HSD17B4新突变致过氧化物酶体D-双功能蛋白缺乏症一家系并文献复习  

A de novel mutation of the HSD17B4-related peroxisome D-bifunctional protein deficiency in a family and literature review

作　　者：向秋莲 郭虎[1] 高修成[2] 周露露 宋建敏 卢孝鹏[1] Xiang Qiulian;Guo Hu;Gao Xiucheng;Zhou Lulu;Song Jianmin;Lu Xiaopeng(Department of Neurology,Children′s Hospital Affiliated to Nanjing Medical University,Nanjing 210008,China;Department of Radiology,Children′s Hospital Affiliated to Nanjing Medical University,Nanjing 210008,China;Department of Electromyography,Children′s Hospital Affiliated to Nanjing Medical University,Nanjing 210008,China)

机构地区：[1]南京医科大学附属儿童医院神经内科,210008 [2]南京医科大学附属儿童医院放射科,210008 [3]南京医科大学附属儿童医院肌电图室,210008

出　　处：《中华实用儿科临床杂志》2021年第10期772-775,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：目的探讨HSD17B4突变相关的过氧化物酶体D-双功能蛋白缺乏症(PDBPD)的临床与基因特征。方法回顾性分析2020年8月南京医科大学附属儿童医院收治一家系2例HSD17B4突变致PDBPD的临床及基因情况。结果男性先证者及同胞姐姐均伴新生儿癫痫、精神运动发育障碍、共济失调、肌无力、听力损害、足部畸形,血清极长链脂肪酸正常,头颅磁共振成像(MRI)示双侧小脑半球萎缩,肌电图:多发性周围神经神经源性损害肌电改变,听觉诱发电位:重度双侧感音神经性听力损失。基因检测显示HSD17B4复合杂合突变(c.1171G>C,c.686-2A>T),临床确诊为PDBPD,年龄分别为8岁和14岁。结论报道2例HSD17B4突变致PDBPD,均符合典型临床表现。新发现HSD17B4基因c.1171G>C和c.686-2A>T突变,丰富了HSD17B4突变谱。Objective To investigate the clinical and genetic characteristics of peroxisome D-bifunctional protein deficiency(PDBPD)associated with HSD17B4 mutation.Methods The clinical and genetic characteristics of 2 cases of PDBPD in August 2020,at Children′s Hospital Affiliated to Nanjing Medical University caused by HSD17B4 gene mutation were retrospectively analyzed.Results Male proband and his sister suffered from neonatal epilepsy,psychomotor development disorders,ataxia,myasthenia,hearing impairment,and foot deformity.The very long chain fatty acids in serum were normal,and brain magnetic resonance imaging(MRI)showed bilateral cerebellar hemisphere atrophy.Electromyography suggested changes in the myoelectricity of multiple peripheral neurogenic lesions.Auditory evoked potential displayed severe bilateral sensorineural hearing loss.Exome sequencing identified compound heterozygous mutations(c.1171G>C,c.686-2A>T)in HSD17B4.The clinical diagnosis was PDBPD,aged 8 and 14 years,respectively.Conclusions Two cases of HSD17B4 mutation-induced PDBPD were first reported in Chinese mainland,which was in line with its typical clinical manifestations.The newly discovered c.1171G>C and c.686-2A>T mutations enriched the HSD17B4 mutation spectrum.

关 键 词：过氧化物酶体 D-双功能蛋白缺乏症 多发性神经病 感音神经性聋 小脑共济失调 HSD17B4 

分 类 号：R725.9[医药卫生—儿科]