成人先天性角化不良肺受累1例临床特征分析并文献复习

发布时间：2018-05-06 16:37

本文选题：先天性角化不良肺受累 + 肺纤维化　；参考：《广西医科大学》2017年硕士论文

【摘要】：目的:探讨成人先天性角化不良(Dyskeratosis congenita,DC)肺受累的临床特点,提高临床认识及诊疗水平,减少漏诊、误诊。方法:对在我院住院确诊的1例成人DC肺受累患者的临床表现、病理学、影像学、肺功能及家族史等进行回顾性分析,结合国内外相关文献进行复习,探讨肺受累DC的临床特点。结果:(1)本例为男性,38岁,主要症状为干咳、活动后气促。查体面部、颈部、前胸部皮肤可见毛细血管扩张。部分牙齿脱落。舌黏膜白斑。胫前皮肤可见色素沉着。趾甲轻度营养不良。双肺呼吸音粗,未闻及Velcro音。有非重型再生障碍性贫血。肺部高分辨率CT及组织病理符合UIP表现。肺功能表现为轻度限制性通气功能障碍及轻度弥散功能障碍。予激素治疗有效。家族中母亲与弟弟为可疑先天性角化不良患者。(2)文献复习结果:查找从1992年1月至2016年12月国内外中英文肺受累DC的病例报道,共检索文献15篇。总计16例患者,男11例(64%),女性有5例(36%),年龄最小为9岁,最大为48岁。平均肺受累的发病年龄为28.31岁,纳入起病后存活的有9例,起病后平均存活时间为16.2个月。主要症状为咳嗽、活动后气促。主要体征为皮肤色素网状沉着、黏膜白斑、甲营养不良,部分患者肺部可闻及Velcro音。肺组织病理学及胸部HRCT均为UIP改变。肺功能提示不同程度的限制性通气功能障碍和/或弥散功能障碍。部分患者对激素治疗有效。行肺移植1例,18个月后随访患者症状及肺功能好转。使用达那唑1例,2年后死于败血症。结论:(1)DC肺受累临床少见,部分患者起病隐匿,进展缓慢。(2)DC肺受累患者以咳嗽、活动后气促起病,部分患者肺部可闻及Velcro音。(3)DC肺受累患者典型影像学及病理学表现为UIP,肺功能表现为通气功能障碍和(或)弥散功能障碍。(4)本例患者存在TERT、TCAB1基因位点突变,可能为致病基因。(5)部分患者对激素有效。
[Abstract]:Objective: to investigate the clinical features of lung involvement in adult dyskeratosis and dyskeratosis, to improve the clinical understanding and diagnosis and treatment, to reduce missed diagnosis and misdiagnosis. Methods: the clinical manifestations, pathology, imaging, pulmonary function and family history of a case of adult DC lung involvement diagnosed in our hospital were retrospectively analyzed. Objective: to investigate the clinical features of lung involved DC. Results this case is 38 years old male. The main symptom is dry cough and shortness of breath after exercise. Capillary dilatation can be seen on the face, neck and anterior chest skin. Part of the teeth fell out. Leukoplakia of tongue mucosa. Pigmentation can be seen in the anterior tibial skin. Mild malnutrition in toenails. The respiratory tone of both lungs was thick and Velcro was not heard. There is non-severe aplastic anemia. Lung high resolution CT and histopathology were consistent with UIP findings. Pulmonary function showed mild restrictive ventilation dysfunction and mild diffuse dysfunction. Hormone therapy is effective. Results: from January 1992 to December 2016 cases of lung involvement DC in Chinese and English from January 1992 to December 2016 were reported. A total of 15 papers were searched. A total of 16 patients, 11 males and 5 females, aged 9 years and 48 years, respectively. The mean age of lung involvement was 28.31 years old, 9 cases survived after onset, and the mean survival time was 16.2 months. The main symptoms are cough and shortness of breath after exercise. The main signs were skin pigmented reticulation, mucosal leukoplakia and nail dystrophy. Some patients could hear Velcro in the lungs. Lung histopathology and chest HRCT were all UIP changes. Pulmonary function suggests different degrees of restrictive ventilation dysfunction and / or diffusion dysfunction. Some patients are effective in hormone therapy. Lung transplantation was performed in 1 case, and the symptoms and pulmonary function were improved after 18 months follow-up. Danazol was used in 1 case and died of septicemia 2 years later. Conclusion the lung involvement of DC patients is rare in clinic. Some of the patients have hidden onset and slow progression. The patients with lung involvement have cough and dyspnea after exercise. In some patients, the typical imaging and pathological manifestations of lung involvement were Velcro, and the pulmonary function was characterized by ventilation dysfunction and / or diffusion dysfunction. There was a mutation of TERTTCAB1 gene locus in this patient. It may be a pathogenic gene. 5) some patients are effective to hormone.
【学位授予单位】：广西医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R563;R596

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