摘要

Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations identified to date involve the heavy (dynein axonemal heavy chain 5) or intermediate(dynein axonemal intermediate chain 1) chain dynein genes in ciliary outer dynein arms, although a few mutations have been noted in other genes. Clinical molecular genetic testing for primary ciliary dyskinesia is available for the most common mutations. The respiratory manifestations of primary ciliary dyskinesia (chronic bronchitis leading to bronchiectasis, chronic rhino-sinusitis, and chronic otitis media)reflect impaired mucociliary clearance owing to defective axonemal structure. Ciliary ultrastructural analysis in most patients (>80%) reveals defective dynein arms, although defects in other axonemal components have also been observed. Approximately 50% of patients with primary ciliary dyskinesia have laterality defects (including situs inversus totalis and, less commonly, heterotaxy, and congenital heart disease),reflecting dysfunction of embryological nodal cilia. Male infertility is common and reflects defects in sperm tail axonemes. Most patients with primary ciliary dyskinesia have a history of neonatal respiratory distress, suggesting that motile cilia play a role in fluid clearance during the transition from a fetal to neonatal lung. Ciliopathies involving sensory cilia, including autosomal dominant or recessive polycystic kidney disease, Bardet-Biedl syndrome, and Alstrom syndrome, may have chronic respiratory symptoms and even bronchiectasis suggesting clinical overlap with primary ciliary dyskinesia.

译文

原发性纤毛运动障碍是一种遗传异质性的活动纤毛疾病。迄今为止,大多数被鉴定的致病突变都涉及纤毛外动力臂中的重 (动力蛋白轴突重链 5) 或中间 (动力蛋白轴突中间链 1) 链动力蛋白基因, 尽管在其他基因中有一些突变。原发性纤毛运动障碍的临床分子基因检测可用于最常见的突变。原发性纤毛运动障碍 (导致支气管扩张的慢性支气管炎、慢性鼻-鼻窦炎和慢性中耳炎) 的呼吸表现反映了由于轴索结构缺陷而导致的粘膜纤毛清除受损。大多数患者 (> 80%) 的纤毛超微结构分析揭示了有缺陷的动力臂,尽管也观察到其他轴突成分的缺陷。大约 50% 的原发性纤毛运动障碍患者有侧性缺陷 (包括仰卧起坐和较不常见的异源性和先天性心脏病),反映了胚胎学淋巴结纤毛的功能障碍。男性不育是常见的,反映了精子尾部轴突的缺陷。大多数患有原发性纤毛运动障碍的患者都有新生儿呼吸窘迫的历史,这表明活动纤毛在从胎儿到新生儿肺的过渡过程中发挥了液体清除的作用。涉及感觉纤毛的纤毛病,包括常染色体显性或隐性遗传性多囊卵巢综合征、 Bardet-Biedl 综合征和 Alstrom 综合征,可能有慢性呼吸道症状,甚至支气管扩张,提示临床与原发性纤毛运动障碍重叠。

Kartagener syndrome

呼吸 家族性支气管扩张 疾病
概述  :  

卡塔格内综合征又称家族性支气管扩张。它是一种内脏转位、鼻窦炎和支气管扩张三者并存的先天性疾病。 病因 与遗传因素有关,或是胎儿时期受到某种不利因素的影响,可能属于先天性常染色体隐性遗传。 临床表现 本病多见于10~21岁青少年,无性别差异。咳嗽、咳痰多见,随年龄增长而加重,易并发肺炎、鼻炎、鼻窦炎(上颌窦炎、筛窦炎多见)和鼻息肉。本病常合并其他畸形,如鼻窦发育不全、乳突发育不全、耳聋、结肠冗长症、心脏先天性

Kartagener

释    义   卡塔格内

例    句   There is a condition called immotile cilia syndrome (or Kartagener syndrome) found in some Bichons that causes the dogs to have multiple symptoms. 在一些比熊身上发现了一种叫做不动纤毛综合症(或卡塔格内综合症)的疾病,这种疾病会导致狗出现多种症状。

 

Syndrome   英 /ˈsɪndrəʊm/   美 /ˈsɪndroʊm/

释    义   n. [临床] 综合症状;并发症状;校验子

例    句   From Down syndrome to autism, the disabilities that exclude children from most cheerleading squads have brought them together in this one. 从唐氏综合症到自闭症,把孩子们排除在啦啦队之外的残疾让他们聚在了一起。

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