卡塔格纳综合征:一系列病例回顾。

IF 2.3 Multidisciplinary Respiratory Medicine Pub Date : 2015-05-30 eCollection Date: 2015-01-01 DOI:10.1186/s40248-015-0015-2
Nicola Ciancio, Maria Margherita de Santi, Raffaele Campisi, Laura Amato, Giuseppina Di Martino, Giuseppe Di Maria
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引用次数: 9

摘要

背景:Kartagener综合征(KS)是一种罕见的常染色体隐性遗传病,其临床表现包括支气管扩张、慢性全鼻窦炎和倒位。方法:我们在此回顾自2006年以来在我们的门诊呼吸科就诊的8例这种罕见的实体。用鼻刷法获得呼吸道上皮样本,送至专门中心用电子显微镜观察。在每个标本中观察了至少50个来自不同细胞的不同纤毛的横截面,以研究轴突结构。在X 5万倍的放大倍率下拍摄电子显微镜来确定纤毛的方向,在X 11万倍的放大倍率下研究轴突模式。异常纤毛的发生率以百分数表示。结果:我们在KS患者中观察到不同的超微结构缺陷,包括外动力蛋白臂缺失,外动力蛋白臂和内动力蛋白臂缺失,中心对缺失,外周双偶体移位到中心位置。患者随访至2014年,有2例临床行为较严重的患者在随访前死亡。结论:这是一个病例系列的回顾,但我们的数据表明,具有超微结构病理分化的鼻刷可能有助于识别高风险患者和发展更复杂的临床表现。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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Kartagener's syndrome: review of a case series.

Background: Kartagener Syndrome (KS) is a rare autosomal recessive genetic disorder, resulting in a group of clinical manifestations, including bronchiectasis, chronic pansinusitis and situs inversus.

Methods: We hereby reviewed eight cases of this rare entity selected from patients attending our outpatients Respiratory Unit since 2006. Samples of respiratory epithelium were obtained with the method of nasal brushing and sent to a specialized center in order to be studied with electron microscopy. At least 50 cross sections of different cilia from different cells were observed in each specimen to study the axonemal structure. Electron micrographs were taken at a magnification of X 50,000 to determine the orientation of the cilia and at a magnification of X 110,000 to study the axonemal pattern. The incidence of abnormal cilia was expressed as a percentage.

Results: We observed different ultrastructural defects in our KS patients, including absence of outer dynein arms, absence of outer and inner dynein arms, and absence of the central pair with transposition of a peripheral doublet into the central position. Patient's follow up lasted till 2014, however two patients with more severe clinical behavior died before.

Conclusions: This is a review of a case series, yet our data has shown that nasal brushing with ultrastructural pathological differentiation may be useful to identify patients with high risk and to develop more complex clinical presentations.

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来源期刊
Multidisciplinary Respiratory Medicine
Multidisciplinary Respiratory Medicine Medicine-Pulmonary and Respiratory Medicine
自引率
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发文量
23
期刊介绍: Multidisciplinary Respiratory Medicine is the official journal of the Italian Respiratory Society - Società Italiana di Pneumologia (IRS/SIP). The journal publishes on all aspects of respiratory medicine and related fields, with a particular focus on interdisciplinary and translational research. The interdisciplinary nature of the journal provides a unique opportunity for researchers, clinicians and healthcare professionals across specialties to collaborate and exchange information. The journal provides a high visibility platform for the publication and dissemination of top quality original scientific articles, reviews and important position papers documenting clinical and experimental advances.
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