Etiology, clinical outcome, and laboratory features in children with neutropenia: Analysis of 104 cases

Abstract

BACKGROUND: Neutropenia is not uncommon in childhood. The aim of our study was to analyze the underlying causes of neutropenia and to evaluate its clinical significance in a series of children referred to our center. METHODS: One hundred and four consecutive children with neutropenia were enrolled in this study. Clinical and laboratory features were analyzed. RESULTS: The majority of patients (63.5%) showed chronic neutropenia. Among all chronic forms, the most frequent was chronic idiopathic neutropenia (CIN), followed by autoimmune neutropenia (AIN). Congenital neutropenia was identified in 6 patients. Acute neutropenia was mainly due to infections. Overall, at the time of first detection, neutropenia was more frequently severe or moderate. One-third of our patients who presented with severe neutropenia were ultimately diagnosed with a post-infectious acute form. Conversely, nearly half patients with CIN, AIN, or congenital neutropenia showed moderate/mild neutropenia at onset. Among patients with AIN and CIN, nearly half recovered between 7 months and 46 months and approximately one-fourth experienced infectious episodes during follow-up. No significant difference was noticed in terms of mean ANC between patients with and without remission, neither between patients with and without infections. CONCLUSIONS: Our study confirms the great etiological heterogeneity of neutropenia in children. We could not demonstrate a correlation between ANC level at onset and the underlying disorder, nor a correlation between mean ANC and duration of neutropenia or infectious episodes during follow-up. Neutropenia remains a disease of concern to pediatricians, requiring several laboratory investigations, prolonged follow-up, and, in few cases, advanced molecular methods.