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卡塔格内综合征:一例典型病例。

Kartagener's syndrome: a classical case.

作者信息

Arunabha D C, Sumit R T, Sourin B, Sabyasachi C, Subhasis M

机构信息

Department of Pulmonary Medicine, R.G. Kar Medical College and Hospital, Kolkata.

Department of Pulmonary Medicine, All India Institute of Medical Sciences, Bhubaneswar.

出版信息

Ethiop J Health Sci. 2014 Oct;24(4):363-8. doi: 10.4314/ejhs.v24i4.13.

DOI:10.4314/ejhs.v24i4.13
PMID:25489202
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4248037/
Abstract

BACKGROUND

Recurrent lower respiratory tract infection (LRTI) is a very common problem we encounter in our clinical practice. Failure to recognize the specific cause of this condition may subject the patients to unnecessary and inappropriate treatment.

CASE DETAILS

among the various causes of recurrent LRTI, the most frequent causes are abnormalities of general or local impairment of immune mechanism and abnormalities of cilia or mucus of respiratory tract. We report an adult case of recurrent upper and lower respiratory tract infections since childhood along with situs inversus totalis which was diagnosed as Kartagener's syndrome. He had all the classical clinical and radiological features of Kartagener's syndrome which is a rare inherited disorder which is seen in nearly half of the cases of primary cilliary dyskinesia (PCD).

CONCLUSION

One should always keep in mind the possibilities of Kartagener's syndrome in patients presenting with recurrent upper and lower respiratory tract infections, sinusitis or bronchiectasis. Inability to diagnose this condition may subject the patient to unnecessary and repeated hospital admissions, investigations and treatment failure.

摘要

背景

复发性下呼吸道感染(LRTI)是我们在临床实践中经常遇到的一个非常常见的问题。未能识别这种情况的具体原因可能会使患者接受不必要和不适当的治疗。

病例详情

在复发性LRTI的各种原因中,最常见的原因是免疫机制的全身或局部损害异常以及呼吸道纤毛或黏液异常。我们报告一例自童年起就患有复发性上、下呼吸道感染并伴有全内脏转位的成年病例,该病例被诊断为卡塔格内综合征。他具有卡塔格内综合征所有典型的临床和放射学特征,卡塔格内综合征是一种罕见的遗传性疾病,在原发性纤毛运动障碍(PCD)病例中近半数可见。

结论

对于出现复发性上、下呼吸道感染、鼻窦炎或支气管扩张的患者,应始终牢记卡塔格内综合征的可能性。无法诊断这种疾病可能会使患者接受不必要的反复住院、检查和治疗失败。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7c5/4248037/c83c32b2824d/EJHS2404-0363Fig5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7c5/4248037/ebe03726f8b9/EJHS2404-0363Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7c5/4248037/5286de360e53/EJHS2404-0363Fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7c5/4248037/83d26f235ae4/EJHS2404-0363Fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7c5/4248037/dc9acea42198/EJHS2404-0363Fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7c5/4248037/c83c32b2824d/EJHS2404-0363Fig5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7c5/4248037/ebe03726f8b9/EJHS2404-0363Fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7c5/4248037/5286de360e53/EJHS2404-0363Fig2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7c5/4248037/83d26f235ae4/EJHS2404-0363Fig3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7c5/4248037/dc9acea42198/EJHS2404-0363Fig4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d7c5/4248037/c83c32b2824d/EJHS2404-0363Fig5.jpg

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本文引用的文献

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An unusual presentation of Kartagener's syndrome.卡塔格内综合征的一种不寻常表现。
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Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.DNAH5基因的突变会导致原发性纤毛运动障碍以及左右不对称的随机化。
Nat Genet. 2002 Feb;30(2):143-4. doi: 10.1038/ng817. Epub 2002 Jan 14.
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Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia.患有原发性纤毛运动障碍的单卵双胞胎中器官不对称情况
Am J Med Genet. 1999 Jan 15;82(2):155-60. doi: 10.1002/(sici)1096-8628(19990115)82:2<155::aid-ajmg11>3.0.co;2-t.
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Kartagener's syndrome with motile spermatozoa.伴有活动精子的卡塔格内综合征。
N Engl J Med. 1982 Oct 28;307(18):1131-3. doi: 10.1056/NEJM198210283071807.
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Normal ciliary ultrastructure in children with Kartagener's syndrome.卡塔格内综合征患儿的正常睫状体超微结构
Ann Otol Rhinol Laryngol. 1980 Jan-Feb;89(1 Pt 1):81-3. doi: 10.1177/000348948008900120.
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Bronchiectasis and oligospermia: two families.支气管扩张症与少精子症:两个家系
Thorax. 1986 Jan;41(1):80. doi: 10.1136/thx.41.1.80.
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Kartagener's syndrome. A blinded, controlled study of cilia ultrastructure.卡塔格内综合征。纤毛超微结构的一项盲法对照研究。
Arch Otolaryngol Head Neck Surg. 1986 Jun;112(6):646-50. doi: 10.1001/archotol.1986.03780060058008.
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Bronchiectasis in the immotile-cilia syndrome.不动纤毛综合征中的支气管扩张
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