SAMD9基因新发突变引起新生儿MIRAGE综合征1例  

A case of neonatal MIRAGE syndrome caused by novel mutation of SAMD9 gene

作　　者：李雅慧 王依闻 谢利娟[1] LI Yahui;WANG Yiwen;XIE Lijuan(Department of Neonatology,Xinhua Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai,China,200092)

机构地区：[1]上海交通大学医学院附属新华医院新生儿科,上海200092

出　　处：《上海交通大学学报（医学版）》2022年第11期1644-1648,共5页Journal of Shanghai Jiao tong University:Medical Science

摘　　要：新生儿,女,胎龄30周时因“羊水少、宫内发育迟缓”剖宫产出生,生后出现严重的呼吸窘迫、严重低血压、电解质糖代谢紊乱,以及伴有皮肤色素沉着等肾上腺皮质功能不全的表现。患儿病情危重,生后5 d因多脏器功能衰竭抢救无效死亡。基因分析显示患儿SAMD9基因有新发杂合变异c.4598G>A (p.Arg1533Gln),结合相关临床症状诊断为MIRAGE综合征(myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy, MIRAGE syndrome)。MIRAGE综合征可累及多系统,病情危重复杂,早期基因检查识别可指导治疗、改善预后。A female newborn, delivered by cesarean section for oligohydramnios and severe intrauterine growth retardation at gestational age of 30 weeks. She presented progressive severe respiratory distress and symptoms of adrenal insufficiency, such as hyperpigmentation, hypotension, disorder of electrolyte and glucose metabolism soon after birth. The newborn died at the fifth day because of multiple organ failure. Gene analysis showed that there was heterozygous variant in the SAMD9 gene of the newborn(c. 4598G>A, p. Arg1533Gln) and she was diagnosed with MIRAGE syndrome(myelodysplasia, infection, restriction of growth,adrenal hypoplasia, genital phenotypes, and enteropathy). MIRAGE syndrome is usually complex and critical with multisystem disorder. Early identification with genetic testing can help diagnosis and guide treatment, which can improve the prognosis.

关 键 词：MIRAGE综合征 SAMD9基因 肾上腺皮质功能不全 新生儿 

分 类 号：R722.11[医药卫生—儿科]