One Chinese Case Of Congenital Neutropenia And Literature Review

Objective: To investigate the clinical manifestation,pathogenesis and treatment of Congenital neutropenia and improve the diagnosis and treatment of the disease.Methods:Analyse the history,clinical manifestation,auxiliary examina-tion and treatment of one case in detail,and review the relevant literature.Results: The child has recurrent infection and neutrophil count decreases significantly after her birth.The clinical manifestation is consistent with Congenital neutropenia.Genetic tests shows that the mutation of c.640G>A in ELANE which has been reported was found.After treatment with G-CSF,the level of neutrophils was improved.Conclusion:Congenital neutropenia is a kind of immunodeficient disease associated with multiple gene mutations,and gene detection is helpful for the improvement of diagnosis and treatment.G-CSF is the first-line therapy of Congenital neutropenia.The radical treatment relies on hematopoietic stem cell transplantation.