Kartagener综合征1例报道并文献复习

目的探讨Kartagener综合征（Kartagener Syndrome,KS）的临床特点、诊断和治疗方法。方法报道1例KS病例,结合文献进行回顾性分析。结果患者女性,16岁,自幼易反复患呼吸道感染,CT示支气管扩张并感染、全内脏转位,经对症治疗后症状好转。KS是一种常染色体遗传性疾病,临床上以咳嗽、咳痰、流脓涕等症状最为常见,CT常提示支气管扩张、内脏转位、鼻窦炎。对症治疗为主要治疗方法。结论 KS是一种少见疾病,临床上极易误诊为＂支气管扩张、鼻窦炎＂,完全型KS的临床诊断主要依据＂支气管扩张、内脏转位、鼻窦炎＂三联征。如果能做到早期诊断、早期治疗并预防感染等并发症,预后一般良好。     

Kartagener’s综合征9例及文献复习

目的提高对Kartagener’s综合征的认识。方法总结9例Kartagener’s综合征的临床资料，分析其临床、实验室及影像学特点，并结合文献复习。结果Kartagener’s综合征是一种少见的常染色体隐性遗传疾病，有家族倾向，其特征性表现为内脏转位一支扩及副鼻窦炎三联征。临床主要表现为反复咳嗽、咳痰、鼻塞、流涕，可伴嗅觉减退乃至丧失、听力异常、不育等，少数合并其他先天性畸形。目前认为Kartagener’s综合征是原发性纤毛运动障碍的一种亚型。治疗原则为积极预防和控制感染，一般预后良好。结论Kartagener’s综合征临床少见，在内脏反位患者中出现频发的呼吸道感染，结合CT特征性表现及家族史等有助于早期诊断，积极控制感染。     

Kartagener综合征1例诊断分析

Kartagener综合征（原发性纤毛运动障碍的一种临床变种）是以慢性副鼻窦炎、支气管扩张和内脏转位三联征为特征的隐性常染色体疾病。     

卡塔格内综合征1例并文献复习

卡塔格内综合征是是一种常染色体隐性遗传病,临床常见右位心或全内脏转位、支气管扩张症、副鼻窦炎三联征。患者多于幼年发病,并常因反复呼吸道感染而就诊,本文介绍一例卡塔格内综合征患者,并对近年来国内外关于本病研究的文献进行阅读和总结。     

副鼻窦炎-支气管扩张-内脏转位综合征二例报道

目的提高对Kartagener's综合征的认识和早期诊断率.方法对二例经临床、实验室和影像学等检查证实的患者进行分析并结合文献复习.结果Kartagener's综合征是一种少见的常染色体隐性遗传性疾病,典型的临床表现为支气管扩张、内脏异常转位、副鼻窦炎三联征,临床上最常见的表现为早期、反复肺部感染,可逐步加重,同时伴有副鼻窦炎、听力障碍、不育等异常.目前认为纤毛无运动综合征是由纤毛结构缺陷引起的多发性异常的常染色体隐性遗传性疾病,影响范围更广,Kartagener's综合征是其一个亚型.结论在早期发生的不明原因的双肺弥漫性支气管扩张症的鉴别诊断中应想到Kartagener's综合征的可能,并进一步行全身其它系统检查及家族史研究以早期诊断该病.     

不动纤毛综合征合并耳聋及早期精神分裂症一例报道

不动纤毛综合征(immobile cilia syndrome,ICS)是以纤毛运动障碍为主要表现的一类疾病。1933年,Kartagener报道了4例合并鼻窦炎、支气管扩张、右位心的病例,从而称为Kartagener综合征。Kartagener综合征的发病率约为1/40000~50000,占全内脏转位的6%~9%,占支气管扩张的0.5%[1]。     

副鼻窦炎-支气管扩张-内脏转位综合征二例报道

目的 提高对Kartagener’s综合征的认识和早期诊断率。方法 对二例经临床、实验室和影像学等检查证实的患者进行分析并结合文献复习。结果 Kartagener’s综合征是一种少见的常染色体隐性遗传性疾病，典型的临床表现为支气管扩张、内脏异常转位、副鼻窦炎三联征，临床上最常见的表现为早期、反复肺部感染，可逐步加重，同时伴有副鼻窦炎、听力障碍、不育等异常。目前认为纤毛无运动综合征是由纤毛结构缺陷引起的多发性异常的常染色体隐性遗传性疾病，影响范围更广，Kartagener’s综合征是其一个亚型。结论 在早期发生的不明原因的双肺弥漫性支气管扩张症的鉴别诊断中应想到Kartagener’s综合征的可能，并进一步行全身其它系统检查及家族史研究以早期诊断该病。     

CT诊断Kartagener’s综合征1例

Kartagener’s综合征(Kartagener syndrome,KGS)又称鼻窦炎-支气管扩张-内脏转位综合征,属于常染色体隐性遗传病原发性纤毛运动障碍(pimary ciliary dyskinesia,PCD)的一种最严重的亚型。临床少见,在全内脏反位(0.12‰)患者中占6%～9%,在支气管扩张症(4‰)患者中约占0.5%[1]。我们收治1例,报告如下。1临床资料患者,女性,10岁,2010年3月28日因"反复咳嗽、咳痰5年,咯血1 d"到泸州医学院附属医院就诊。查体:一般情况可,     

Kartagener综合征1例报告

目的 分析原发性纤毛运动障碍(primary ciliary dyskinesia,PCD)的特殊类型Kartagener综合征的临床特点及实验室检查结果.结合文献总结PCD的诊断方法研究进展.方法 回顾分析解放军总医院第八医学中心呼吸与危重症医学部收治的1例Kartagener综合征女性患者的临床资料.结果 40岁女性患者,反复咳嗽咳痰16年,活动后憋喘5年.鼻窦CT提示多组副鼻窦炎,慢性鼻炎;肺CT提示内脏转位,双肺多发囊状支气管扩张.透射电镜下可见纤毛部分外动力臂缺失及复合纤毛.全外显子基因检测提示DNAH5单基因杂合突变.检索文献及数据库发现在PCD患者基因检测中有少数患者存在单基因杂合突变.结论 Kartagener综合征临床罕见,典型临床表现结合透射电镜检测可以协助明确诊断,全外显子基因检测有助于PCD的早期诊断.     

Kartagener。S综合征完全型1例并文献复习

Kartagener’s综合征（kartagener’s syndrome,KS）由支气管扩张、慢性鼻窦炎或鼻息肉、内脏反位三联征组成。主要表现为反复发生呼吸道化脓性感染、咯血为特征的支气管扩张症状及副鼻窦炎和右位心。笔者结合1例近期诊治患者并文献复习,现报告如下。     

Fertility, immotile cilia and chronic respiratory infections.

Kartagener's syndrome (occurrence of bronchitis and sinusitis in patients with transposed viscera or situs inversas) increases susceptibility to purulent infections of the upper and lower respiratory tract, leading to long-term damage to the respiratory tract. Arge reported that male sterility is a component of Kartagener's syndrome. Application of electron microscopy (EM) techniques to the study of the sperm of infertile men showed the presence of immotile spermatozoa with abnormal anoxemal structures. Afzelius, in examining respiratory tracts, reported tracheobronchial clearance with no mucociliary transport; absence of ciliary motion in biopsy material; and, similarity in EM appearance of ciliary anoxemes and sperm. Most of the subjects studied had Kartagener's syndrome; others had immotile sperm and chronic respiratory infection but not situs inversus. Other studies had similar observations; Eliasson et al. introduced the term "immotile ciliasyndrome." Sturgess et al. reported the presence of a completely differenct ciliary anoxemal defect in both respiratory tract and spermatozoa of 3 siblings with chronic respiratory tract disease but not Kartagener's syndrome. The defect in Kartagener's syndrome is the absence of dynein arms (believed to be responsible for the generation of ciliary movements and radial spokes which allow the cilia to bend) while the defect in Sturgess cases is lack of radial spokes. Whatever the mechanism, the movement of the cilia is restricted. In respiratory tracts, this defect leads to loss of ciliary cleansing action with chronic infective sequelae as in Kartagener's syndrome. It is not known whether the ciliated cells of the fallopian tubes can result in female sterility, nor if ciliary immotility in the brain ventricles and central canal of the spinal end (these areas are lined with ciliated cells) has been associated with any disorder. The sensory hairs of olfactory and vestibular cells also have dynein arms capable of some motility. Further research along these lines should be encouraged.     

Kartagener综合征呼吸道症状2例诊治分析

目的探讨Kartagener综合征呼吸道症状的有效治疗措施及日常管理。方法回顾性分析2例Kartagener综合征患者临床资料并结合文献复习,分析Kartagener综合征呼吸道症状的病因、诊断和治疗方法。结果Kartagener综合征患者因基因突变致纤毛结构和功能异常,从而出现慢性鼻窦炎、支气管扩张、内脏反位三联征,针对其呼吸道症状的有效治疗可能减轻支气管、肺疾病的发展。结论Kartagener综合征的呼吸道症状应予以终生治疗,及早确诊并选择最合适的治疗方式,有益于疾病的转归。     

上呼吸道感染患者抗生素治疗前后中医证型变化关系*

[目的]观察上呼吸道感染患者抗生素治疗前后中医证型的变化。[方法]观察86例上呼吸道感染患者抗生素治疗前和治疗后第3天、第6天的舌象及症状变化情况,记录症状及评分。每6天为1个疗程。对新增症状进行统计学聚类分析处理,确定相关的中医证型。用图像软件处理数字舌图,探讨其与中医证型的相关性。[结果]上呼吸道感染患者抗生素治疗前中医证型分布为:风寒证28例,风热证27例,风寒挟湿证12例,风热挟湿证19例;治疗后第3天中医证型分布为:风寒证2例,风热证3例,风寒挟湿证36例,风热挟湿证45例;治疗后第6天中医证型分布为:风寒证2例,风热证1例,风寒挟湿证27例,风热挟湿证56例。聚类分析为湿热蕴脾证和寒湿困脾证2型。治疗后第6天寒湿困脾证与湿热蕴脾证的相同证型评分均和第3天的证型评分有统计学意义(P<0.05)。寒湿困脾证患者舌苔的R、G、B值均低于湿热蕴脾证。[结论]上呼吸道感染患者使用抗生素治疗后多转变为湿热蕴脾证和寒湿困脾证,提示用相应的中医药搭配抗生素使用。     

Renal dysplasia and situs inversus totalis: an autopsy case report and literature review

Renal dysplasia has rarely been reported to be associated with situs inversus. Only 4 cases were reported previously with a spectrum of anomalies including bilateral renal dysplasia, situs inversus totalis, and pancreatic and hepatic fibrosis. Recently we encountered another case. A 22-year-old mother, gravida 1 para 0, was in her 23rd week of gestation when she was found to have oligohydramnios. A dead baby was delivered by extraovular induction. On autopsy, Potter's sequences including flattened, low-set ears, receding chin, upturned nose, and club hands and feet were noted. The posterior fontanel was obliterated. Internal examination showed situs inversus totalis, bilateral renal dysplasia, and agenesis of bilateral ureters. There was increased interstitial fibrosis in the pancreas. None of the family members was known to have any renal anomalies. Pinar and Rogers suggested a new syndrome when situs inversus totalis was combined with bilateral renal dysplasia as well as multisystem fibrosis. In our case, 2 major abnormalities, i.e., situs inversus totalis and bilateral renal dysplasia, were present though the increase of interstitial fibrosis within the pancreas was not as significant. This case is likely to be within the spectrum of anomalies mentioned by Pinar and Rogers.     

Case report: dextrocardia with situs inversus; two cases presenting differently

Two patients presented to our centre with dextrocardia and complete situs inversus. The first a 35-year-old presented for the first time with respiratory symptoms but no cardiac symptoms and the second patient (14-year-old) presented with cardiac symptoms. Dextrocardia and situs inversus were confirmed by the chest radiograph, electrocardiograph, and abdominal ultrasound and computerised axial tomography in the two patients. Echocardiography established atrio-ventricular great arteries ventricular concordance and bicuspid aortic valve in the second patient that presented with cardiac symptoms.     

春季急性上呼吸道感染中医证型与sIgA相关性初步研究

目的:分析春季急性上呼吸道感染中医证型与呼吸道局部免疫分子SIgA之间的相关性。方法:选取时令病邪致病较典型的春季急性上呼吸道感染患者63例为研究对象,其中风寒型32例,风热型31例,并与30例健康人作对照,检测口咽部免疫分子SIgA状况。结果:疾病组SIgA含量较正常组显著降低(P<0.05),风热组患者SIgA含量较正常组显著降低(P<0.01),风寒组与正常组比较无显著差异。结论:春季急性上呼吸道感染患者中医证型与局部免疫分子SIgA之间存在一定相关性。     

Transmission electron microscopy in the diagnosis of primary ciliary dyskinesia

Primary ciliary dyskinesia (PCD) is an autosomal recessive disease with extensive genetic heterogeneity. Dyskinetic or completely absent motility of cilia predisposes to recurrent pulmonary and upper respiratory tract infections resulting in bronchiectasis. Also infections of the middle ear are common due to lack of ciliary movement in the Eustachian tube. Men have reduced fertility due to spermatozoa with absent motility or abnormalities in the ductuli efferentes. Female subfertility and tendency to ectopic pregnancy has also been suggested. Headache, a common complaint in PCD patients, has been associated with absence of cilia in the brain ventricles, leading to decreased circulation of the cerebrospinal fluid. Finally, half of the patients with PCD has situs inversus, probably due to the absence of ciliary motility in Hensen's node in the embryo, which is responsible for the unidirectional flow of fluid on the back of the embryo, which determines sidedness. PCD, which is an inborn disease, should be distinguished from secondary ciliary dyskinesia (SCD) which is an acquired disease. Transmission electron microscopy is the most commonly used method for diagnosis of PCD, even though alternative methods, such as determination of ciliary motility and measurement of exhaled nitric oxide (NO) may be considered. The best method to distinguish PCD from SCD is the determination of the number of inner and outer dynein arms, which can be carried out reliably on a limited number of ciliary cross-sections. There is also a significant difference in the ciliary orientation (determined by the direction of a line drawn through the central microtubule pair) between PCD and SCD, but there is some overlap in the values, making this parameter less suitable to distinguish PCD from SCD.     

Transmission Electron Microscopy in the Diagnosis of Primary Ciliary Dyskinesia

Primary ciliary dyskinesia (PCD) is an autosomal recessive disease with extensivegenetic heterogeneity. Dyskinetic or completely absent motility of cilia predisposesto recurrent pulmonary and upper respiratory tract infections resulting in bronchiec-tasis. Also infections of the middle ear are common due to lack of ciliary movementin the Eustachian tube. Men have reduced fertility due to spermatozoa with absentmotility or abnormalities in the ductuli efferentes. Female subfertility and tendencyto ectopic pregnancy has also been suggested. Headache, a common complaint inPCD patients, has been associated with absence of cilia in the brain ventricles, lead-ing to decreased circulation of the cerebrospinal fluid.

Finally, half of the patients with PCD has situs inversus, probably due to the absence of ciliary motility inHensen's node in the embryo, which is responsible for the unidirectional flow offluid on the back of the embryo, which determines sidedness. PCD, which is aninborn disease, should be distinguished from secondary ciliary dyskinesia (SCD)which is an acquired disease. Transmission electron microscopy is the most com-monly used method for diagnosis of PCD, even though alternative methods, such asdetermination of ciliary motility and measurement of exhaled nitric oxide (NO) maybe considered.

The best method to distinguish PCD from SCD is the determination of the number of inner and outer dynein arms, which can be carried out reliably on alimited number of ciliary cross-sections. There is also a significant difference in theciliary orientation (determined by the direction of a line drawn through the centralmicrotubule pair) between PCD and SCD, but there is some overlap in the values, making this parameter less suitable to distinguish PCD from SCD.     

急性上呼吸道感染中医证型与口咽部微生态平衡相关性初步研究

目的 :初步探讨急性上呼吸道感染中医证型与口咽部微生态平衡相关性。方法 :选择急性上呼吸道感染患者 6 7例 ,其中风寒型 31例 ,风热型 36例 ,并与 30例健康者对照。对咽部菌群进行定性定量测定。结果 :急性上呼吸道感染患者口咽部菌群密集度增高 ,菌群多样性降低 ,优势菌发生变化。风寒型患者需氧菌中腐生葡萄球菌密集度增高。结论 :急性上呼吸道感染患者咽部微生态失衡是其发生疾病的主要原因之一 ,是中医正气不足 ,卫外不固的一个方面。     

中成药辨证治疗小儿合胞病毒急性上感临床研究

目的：对小儿急性上呼吸道感染合胞病毒感染状况及中成药辨证方案治疗进行研究。方法：收集2009年4月—2011年1月济南、沈阳、南京地区急性上呼吸道感染患儿,辨证分型后随机分成两组,对照组使用利巴韦林抗病毒常规治疗,治疗组应用上市中成药辨证治疗方案治疗,3 d 1个疗程,检测合胞病毒并观察上市中成药辨证治疗效果及相关因素。结果：收集1090例病例,合胞病毒感染率为12.56%,学龄前儿童易感,秋季感染居多,南京和济南较沈阳合胞病毒感染率高,合胞病毒阳性者表寒里热证多见。结论：合胞病毒感染为小儿急性上感的常见病毒,其感染率与季节、地域、年龄相关,与中医辨证有相关性,中成药辨证治疗优势显著。