摘要
目的 了解中国大陆地区Lowe综合征的临床表型及基因变异特征。方法 回顾分析1例婴儿期起病的Lowe综合征患儿的临床特点、实验室检查和基因检测结果,检索相关文献并进行总结分析。结果 患儿7月龄时眼科诊断为先天性白内障及青光眼,11月龄仍不会翻身,不能独坐。头颅磁共振成像(MRI)提示双侧侧脑室稍大,双侧额颞部脑沟稍宽。数月内肾功能快速进展,12月龄肾脏彩超提示双肾多发结石,肾小管功能蛋白检测均升高。基因检测提示为OCRL基因第13号外显子存在一处新发移码突变chrX:128699804 c.1300-1310del(p.Glu434fs)。检索到中国大陆地区报道的相关文献共46例患者,患者的临床表型相似,主要表现为先天性白内障、精神运动发育迟缓、蛋白尿等。结论 发现未见报道的Lowe综合征的OCRL基因p.Glu434fs变异。对于有先天性白内障、脑发育迟缓及肾小管病变的患儿,需高度考虑Lowe综合征,及时进行遗传学检测。
Objective To analyze the clinical and genetic characteristics of Lowe syndrome in Chinese children.Methods The clinical data and genetic test results of a child with Lowe syndrome were retrospectively analyzed, and relevant literature was summarized and analyzed. Results The patient was diagnosed with congenital cataract and glaucoma in ophthalmology at the age of 7 months, and at the age of 11 months he could not turn over and sit alone. Head MRI showed that bilateral lateral ventricles were slightly larger and bilateral frontotemporal sulcus was slightly wider. Renal function progressed rapidly over several months, kidney color Doppler ultrasound showed multiple stones in both kidneys at the age of 12months. The detection of renal tubular functional protein increased. Gene detection indicated that there was a frameshift mutation chrx: 128699804 c.1300-1310del(p. Glu434fs) in exon 13 of OCRL gene, which had not been reported before. A total of 46 Chinese patients with Lowe syndrome were found in literature. The common clinical phenotypes of the patients are congenital cataract, psychomotor retardation and proteinuria. Conclusion Lowe syndrome was definitely diagnosed in this child,and OCRL p.Glu434fs was the genetic cause of this child. For children with congenital cataract, brain retardation and renal tubular diseases, Lowe syndrome should be highly considered and genetic testing should be carried out in time.
作者
付俊一
刘艳
FU Junyi;LIU Yan(Department of Pediatrics,Tongji Hospital,Tongji Medical College of Huazhong University of Science and Technology,Wuhan,Hubei 430030,China)
出处
《中国优生与遗传杂志》
2022年第10期1748-1754,共7页
Chinese Journal of Birth Health & Heredity
