由于G6PC3缺乏导致的严重先天性中性粒细胞减少症：一名患者的早期和延迟表型
Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype of a patient.
作者信息
Moradian Negar, Zoghi Samaneh, Rayzan Elham, Seyedpour Simin, Jimenez Heredia Raul, Boztug Kaan, Rezaei Nima
机构信息
School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Research Center for Immunodeficiencies (RCID), Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
出版信息
Allergy Asthma Clin Immunol. 2023 Jun 9;19(1):51. doi: 10.1186/s13223-023-00804-4.
BACKGROUND
Severe Congenital Neutropenia type 4 (SCN4), is a rare autosomal recessive condition, due to mutations in the G6PC3 gene. The phenotype comprises neutropenia of variable severity and accompanying anomalies.
CASE PRESENTATION
We report a male patient with confirmed G6PC3 deficiency presented with recurrent bacterial infections and multi-systemic complications. Our case was the first with a novel homozygous frameshift mutation in G6PC3. The patient demonstrated large platelets on his peripheral blood smear which is a rare presentation of this disease.
CONCLUSION
As SCN4 patients could be easily missed, it is recommended to consider G6PC3 mutation for any case of congenital, unexplained neutropenia.
背景
4型严重先天性中性粒细胞减少症（SCN4）是一种罕见的常染色体隐性疾病，由G6PC3基因突变引起。其表型包括严重程度不一的中性粒细胞减少症及伴随的异常情况。
病例介绍
我们报告了一名确诊为G6PC3缺乏症的男性患者，该患者反复出现细菌感染及多系统并发症。我们的病例是首例发现G6PC3基因存在新型纯合移码突变的病例。该患者外周血涂片显示血小板体积较大，这在该疾病中较为罕见。
结论
由于SCN4患者容易被漏诊，对于任何先天性、不明原因的中性粒细胞减少症病例，建议考虑G6PC3基因突变。
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