早老症一家系2例报告及文献回顾

发布时间：2018-02-04 03:36

本文关键词： 早老症 NBAS基因基因突变　出处：《临床儿科杂志》2017年12期 　论文类型：期刊论文

【摘要】：目的分析早老症的临床特征、诊断及治疗。方法回顾同一家系中2例早老症兄弟的临床资料及基因检测结果,并结合文献进行分析。结果先证者15岁,胞弟6岁,分别于4岁及1岁后开始显现早老外观。体质量不足、身材矮小、皮下脂肪减少、鸟型脸(双眼突出、面部皮肤菲薄、头皮静脉显露、鼻成钩型而突出、下颌狭小);躯干及四肢皮肤松弛,关节僵硬,声音尖细等。采用全序列外显子基因测序方法,发现二者均存在NBAS基因复合杂合突变(c.4081CT,c.5741CT),分别遗传自其父亲及母亲。文献复习提示,NBAS基因突变与以身材矮小、视神经萎缩等为主要表型的疾病有较高的相关性。结论报告一家系2例由NBAS基因突变致早老症,兄弟两人同时患早老症,实属罕见。
[Abstract]:Objective to analyze the clinical characteristics, diagnosis and treatment of premature senile disease. Methods the clinical data and gene test results of 2 brothers with prematurity in the same pedigree were reviewed and analyzed in combination with the literature. Results the proband was 15 years old. The younger brother, aged 6, began to show an early and old appearance after 4 and 1 years old respectively. The body was low, the body was short, the subcutaneous fat was decreased, and the bird face (prominent eyes, thin facial skin, and scalp vein exposure). The nose is uncinate and protruding, and the mandible is narrow. The skin of trunk and extremities was relaxed, the joints were stiff, and the sound tip was thin. By the method of full-sequence exon gene sequencing, it was found that there was a compound heterozygous mutation of NBAS gene in both of them (c. 4081CT). C. 5741 CTN, inherited from their parents, respectively. The review of literature suggested that NBAS gene mutation and short stature. Conclusion there is a high correlation between optic atrophy and other major phenotypic diseases. Conclusion it is rare to report two cases of NBAS gene mutation in a pedigree.
【作者单位】：福建中医药大学附属厦门市第三医院儿科;
【分类号】：R725.9
【正文快照】： 早老症(progeria)是一种罕见的遗传性疾病。最早由Hutchinson和Gilford分别于1886年和1904年报道,故又称Hutchinson-Gilford progeria syndrome[1]。早老症发生率为1/8 000 000,全球已有超过100例的报道,目前国内报告有19例(包括本文2例)[2-4]。本文报告福建中医药大学附属厦

【相似文献】