Hirschsprung's disease: a more generalised neuropathy?
Hirschsprung's disease: a more generalised neuropathy?
复制标题
先天性巨结肠：一种更广泛的神经病？
作者：
W. Cheng;D. Au;C. Knowles;P. Anand;P. Tam
背景/目的
异常神经嵴迁移与先天性巨结肠后肠神经节细胞缺乏症的发病机制有关。神经嵴祖细胞还在肠道外产生多种细胞类型，包括内耳和外周神经系统的神经。本研究旨在确定这些神经是否也受到HSCR的影响。
方法
对53例先天性巨结肠症患者和28例年龄匹配的对照者进行纯音测听和耳声发射测试。42名先天性巨结肠患儿和30名年龄匹配的对照组也接受了神经系统评估，包括感觉功能的定量外周测试。
结果
在先天性巨结肠组的4名儿童（8%）中检测到中度至重度感音神经性听力损失（1例深度[Waardenburg综合征]和3例高频）。HSCR组102耳中有77耳（51例患者中有41例）检测到异常（缺失或减少）耳声发射，对照组48耳中有8耳（24例儿童中有6例）检测到异常（75% vs17%; P<0.0001）。两名HSCR儿童在外周神经功能测试中有明显异常。与对照组相比，HSCR中检测到的振动感觉阈值显着更高（P<.05）。
结论
先天性巨结肠可能有一个更广泛的神经病变，而不仅仅是涉及受影响的肠道。
BACKGROUND/PURPOSE
Aberrant neural crest migration is implicated in the pathogenesis of hindgut aganglionosis in Hirschsprung's disease (HSCR). Neural crest progenitors also give rise to a variety of cell types outside the gut, including nerves of the inner ear and peripheral nervous system. This study aims to determine whether such nerves are also affected in HSCR.
METHODS
Pure tone audiometry and oto-acoustic emission tests were performed on 53 patients with Hirschsprung's disease and 28 age-matched controls. Forty-two children with Hirschsprung's disease and 30 age-matched controls also underwent neurologic evaluation, including quantitative peripheral tests of sensory function.
RESULTS
Moderate to severe sensorineural hearing loss (1 profound [Waardenburg syndrome] and 3 high frequency) was detected in 4 children (8%) from the Hirschsprung's group. Abnormal (absent or reduced) oto-acoustic emission was detected in 77 of 102 ears (41 of 51 patients) in the HSCR group and 8 out of 48 ears (6 of 24 children) in the control group (75% v 17%; P<.0001). Two HSCR children had marked abnormalities on tests of peripheral nerve function. Significantly higher thresholds for vibration sensation were detected in HSCR versus controls (P<.05).
CONCLUSION
Hirschsprung's disease may have a more generalised neuropathy than just that involving the affected bowel.
神经生成细胞因子促进肠神经元和神经胶质细胞的发育：与神经营养素 3 的相互作用。
DOI：
--
发表时间：
1998
期刊：
Developmental biology.
影响因子：
--
作者：
Chalazonitis,A;Rothman,TP;Chen,J;Vinson,EN;MacLennan,AJ;Gershon,MD
通讯作者：
Gershon,MD
通过腺病毒介导的神经胶质细胞系衍生的神经营养因子的过度表达来保护毛细胞免受氨基糖苷类耳毒性。
DOI：
10.1089/10430349950018562
发表时间：
1999
期刊：
Human gene therapy.
影响因子：
--
作者：
Yagi,M;Magal,E;Sheng,Z;Ang,KA;Raphael,Y
通讯作者：
Raphael,Y
人类染色体 13q22 上先天性巨结肠症隐性基因的血统同一性和关联作图。
影响因子：
3.5
作者：
Puffenberger,EG;Kauffman,ER;Bolk,S;Matise,TC;Washington,SS;Angrist,M;Weissenbach,J;Garver,KL;Mascari,M;Ladda,R
通讯作者：
Ladda,R