FBN1基因突变致Geleophysic发育不良2型病例报告  

A case report of Geleophysic dysplasia type 2 caused by mutation of FBN1 gene

作　　者：石鸿娇 张祎俐 赵彤 崔岚巍[1] SHI Hongjiao;ZHANG Yili;ZHAO Tong;CUI Lanwei(Department of Pediatrics,The First Affiliated Hospital of Harbin Medical University,Harbin,Heilongjiang 150000,China)

机构地区：[1]哈尔滨医科大学附属第一医院儿科,黑龙江哈尔滨150000

出　　处：《中国优生与遗传杂志》2022年第9期1656-1658,共3页Chinese Journal of Birth Health & Heredity

基　　金：国家重点研发计划重大慢性非传染性疾病防控研究(2016YFC1305301)。

摘　　要：目的分析1例哈尔滨医科大学附属第一医院儿科门诊就诊的智力正常、身材矮小患儿的矮小原因。方法嘱患儿完善相关检查及检验,根据患儿临床表现及辅助检查结果进行总结。结果2岁9月男患,因“身材矮小”就诊,主要表现为身材矮小、特殊面容等,基因检测发现患儿FBN1基因存在杂合突变,导致第1748号氨基酸由半胱氨酸变为苯丙氨酸(p.C1748F)。检验提示血清胰岛素、C肽水平下降,甲功甲状腺球蛋白抗体升高,超敏促甲状腺素升高,血常规血红蛋白稍低,肿瘤系列CEA升高,碱性磷酸酶稍增高,其余检验未见明显异常。内脏超声提示患儿肝实质回声增粗、甲状腺超声提示甲状腺弥漫性病变。X线平片、双肺CT、心脏超声、泌尿系超声无异常。结论患儿符合Geleophysic发育不良2型的诊断。Objective To analyze the reason of short stature in a patient with normal intelligence and short stature who was admitted to the pediatric outpatient department of the First Affiliated Hospital of Harbin Medical University.Methods The children were instructed to improve the relevant examinations and tests,and to make a summary based on the clinical manifestations and auxiliary examination results of the children.Results A 2-year-old,9-month-old male patient went to the doctor because of"short stature",mainly manifested as short stature and special face,etc.Genetic testing revealed that the patient had a heterozygous mutation in the FBN1 gene,resulting in the change of amino acid 1748 from cysteine to phenylalanine(p.C1748F).The test showed that serum insulin and C-peptide levels decreased,thyroglobulin antibody increased,thyrotropin increased,blood routine hemoglobin was slightly lower,tumor series CEA increased,and biochemical alkaline phosphatase increased slightly.The rest of the tests showed no obvious abnormality.Visceral ultrasound showed that the echogenicity of the liver parenchyma was enlarged,thyroid ultrasound showed diffuse thyroid lesions.X-ray plain film,bilateral lung CT,echocardiography,and urinary system ultrasound showed no abnormality.Conclusion The child was diagnosed with Geleophysic dysplasia type 2.

关 键 词：GD2 FBN1 身材矮小 

分 类 号：R725.9[医药卫生—儿科]