Kartagener 綜合征四例報告并文獻復習_Chinese Journal of Respiratory and Critical Care Medicine

Authors：

張鴻玲 ,  趙生濤 , 樊滿齊

中國人民解放軍聯勤保障部隊第九二〇醫院呼吸內科（云南昆明 ?650032）;

Corresponding?author：

趙生濤, Email: zhaostkm@163.com

Keywords：

Kartagener 綜合征; 內臟轉位; 支氣管擴張; 鼻竇炎

DOI：

10.7507/1671-6205.201808006

Video：

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目的探討 Kartagener 綜合征的臨床特點，提高該病的診治水平。方法回顧本院呼吸內科收治的 4 例 Kartagener 綜合征患者的臨床資料，綜合復習相關文獻后進行分析。結果 4 例 Kartagener 綜合征中，男 3 例，女 1 例，年齡 24～51 歲。1 例父母為表兄妹近親結婚。患者均因咳嗽、咳痰，伴或不伴咯血痰、胸悶、氣促、喘息、浮腫、發熱等癥狀就診。1 例在外院確診 Kartagener 綜合征、肺源性心臟病，余 3 例 CT 影像等檢查提示存在內臟轉位、支氣管擴張、鼻竇炎三聯征，入院后確診 Kartagener 綜合征。4 例均給抗感染、祛痰、分泌物引流治療，合并肺源性心臟病者予以無創呼吸機輔助通氣、抗心力衰竭等治療后，病情緩解出院。復習國內外文獻，咳嗽、咳痰、咯血、氣促是 Kartagener 綜合征就診的主要癥狀；預防感染、及時控制感染是治療 Kartagener 綜合征的關鍵。隨著對 Kartagener 綜合征的基因遺傳學研究的深入，有望尋找到有效的辦法以早期診斷，有效治療，甚至減少發病。結論 Kartagener 綜合征是一種以內臟轉位、支氣管擴張、鼻竇炎為表現的罕見的先天遺傳性疾病。提高臨床醫生對該病的認識，早期診斷，綜合治療，有效控制慢性氣道炎癥，是控制疾病進展、改善預后的有效方法。

Citation： 張鴻玲, 趙生濤, 樊滿齊. Kartagener 綜合征四例報告并文獻復習. Chinese Journal of Respiratory and Critical Care Medicine, 2019, 18(4): 384-388. doi: 10.7507/1671-6205.201808006 Copy

1.	Dhar DK, Ganguly KC, Alam S, et al. Kartagener’s syndrome. Mymensingh Med J, 2009, 18(1): 75-79.
2.	Teknos TN, Metson R, Chasse T, et al. New developments in the diagnosis of Kartagener's syndrome. Otolaryngol Head Neck Surg, 1997, 116(1): 68-74.
3.	劉鋒, 常靜. Kartagener 綜合征 1 例. 第三軍醫大學學報, 2005, 27(7): 595.
4.	秦天娥, 陳小燕, 王茂筠. 卡塔格內綜合征. 臨床薈萃, 2006, 21(20): 1517-1518.
5.	Eliasson R, Mossberg B, Cammer P, et al. The immotile-cilia syndrome. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility. N Engl J Med, 1977, 297(1): 1-6.
6.	Rossman CM, Forrest JB, Lee RM, et al. The dyskinetic cilia syndrome. Ciliary motility in immotile cilia syndrome. Chest, 1980, 78(4): 580-582.
7.	Butterfield R. Primary ciliary dyskinesia. Pediatr Rev, 2017, 38(3): 145-146.
8.	Praveen K, Davis EE, Katsanis N. Unique among ciliopathies:primary ciliary dyskinesia,a motile cilia disorder. F1000Prime Rep, 2015, 7: 36.
9.	靳雨婷, 陳星, 王金榮, 等. 中外兒童 Kartagener 綜合征的診斷特點分析. 中華兒科雜志, 2015, 53(11): 850-854.
10.	楊思林. Kartagener 綜合征. 醫師進修雜志, 1989, (4): 44-45.
11.	賈雄, 方燕燕, 劉曉紅, 等. Kartagener 綜合征的影像學診斷價值. 臨床軍醫雜志, 2014, 42(11): 1181-1182.
12.	羅朝峰, 張海勝, 張曉瑋, 等. Kartagener 綜合征的 CT 影像學特征. 中華實用診斷與治療雜志, 2016, 30(1): 94-95.
13.	Mirra V, Werner C, Santamaria F. Primary ciliary dyskinesia: an update on clinical aspects, genetics, diagnosis, and future treatment strategies. Front Pediatr, 2017, 5: 135.
14.	She YW, Ding L, Li P. Management of primary ciliary dyskinesia/Kartagener’s syndrome in infertile male patients and current progress in defining the underlying genetic mechanism. Asian J Androl, 2014, 16(1): 101-106.
15.	徐保平, 申昆玲, 申阿東, 等. Kartagener 綜合征 DNAI1、DNAH5 基因研究. 中國實用兒科雜志, 2008, 23(12): 934-937.
16.	張靜, 白銀, 尤少華, 等. Kartagener 綜合征合并分泌性中耳炎患者的基因診斷. 中華耳科雜志, 2014, 12(1): 41-44.
17.	Kennedy MP, Noone PG, Leigh MW, et al. High-resolution CT of patients with primary ciliary dyskinesia. Am J Roentgenol, 2007, 188(5): 1232-1238.
18.	張斌, 李強, 李培. 以彌漫細支管炎為主要表現的 Kartagener 綜合征 9 例分析. 醫學影像學雜志, 2015, 25(7): 1296-1298.
19.	童皖寧, 孫星. Kartagener 綜合征合并肺炎球菌性肺炎 1 例. 臨床軍醫雜志, 2015, 43(1): 109-110.
20.	Ben Saad S, Maalej S, Aouadi S, et al. Kartagener syndrome: management and prognosis. Tunis Med, 2014, 92(4): 293-295.
21.	談粉祥. Kartagener 綜合征并發肺源性心臟病 1 例. 中國臨床醫生, 2012, 40(8): 79-80.
22.	Kido T, Yatera K, Yamasaki K, et al. Two cases of primary ciliary dyskinesia with different responses to macrolide treatment. Intern Med, 2012, 51(9): 1093-1098.
23.	Yoshioka D, Sakamoto N, Ishimatsu Y, et al. Primary ciliary dyskinesia that responded to long-term, low-dose clarithromycin. Intern Med, 2010, 49(14): 1437-1440.
24.	楊海華, 李善群, 金先橋, 等. Kartagener 綜合征 2 例及文獻復習. 國際呼吸雜志, 2015, 35(11): 853-856.

1. Dhar DK, Ganguly KC, Alam S, et al. Kartagener’s syndrome. Mymensingh Med J, 2009, 18(1): 75-79.
2. Teknos TN, Metson R, Chasse T, et al. New developments in the diagnosis of Kartagener's syndrome. Otolaryngol Head Neck Surg, 1997, 116(1): 68-74.
3. 劉鋒, 常靜. Kartagener 綜合征 1 例. 第三軍醫大學學報, 2005, 27(7): 595.
4. 秦天娥, 陳小燕, 王茂筠. 卡塔格內綜合征. 臨床薈萃, 2006, 21(20): 1517-1518.
5. Eliasson R, Mossberg B, Cammer P, et al. The immotile-cilia syndrome. A congenital ciliary abnormality as an etiologic factor in chronic airway infections and male sterility. N Engl J Med, 1977, 297(1): 1-6.
6. Rossman CM, Forrest JB, Lee RM, et al. The dyskinetic cilia syndrome. Ciliary motility in immotile cilia syndrome. Chest, 1980, 78(4): 580-582.
7. Butterfield R. Primary ciliary dyskinesia. Pediatr Rev, 2017, 38(3): 145-146.
8. Praveen K, Davis EE, Katsanis N. Unique among ciliopathies:primary ciliary dyskinesia,a motile cilia disorder. F1000Prime Rep, 2015, 7: 36.
9. 靳雨婷, 陳星, 王金榮, 等. 中外兒童 Kartagener 綜合征的診斷特點分析. 中華兒科雜志, 2015, 53(11): 850-854.
10. 楊思林. Kartagener 綜合征. 醫師進修雜志, 1989, (4): 44-45.
11. 賈雄, 方燕燕, 劉曉紅, 等. Kartagener 綜合征的影像學診斷價值. 臨床軍醫雜志, 2014, 42(11): 1181-1182.
12. 羅朝峰, 張海勝, 張曉瑋, 等. Kartagener 綜合征的 CT 影像學特征. 中華實用診斷與治療雜志, 2016, 30(1): 94-95.
13. Mirra V, Werner C, Santamaria F. Primary ciliary dyskinesia: an update on clinical aspects, genetics, diagnosis, and future treatment strategies. Front Pediatr, 2017, 5: 135.
14. She YW, Ding L, Li P. Management of primary ciliary dyskinesia/Kartagener’s syndrome in infertile male patients and current progress in defining the underlying genetic mechanism. Asian J Androl, 2014, 16(1): 101-106.
15. 徐保平, 申昆玲, 申阿東, 等. Kartagener 綜合征 DNAI1、DNAH5 基因研究. 中國實用兒科雜志, 2008, 23(12): 934-937.
16. 張靜, 白銀, 尤少華, 等. Kartagener 綜合征合并分泌性中耳炎患者的基因診斷. 中華耳科雜志, 2014, 12(1): 41-44.
17. Kennedy MP, Noone PG, Leigh MW, et al. High-resolution CT of patients with primary ciliary dyskinesia. Am J Roentgenol, 2007, 188(5): 1232-1238.
18. 張斌, 李強, 李培. 以彌漫細支管炎為主要表現的 Kartagener 綜合征 9 例分析. 醫學影像學雜志, 2015, 25(7): 1296-1298.
19. 童皖寧, 孫星. Kartagener 綜合征合并肺炎球菌性肺炎 1 例. 臨床軍醫雜志, 2015, 43(1): 109-110.
20. Ben Saad S, Maalej S, Aouadi S, et al. Kartagener syndrome: management and prognosis. Tunis Med, 2014, 92(4): 293-295.
21. 談粉祥. Kartagener 綜合征并發肺源性心臟病 1 例. 中國臨床醫生, 2012, 40(8): 79-80.
22. Kido T, Yatera K, Yamasaki K, et al. Two cases of primary ciliary dyskinesia with different responses to macrolide treatment. Intern Med, 2012, 51(9): 1093-1098.
23. Yoshioka D, Sakamoto N, Ishimatsu Y, et al. Primary ciliary dyskinesia that responded to long-term, low-dose clarithromycin. Intern Med, 2010, 49(14): 1437-1440.
24. 楊海華, 李善群, 金先橋, 等. Kartagener 綜合征 2 例及文獻復習. 國際呼吸雜志, 2015, 35(11): 853-856.

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