胰岛素受体基因变异引起新生儿矮妖精貌综合征1例  

Donohue syndrome caused by mutation of insulin receptor gene:a case report

作　　者：费崇汇 俞生林[1] Fei Chonghui;Yu Shenglin(Department of Neonatology,Children's Hospital of Soochow University,Suzhou 215000,China)

机构地区：[1]苏州大学附属儿童医院新生儿科,苏州215000

出　　处：《中华围产医学杂志》2023年第5期423-425,共3页Chinese Journal of Perinatal Medicine

基　　金：江苏省妇幼健康科研项目(F202021)。

摘　　要：本文报道1例矮妖精貌综合征新生儿的诊治经过及短期随访结局。患儿男,11 d,存在明显的胰岛素抵抗(难以控制的高血糖)及特殊面容(头发多而密集、眼距宽和双耳大等)。全外显子组测序发现患儿存在胰岛素受体基因内含子17:c.3258+4A>G及外显子6:c.1321T>A(p.W441R)复合杂合变异,Sanger测序验证分别遗传自父亲和母亲,为可能致病变异。结合临床表现及基因检测结果诊断矮妖精貌综合征可能性大。随访至9月龄,患儿身长发育落后,随机血糖18 mmol/L,有间断低热。This article reported the comprehensive management and short-term follow-up of a neonate diagnosed with Donohue syndrome.The affected male neonate presented with obvious insulin resistance(uncontrollable hyperglycemia)and unusual facies(more hair and dense,wide eye distance,large ears,etc.).Whole exome sequencing revealed a compound heterozygous variant in the insulin receptor gene[c.3258+4A>G in intron 17 and c.1321T>A(p.W441R)in exon 6],and Sanger sequencing confirmed that the mutation was inherited from both parents,which is likely pathogenic mutation.Based on the genetic test results and clinical manifestation,the neonate had a high probability of being diagnosed with Donohue syndrome.During a follow-up of nine months,the baby showed growth and development retardation,intermittent low-grade fever,and the fasting glucose was around 18 mmol/L.

关 键 词：Donohue综合征 胰岛素抵抗 受体 胰岛素 遗传变异 婴儿 新生 

分 类 号：R722.1[医药卫生—儿科]