發(fā)布時(shí)間：2018-05-06 16:37

  本文選題：先天性角化不良肺受累 + 肺纖維化�。� 參考：《廣西醫(yī)科大學(xué)》2017年碩士論文

【摘要】：目的:探討成人先天性角化不良(Dyskeratosis congenita,DC)肺受累的臨床特點(diǎn),提高臨床認(rèn)識(shí)及診療水平,減少漏診、誤診。方法:對(duì)在我院住院確診的1例成人DC肺受累患者的臨床表現(xiàn)、病理學(xué)、影像學(xué)、肺功能及家族史等進(jìn)行回顧性分析,結(jié)合國(guó)內(nèi)外相關(guān)文獻(xiàn)進(jìn)行復(fù)習(xí),探討肺受累DC的臨床特點(diǎn)。結(jié)果:(1)本例為男性,38歲,主要癥狀為干咳、活動(dòng)后氣促。查體面部、頸部、前胸部皮膚可見毛細(xì)血管擴(kuò)張。部分牙齒脫落。舌黏膜白斑。脛前皮膚可見色素沉著。趾甲輕度營(yíng)養(yǎng)不良。雙肺呼吸音粗,未聞及Velcro音。有非重型再生障礙性貧血。肺部高分辨率CT及組織病理符合UIP表現(xiàn)。肺功能表現(xiàn)為輕度限制性通氣功能障礙及輕度彌散功能障礙。予激素治療有效。家族中母親與弟弟為可疑先天性角化不良患者。(2)文獻(xiàn)復(fù)習(xí)結(jié)果:查找從1992年1月至2016年12月國(guó)內(nèi)外中英文肺受累DC的病例報(bào)道,共檢索文獻(xiàn)15篇�？傆�(jì)16例患者,男11例(64%),女性有5例(36%),年齡最小為9歲,最大為48歲。平均肺受累的發(fā)病年齡為28.31歲,納入起病后存活的有9例,起病后平均存活時(shí)間為16.2個(gè)月。主要癥狀為咳嗽、活動(dòng)后氣促。主要體征為皮膚色素網(wǎng)狀沉著、黏膜白斑、甲營(yíng)養(yǎng)不良,部分患者肺部可聞及Velcro音。肺組織病理學(xué)及胸部HRCT均為UIP改變。肺功能提示不同程度的限制性通氣功能障礙和/或彌散功能障礙。部分患者對(duì)激素治療有效。行肺移植1例,18個(gè)月后隨訪患者癥狀及肺功能好轉(zhuǎn)。使用達(dá)那唑1例,2年后死于敗血癥。結(jié)論:(1)DC肺受累臨床少見,部分患者起病隱匿,進(jìn)展緩慢。(2)DC肺受累患者以咳嗽、活動(dòng)后氣促起病,部分患者肺部可聞及Velcro音。(3)DC肺受累患者典型影像學(xué)及病理學(xué)表現(xiàn)為UIP,肺功能表現(xiàn)為通氣功能障礙和(或)彌散功能障礙。(4)本例患者存在TERT、TCAB1基因位點(diǎn)突變,可能為致病基因。(5)部分患者對(duì)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.
【學(xué)位授予單位】：廣西醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類號(hào)】：R563;R596

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