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A 4-bp deletion in the Birt-Hogg-Dubé gene (FLCN) causes dominantly inherited spontaneous pneumothorax.
Birt-Hogg-dube 基因 (FLCN) 的一个 4-bp 缺失导致显性遗传性自觉性气胸。

摘要

Primary spontaneous pneumothorax (PSP), a condition in which air enters the pleural space and causes secondary lung collapse, is mostly sporadic but also occurs in families. The precise etiology of PSP remains unknown, although it is associated with emphysemalike changes (bullae) in the lungs of almost all patients. We describe the results of a genetic study of a large Finnish family with a dominantly inherited tendency to PSP. A genomewide scan suggested linkage to chromosome 17p11. Screening of the best candidate gene, FLCN, revealed a 4-bp deletion in the first coding exon, which causes a frameshift that predicts a protein truncation 50 missense amino acids downstream. All carriers of the deletion had bullous lung lesions. Mutations in FLCN are also responsible for Birt-Hogg-Dubé (BHD) syndrome (a dominantly inherited disease characterized by benign skin tumors, PSP, and diverse types of renal cancer) and, rarely, are detected in sporadic renal and colorectal tumors. Unlike other FLCN mutations, the exon 4 deletion seems to be associated with bullous lung changes only with 100% penetrance. These results suggest that changes in FLCN may have an important role in the development of PSP and, more importantly, of emphysema, a chronic pulmonary disease that often leads to formation of bullous lesions and lowered pulmonary function. Additionally, given the strong association of PSP and BHD, the connection between these conditions needs to be investigated further, particularly in patients with familial PSP, who may be at a greater risk of developing renal cancer.

译文

原发性自觉性气胸 (PSP) 是一种空气进入胸膜间隙并导致继发性肺萎陷的疾病,大部分是偶发的,但也发生在家庭中。PSP 的确切病因仍然未知,尽管它与几乎所有患者的肺气肿样变化 (肺大泡) 有关。我们描述了一个主要遗传 PSP 倾向的芬兰大家庭的遗传学研究结果。全基因组扫描表明与染色体 17p11 连锁。筛选最佳候选基因 FLCN,发现第一个编码外显子有 4 个 bp 的缺失,这导致移码,预测下游的蛋白质截断 50 个错义氨基酸。所有缺失的携带者都有大疱性肺部病变。FLCN 的突变也是 Birt-Hogg-dube (BHD) 综合征 (一种以良性皮肤肿瘤、 PSP 和不同类型的肾癌为特征的显性遗传疾病) 的原因,并且很少, 在散发性肾脏和结肠直肠肿瘤中检测到。与其他 FLCN 突变不同,exon 4 缺失似乎与大疱性肺变化相关,只有 100% 的渗透率。这些结果表明,FLCN 的变化可能在 PSP 的发展中起重要作用,更重要的是,肺气肿, 一种慢性肺部疾病,通常导致大疱性病变的形成和肺功能的下降。此外,鉴于 PSP 和 BHD 之间的密切联系,这些情况之间的联系需要进一步研究,特别是在家族性 PSP 患者中, 谁可能有更大的风险发展为肾癌。

spontaneous pneumothorax

呼吸 胸腔积气 疾病
概述  :  

疾病概述气胸是指气体进入胸膜腔,造成胸腔积气的一种状态。气胸可以自发的发生,也可由于疾病、外伤手术、诊断或治疗性操作不当等引起。临床上自发性气胸较为常见,自发性气胸是指不明原因或因肺部疾病导致的胸腔脏层胸膜破裂,使肺和支气管内空气进入胸膜腔(并非外伤或人工导致壁层胸膜破裂)而产生的气胸。 病因或病理机制自发性气胸按病因和发病机制可分为以下几点。(一)原发性自发性气胸原发性自发性气胸又称为特发性气胸,是指肺部常规X 射线影像检查未能发现原发病变的健康者所发生的气胸,多见于年龄

spontaneous   英 /spɒnˈteɪniəs/   美 /spɑːnˈteɪniəs/ 

释    义   adj. 自发的;自然的;无意识的

同根词   spontaneously adv.自发地;自然地;不由自主地

               spontaneity n. 自发性;自然发生

               spontaneousness n.自然;任意

例    句   So I have come to believe in forgiveness as spontaneous and unwilled. 所以我开始渐渐相信宽恕是自发的、无意识产生的。

 

pneumothorax   英 /,njuːmə(ʊ)'θɔːræks/   美 /,njʊmə'θɔræks/ 

释    义   n. [内科] 气胸

例    句   There were no pneumothorax or other complications during the experiment. 实验过程中无气胸或其他并发症发生。

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