内分泌
词汇介绍
拓展阅读
解析
mucopolysaccharidosis 英 /'mju:kəu,pɔli,sækərai'dəusis/
释 义 n. 黏多糖病(指任何一种涉及黏多糖先天性代谢紊乱的疾病)
例 句 Objective To probe criteria for diagnosing mucopolysaccharidosis using X-ray.果糖的什么化学性质可以解释这两个观察事实?目的探讨粘多糖贮积症的X线诊断要点。
概述
概述
黏多糖贮积病是一组代谢紊乱,是由分解称为糖胺聚糖(GAGs)分子所需的溶酶体酶的缺失或功能异常引起的。粘多糖贮积酶是溶酶体贮积病家族的一部分,溶酶体贮积病家族是由40多种遗传性疾病组成的群体,当动物细胞中的溶酶体细胞器发生故障时会导致这种疾病。溶酶体可以被认为是细胞的回收中心,因为它会将不需要的物质加工成细胞可以利用的其他物质。溶酶体通过酶(对生存至关重要的高度专门化的蛋白质)分解这种有害物质。当一种特定的酶的量太少或完全缺失时,就会引发溶酶体疾病,如粘多糖贮积症。
临床表现
粘多糖酶具有许多临床特征,但严重程度不同。这些特征在出生时可能并不明显,但随着GAG的储存影响骨骼,骨骼结构,结缔组织和器官而发展。神经系统并发症可能包括对神经元的损害以及疼痛和运动功能受损。这是由于脊髓或周围神经系统(连接大脑和脊髓的神经系统部分)中的神经或神经根受压所致 。
根据粘多糖贮积病的亚型,受影响的个体可能具有正常的智力或认知障碍,可能经历发育迟缓,或可能患有严重的行为问题。许多人的听力受损,要么是传导性的,要么是神经感觉的,或者两者兼而有之。在某些黏多糖贮积酶中,经常发生沟通性脑积水(脑脊髓液的正常再吸收受阻,导致头部内部压力升高)。通过外科手术将分流器插入大脑可以排出液体。眼睛的角膜经常因细胞内储存而变得浑浊,并且青光眼和视网膜变性也可能影响患者的视力。
身体症状通常包括粗犷的面部特征(包括平坦的鼻梁,厚实的嘴唇以及扩大的嘴和舌头),身材矮小,躯干短小(侏儒症),发育不良(异常的骨骼大小和/或形状)以及其他骨骼异常,皮肤增厚,肝脏(肝肿大)或脾脏(脾肿大)等器官增大,疝气和过多的体毛生长。短而往往呈爪状的手,进行性关节僵硬和腕管综合症会限制手的活动性和功能。反复出现呼吸道感染是常见的,阻塞性气道疾病和阻塞性睡眠呼吸暂停也很常见。
诊断
诊断通常可以通过临床检查和尿液检查来进行。酶测定法(测试培养物中多种细胞或体液中的酶缺乏症)也可用于确定一种粘多糖酶。使用羊膜穿刺术和绒毛膜绒毛取样进行产前诊断可以验证胎儿是否携带缺陷基因或是否患有该疾病。遗传咨询可以帮助具有粘多糖贮积酶家族史的父母确定他们是否携带导致疾病的突变基因。
治疗
目前尚无法治愈这类疾病。医疗保健旨在治疗全身状况并改善人的生活质量,物理治疗和日常运动可能会延迟关节问题并提高活动能力。饮食结构的改变不会阻止疾病的发展,去除扁桃体和腺样体的手术可能会改善患有阻塞性气道疾病和睡眠呼吸暂停的受影响个体的呼吸。睡眠研究可以评估呼吸道状况以及夜间可能的氧气需求。一些患者可能需要手术插入气管内插管以帮助呼吸。手术还可以矫正疝气,帮助从大脑排出过多的脑脊液,以及释放骨骼和其他异常压迫的游离神经和神经根。角膜移植可改善患有严重角膜混浊的患者的视力。
Epilepsy in mucopolysaccharidosis disorders复制标题
粘多糖贮积症的癫痫
发表时间:2017-12-01
影响指数:3.6
作者: Maurizio Scarpa
期刊:Mol Genet Metab
Currently available literature shows that epilepsy is a frequent manifestation of MPS disorders, occurring in approximately 30% of patients. Patients with MPS I and, particularly, MPS II and III are most prone to develop epilepsy. Seizures in MPS patients are mostly tonicclonic, but myoclonic, absence, focal seizures, non-convulsive status epilepticus, nocturnal myoclonic jerks, and frontal lobe epilepsy have been reported as well, although less frequently. The incidence and severity of seizure activity on EEG recordings tends to increase with disease progression. Detection of epileptic activity in MPS patients can be difficult as seizures can be subtle and may be difficult to recognize in patients who already have cognitive deficits and behavioral problems. This highlights the importance of regular monitoring of epileptic activity in these Supplement MPS and the brain Epilepsy in MPS 16 patients, ideally with (video-)EEG (potentially combined with PSG), to detect changes in electrical activity. Despite the high prevalence and debilitating nature of epilepsy in MPS patients, current literature on the pathophysiology, clinical presentation, and treatment of seizures in these patients remains extremely limited. As seizure activity and changes in cognition and behavior seem to be intertwined, the mutual interaction between both manifestations (including the potential role of hydrocephalus) requires further investigation. In addition, the association between nocturnal seizures and non-respiratory sleep disorders, which very commonly occur in MPS II and MPS III patients, deserves more attention. Finally, there is need for more clinical data about the effects and side effects of different AEDs in MPS patients. In order to broaden current knowledge, researchers should be encouraged to publish their experiences with epilepsy in MPS patients.
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