Kartagener综合征41例诊治研究
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摘要
目的:总结Kartagener综合征的临床特点、诊断及治疗方法,以提高对该病的认识,减少误诊、误治。方法:回顾性分析Kartagener综合征患者41例的临床资料、影像学特征、治疗情况及随访数据。结果:41例患者中,男21例,女20例,年龄17～59岁,平均发病年龄(13.9±6.5)岁,平均诊断年龄(42.7±12.5)岁;咳嗽、咳痰、胸闷、咯血、发热为其主要临床症状。41例患者均有慢性鼻窦炎病史,胸部CT可见以双肺下叶、右中叶或左肺舌段为主的不同程度的支气管扩张。患者的痰液以及肺泡灌洗液病原学中铜绿假单胞菌最常见。29例患者完成肺功能检查,其中阻塞性肺通气功能障碍最常见。24例患者行支气管镜检查,镜下见支气管黏膜充血肿胀,腔内大量分泌物。预防感染、及时控制感染是治疗Kartagener综合征的关键,长期小剂量大环内酯类药物有利于减少该病的急性发作。结论:Kartagener综合征是一种罕见疾病。幼年起病、反复下呼吸道感染,合并慢性鼻窦炎、内脏反位的支气管扩张症患者需考虑该病。预防和及时控制感染可改善预后。
Objective:To review the clinical data of cases of Kartagener syndrome,and to explore the clinical characteristics for the understanding of Kartagener syndrome. Methods :We retrospectively summarized 41 patients with Kartagener syndrome. The following data were obtained from the medical records: symptoms and signs,imaging data,treatment and follow-up.Results: There were 21 male and 20 female patients,with the age from 17 to 59 years old at the time of diagnosis. The mean onset age of the disease was(13.9±6.5) years,and the mean age at the diagnosis was(42.7±12.5) years. The most common symptoms were cough,expectoration,chest tightness,hemoptysis and fever. All of 41 cases had chronic nasal sinusitis. In our group,Chest CT showed bronchiectasis with different degrees,mainly in the lower lobe,right middle lobe or left lingual segment.Pseudomonas aeruginosawas the most common pathogen in the sputum and bronchoalveolar lavage fluid of patients. 29 cases underwent spirometry and obstructive pattern was the most common disorder(19/29). 24 cases underwent bronchoscopy,A large amount of purulent secretion in the bronchial and the swollen bronchial mucosa was found. Prevention of infection and timely control of infection was the key to the treatment of Kartagener syndrome,and long-term small doses of macrolides could help reduce the acute onset of the disease.Conclusion:Kartagener syndrome is a rare disease. Kartagener syndrome should be considered in bronchiectasis patients with disease onset at childhood,especially those who had the history of repeated lower respiratory tract infections,accompanied with chronic nasal sinusitis and visceral inversion. Prevention and timely control of infection can improve the prognosis of Kartagener syndrome.
Objective:To review the clinical data of cases of Kartagener syndrome,and to explore the clinical characteristics for the understanding of Kartagener syndrome. Methods :We retrospectively summarized 41 patients with Kartagener syndrome. The following data were obtained from the medical records: symptoms and signs,imaging data,treatment and follow-up.Results: There were 21 male and 20 female patients,with the age from 17 to 59 years old at the time of diagnosis. The mean onset age of the disease was(13.9±6.5) years,and the mean age at the diagnosis was(42.7±12.5) years. The most common symptoms were cough,expectoration,chest tightness,hemoptysis and fever. All of 41 cases had chronic nasal sinusitis. In our group,Chest CT showed bronchiectasis with different degrees,mainly in the lower lobe,right middle lobe or left lingual segment.Pseudomonas aeruginosawas the most common pathogen in the sputum and bronchoalveolar lavage fluid of patients. 29 cases underwent spirometry and obstructive pattern was the most common disorder(19/29). 24 cases underwent bronchoscopy,A large amount of purulent secretion in the bronchial and the swollen bronchial mucosa was found. Prevention of infection and timely control of infection was the key to the treatment of Kartagener syndrome,and long-term small doses of macrolides could help reduce the acute onset of the disease.Conclusion:Kartagener syndrome is a rare disease. Kartagener syndrome should be considered in bronchiectasis patients with disease onset at childhood,especially those who had the history of repeated lower respiratory tract infections,accompanied with chronic nasal sinusitis and visceral inversion. Prevention and timely control of infection can improve the prognosis of Kartagener syndrome.
引文
[1] Lu SJ,Loo SW.Kartagener syndrome[J].Intern Emerg Med ,2015,10(10):639-640.
[2] 中华医学会儿科学会呼吸学组疑难少见病协作组,国际呼吸系统临床医学研究中心,《中华实用儿科临床杂志》编辑委员会.儿童原发性纤毛运动障碍诊断与治疗专家共识[J].中华实用儿科临床杂志,2018,33(2):94-99.
[3] Berdon WE,Willi U.Situs inversus,bronchiectasis,and sinusitis and its relation to immotile cilia:history of the diseases and their discoverers manes kartagener and bjorn afzelius[J].Pediatr Radiol ,2004,34(1):38-42.
[4] Sha 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[J].Asian J Androl,2014,16(1):101-106.
[5] 田欣伦,王世波,郑姝颖,等.原发性纤毛运动障碍17例临床特点分析[J].中华结核和呼吸杂志,2017,40(4):278-283.
[6] 中华医学会呼吸病学分会肺功能专业组.肺功能检查(第一部分):概述及一般要求[J].中华结核和呼吸杂志,2014,37(6):402-405.
[7] Leigh MW,Pittman JE,Carson JL,et al.Clinical and genetic aspects of primary ciliary dyskinesia/ kartagener syndrome[J].Genet Med,2009,11(7):473-487.
[8] Lucas JS,Barbato A,Collins SA,et al.European respiratory society guidelines for the diagnosis of primary ciliary dyskinesia[J].Eur Respir J,2017,49(1):1601-1609.
[9] Failly M,Bartoloni L,Letourneau A,et al.Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia[J].J Med Genet,2009,46(4):281-286.
[10] Jana D,Tamara S,Karel H,et al.Effectiveness ofsequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia[J].Pediatr Pulmonol,2012,47(9):864-875.
[11] Escudier E,Duquesnoy P,Papon JF,et al.Ciliary defects and genetics of primary ciliary dyskinesia[J].Paediatr Respir Rev,2009,10(2):51-54.
[12] Geremek M,Schoenmaker F,Zietkiewicz E,et al.Sequence analysis of 21 genes located in thekartagener syndrome linkage region on chromosome 15q[J].Eur J Hum Genet,2008,16(6):688-695.
[13] Horani A,Ferkol TW,Dutcher SK,et al.Genetics and biology of primary ciliary dyskinesia[J].Paediatr Respir Rev,2016;18:18-24.
[14] Barbato A,Frischer T,Kuehni CE,et al.Primary ciliary dyskinesia:a consensus statement on diagnostic and treatment approaches in children[J].Eur Respir J,2009,34(6):1264-1276.
[15] Tanaka K,Sutani A,Uchida Y,et al.Ciliary ultrastructure in two sisters with Kartagener's syndrome[J].Med Mol Morphol,2007,40(1):34-39.
[16] Lobo J,Zariwala MA,Noone PG.Primary ciliary dyskinesia[J].Semin Respir Crit Care Med,2015,36(2):169-179.
[2] 中华医学会儿科学会呼吸学组疑难少见病协作组,国际呼吸系统临床医学研究中心,《中华实用儿科临床杂志》编辑委员会.儿童原发性纤毛运动障碍诊断与治疗专家共识[J].中华实用儿科临床杂志,2018,33(2):94-99.
[3] Berdon WE,Willi U.Situs inversus,bronchiectasis,and sinusitis and its relation to immotile cilia:history of the diseases and their discoverers manes kartagener and bjorn afzelius[J].Pediatr Radiol ,2004,34(1):38-42.
[4] Sha 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[J].Asian J Androl,2014,16(1):101-106.
[5] 田欣伦,王世波,郑姝颖,等.原发性纤毛运动障碍17例临床特点分析[J].中华结核和呼吸杂志,2017,40(4):278-283.
[6] 中华医学会呼吸病学分会肺功能专业组.肺功能检查(第一部分):概述及一般要求[J].中华结核和呼吸杂志,2014,37(6):402-405.
[7] Leigh MW,Pittman JE,Carson JL,et al.Clinical and genetic aspects of primary ciliary dyskinesia/ kartagener syndrome[J].Genet Med,2009,11(7):473-487.
[8] Lucas JS,Barbato A,Collins SA,et al.European respiratory society guidelines for the diagnosis of primary ciliary dyskinesia[J].Eur Respir J,2017,49(1):1601-1609.
[9] Failly M,Bartoloni L,Letourneau A,et al.Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia[J].J Med Genet,2009,46(4):281-286.
[10] Jana D,Tamara S,Karel H,et al.Effectiveness ofsequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia[J].Pediatr Pulmonol,2012,47(9):864-875.
[11] Escudier E,Duquesnoy P,Papon JF,et al.Ciliary defects and genetics of primary ciliary dyskinesia[J].Paediatr Respir Rev,2009,10(2):51-54.
[12] Geremek M,Schoenmaker F,Zietkiewicz E,et al.Sequence analysis of 21 genes located in thekartagener syndrome linkage region on chromosome 15q[J].Eur J Hum Genet,2008,16(6):688-695.
[13] Horani A,Ferkol TW,Dutcher SK,et al.Genetics and biology of primary ciliary dyskinesia[J].Paediatr Respir Rev,2016;18:18-24.
[14] Barbato A,Frischer T,Kuehni CE,et al.Primary ciliary dyskinesia:a consensus statement on diagnostic and treatment approaches in children[J].Eur Respir J,2009,34(6):1264-1276.
[15] Tanaka K,Sutani A,Uchida Y,et al.Ciliary ultrastructure in two sisters with Kartagener's syndrome[J].Med Mol Morphol,2007,40(1):34-39.
[16] Lobo J,Zariwala MA,Noone PG.Primary ciliary dyskinesia[J].Semin Respir Crit Care Med,2015,36(2):169-179.