Majeed综合征的诊断和治疗进展  

Progress in diagnosis and treatment of Majeed syndrome

作　　者：王庚 田执梁[1] Wang Geng;Tian Zhiliang(Department of Pediatrics,the Second Affiliated Hospital of Harbin Medical University,Harbin 150081,China)

机构地区：[1]哈尔滨医科大学附属第二医院儿科,哈尔滨150081

出　　处：《国际遗传学杂志》2022年第3期190-194,共5页International Journal of Genetics

摘　　要：Majeed综合征是一种罕见的常染色体隐性遗传疾病,由染色体18p11上编码磷脂酸磷酸酶Lipin-2基因突变引起。该综合征在临床上儿童主要表现为慢性复发性多灶性骨髓炎(chronic recurrent multifocal osteomyelitis,CRMO)或慢性非细菌性骨髓炎(chronic non bacterial osteomyelitis,CNO)、先天性红细胞生成障碍性贫血(congenital dyserythropoietic anemia,CDA),常伴有反复性发热或中性粒细胞性皮肤病(Sweet综合征)。本文从Majeed综合征的发病机制、临床特点、临床诊断及治疗进展等方面综述其研究进展,以便更好地为Majeed综合征的机制研究和临床诊治提供帮助。Majeed syndrome is a rare autosomal recessive disease,which is caused by the mutation of Lipin-2 gene encoding phosphatase on chromosome 18p11.Clinically,the main manifestations of this syndrome in children are chronic recurrent multifocal osteomyelitis(CRMO)or chronic non bacterial osteomyelitis(CNO),ongenital dyserythropoietic anemia(CDA),and often accompanied by recurrent fever or neutrophilic skin disease(Sweet syndrome).This paper reviews the research progress of Majeed syndrome from the aspects of pathogenesis,clinical characteristic,clinical diagnosis and treatment progress,so as to better provide help for the mechanism research and clinical diagnosis and treatment of Majeed syndrome.

关 键 词：Majeed综合征 常染色体隐性遗传疾病 慢性复发性多灶性骨髓炎 

分 类 号：R725.9[医药卫生—儿科]