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卡塔格内综合征:病例系列

Kartagener's syndrome: A case series.

作者信息

Mishra Mayank, Kumar Naresh, Jaiswal Ashish, Verma Ajay K, Kant Surya

机构信息

Department of Respiratory Medicine, Chhatrapati Shivaji Subharti Hospital, Subharti Medical College, Meerut, Uttar Pradesh, India.

出版信息

Lung India. 2012 Oct;29(4):366-9. doi: 10.4103/0970-2113.102831.

Abstract

Kartagener's syndrome is a rare, autosomal recessive genetic ciliary disorder comprising the triad of situs inversus, chronic sinusitis, and bronchiectasis. The basic problem lies in the defective movement of cilia, leading to recurrent chest infections, ear/nose/throat symptoms, and infertility. We hereby report three unusual cases of this rare entity - an infertile male with azoospermia in whom Bochdalek's diaphragmatic hernia coexisted, another case of an infertile female, and a third of an infertile male with oligospermia. The need for a high index of suspicion to make an early diagnosis cannot be overemphasized in such patients so that wherever possible, options for timely treatment of infertility may be offered and unnecessary evaluation of symptoms is avoided.

摘要

卡塔格内综合征是一种罕见的常染色体隐性遗传性纤毛疾病,由内脏转位、慢性鼻窦炎和支气管扩张三联征组成。基本问题在于纤毛运动缺陷,导致反复的胸部感染、耳鼻喉症状和不孕。我们在此报告三例这种罕见疾病的特殊病例——一例患有无精子症的不育男性,同时存在博赫dalek氏膈疝;另一例是不育女性;第三例是患有少精子症的不育男性。对于这类患者,强调高度怀疑以早期诊断的必要性再怎么强调也不为过,以便尽可能提供及时治疗不孕的选择,并避免对症状进行不必要的评估。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/06c0/3519024/ee398b79bf36/LI-29-366-g001.jpg

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