3例FGFR3基因变异致儿童软骨发育低下并文献复习  

Three Cases of FGFR3 Gene Mutation Causing Low Cartilage Development in Children and Literature Review

作　　者：曾凡华 陈鸿耀 Zeng Fanhua;Chen Hongyao(Department of Surgery,Chongai Rehabilitation Hospital,Guangzhou,Guangdong 510030,China.)

机构地区：[1]广东崇爱康复医院外科,广东广州510030

出　　处：《四川医学》2024年第10期1127-1130,共4页Sichuan Medical Journal

摘　　要：目的总结3例FGFR3基因变异致软骨发育低下患儿的临床特点并文献复习。方法回顾性分析我院3例来自不同家系的软骨发育低下患儿的临床特征、实验室和影像学结果,以及基因测序等资料,并进行了相关文献回顾分析。结果3例患儿中,男2例,女1例,年龄4~12岁,均以生长缓慢就诊。出生时身高和体质量正常,1岁开始身高和体质量逐渐落后于同龄儿。主要临床表现为身材矮小、四肢稍短,指/趾粗短;2例智力正常,1例学习困难;2例轻微大头畸形;影像学可见长骨短,干骺端增宽、腰椎轻微前凸;基因测序发现3例患儿均携带FGFR3基因已知致病变异,分别是c.1620C>A(2例)和c.1620C>G(1例),导致第540号氨基酸由天冬氨酸变为赖氨酸(p.N540K)。文献复习发现,软骨发育低下主要由FGFR3基因在c.1620位点变异导致,症状轻微,临床多以身材矮小而不是以骨骼疾病就诊。结论软骨发育低下患儿以生长缓慢为主,伴有轻微骨骼异常,因此容易误诊和漏诊,影像学检查和全外显子基因测序可协助确诊。Objective To summarize clinical features of 3 children with hypochondroplasia caused by FGFR3 gene mutation and further review relevant literatures.Methods Clinical features,laboratory and imaging results,and gene sequencing of 3 children with hypochondroplasia from different families were retrospectively analyzed,and relevant literatures were reviewed and analyzed.Results Total 3 children with hypochondroplasia were recruited,2 male and 1 female,aged 4~12 years old.All 3 children presented with growth retardation.The length and body weight of them were normal at birth,and gradually fell behind children of the same age since the age of 1.The main clinical manifestations were short stature,slightly shorter limbs,and stubby fingers/toes.2 cases had normal intelligence,whereas 1 case had learning difficulties.2 cases had mild macrocephaly.X-Ray imaging showed short long bones,widened metaphysis,and slight lumbar lordosis.Gene sequencing revealed that all 3 children had known pathogenic variants of FGFR3 gene,c.1620C>A(2 cases)and c.1620C>G(1 case),which resulted in the change of amino acid No.540 from aspartic acid to lysine(p.N540K).Literature review showed that hypochondroplasia was caused mostly by variants at the site c.1620 of the FGFR3 gene.The symptoms of hypochondroplasia were often mild,and clinical diagnosis was mostly initiated due to short stature rather than skeletal diseases.Conclusion Children with hypochondroplasia mainly show slow growth and may be accompanied by minor skeletal abnormalities,so they may be misdiagnosed.Whole-exome gene sequencing can assist in the diagnosis.

关 键 词：软骨发育低下 儿童 FGFR3 临床特点 

分 类 号：R681[医药卫生—骨科学]