with congenital neutropenia, one with ethnic neutropenia, while 34 had confirmed autoimmune neutropenia. In 24 of the patients, spontaneous remission was observed, with a mean duration of disease estimated at 1.235 years. All patients were treated according to internationally approved protocols and some of them are still under follow-up.
Discussion: In the present study, infants, children, and adolescents from a paediatric haematology center in Greece were studied, however, despite the limitations in drawing statistically significant conclusions, the data seem to be in agreement with corresponding parameters from the international literature. Future study of a larger number of patients in the context of multicenter collaborative groups may lead to safe conclusions and better management of patients.
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