Department of Life Sciences and Global Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
2 Università Cattolica Sacro Cuore, Rome, Italy.
3 Diagnostic Imaging, Oncological Radiotherapy and Hematology Department, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.
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disparate group of rare hematological diseases characterized by
impaired maturation of neutrophil granulocytes defines congenital
neutropenias. Neutropenic patients are prone to recurrent infections
beginning in the first months of life. Of interest is "cyclic
neutropenia", an ultra-rare disorder revealed by sinusoidal variations
in the neutrophil count and recurring infections every 21 days.
Diagnosis of these disorders is frequently obscured by the multiple
causes of recurrent fevers in children. The aim of this overview is to
outline the physical assessment of children presenting with early-onset
symptomatic neutropenia, identify the disease between the many medical
conditions and even emergencies which should enter in differential
diagnosis, hint at the potential management with granulocyte-colony
stimulating factor, define the risk of evolution to hematologic
malignancy, and summarize inter-professional team strategies for
improving care coordination and outcomes of patients.
The Entwined Molecular Mechanisms of Neutropenia
The Spyglass of Genotype Studies in Congenital Neutropenias
The Common Outlet of Infections in Congenital Neutropenia
|Table 1. List of the most relevant causes of congenital neutropenia and other conditions potentially giving rise to neutropenia.|
List of the most relevant causes of congenital neutropenia and other conditions potentially giving rise to neutropenia.
|Table 2. Pivotal keys to the diagnosis of congenital neutropenia in children.|
Assessing the Risk of Evolution to Hematologic Malignancy
How to Put Children with Recurrent Fevers in Differential Diagnosis
|Table 3. List of the most relevant systemic autoinflammatory disorders entering in differential diagnosis with cyclic neutropenia.|
Clues for the Specific Management of Children with Congenital Neutropenia
General Conclusive Remarks