SAMD9 基因突变致MIRAGE综合征2例病例报告及文献复习
| 作者: |
1朱琳,
1陈春,
1宗海峰,
1杨传忠
1 南方医科大学附属深圳市妇幼保健院新生儿重症监护室，广东 深圳 518028 |
| 通讯: |
杨传忠
Email: yangczgd@163.com |
| DOI: | 10.3978/j.issn.2095-6959.2021.11.039 |
| 基金: | 深圳市“医疗卫生三名工程”(SZSM201612045)；广东省高水平临床重点专科(SZGSP009)。 |
摘要
MIRAGE综合征是由第7号染色体上的SAMD9基因突变引起一种常染色体显性遗传病，临床症状多变，主要表现为骨髓增生异常、反复感染、生长受限、肾上腺发育不全、生殖器异常和肠病。本文报道2例新生儿MIRAGE综合征患儿，以加强临床医生对本病的认识。
关键词：
血小板减少症；贫血；SAMD9基因；MIRAGE综合征
MIRAGE syndrome caused by SAMD9 gene mutation: 2 cases reports and literature review
CorrespondingAuthor: YANG Chuanzhong Email: yangczgd@163.com
DOI: 10.3978/j.issn.2095-6959.2021.11.039
Foundation: This work was supported by the Sanming Project of Medicine in Shenzhen (SZSM201612045) and Guangdong Provincial Highlevel Clinical Key Specialties (SZGSP009), China.
Abstract
MIRAGE syndrome is an autosomal dominant inherited disorder which is caused by gain-of-function mutations in the sterile motif domain-containing protein 9 ( SAMD9 ) gene on the long arm of chromosome 7. The clinical symptoms vary with clinical features of myelodysplasia, infection, restriction of growth, adrenal insufficiency, genitourinary abnormalities, and enteropathy. This paper reports 2 cases of neonatal MIRAGE syndrome to strengthen clinicians’ understanding of this disease.
Keywords：
thrombocytopenia; anemia; SAMD9 gene; MIRAGE syndrome