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一段始于黄甲综合征(YNS)的诊断历程以卡塔格内综合征告终:一例YNS与卡塔格内综合征并存的罕见病例报告。

A diagnostic journey started with yellow nail syndrome (YNS) ended with the Kartagener's syndrome: a rare case report of coexistence of YNS and Kartagener's syndrome.

作者信息

Khan Mishaim, Saleem Noor Ul Ain, Sajjad Waseem, Iqbal Javed

机构信息

Department of Medicine, FMH College of Medicine and Dentistry, Lahore, Pakistan.

Department of Medicine, King Edward Medical University, Lahore, Pakistan.

出版信息

Ann Med Surg (Lond). 2025 Apr 2;87(5):2970-2976. doi: 10.1097/MS9.0000000000002878. eCollection 2025 May.

Abstract

INTRODUCTION AND IMPORTANCE

Yellow nail syndrome (YNS) is a rare disorder diagnosed by a triad of yellowish-green discoloration of the nails, respiratory manifestations, and lymphedema. Kartagener's syndrome (KS) is an autosomal recessive syndrome characterized by chronic sinusitis, bronchiectasis, infertility, and situs inversus. In this case we report the rare coexistence of these solitary occurring disorders.

CASE PRESENTATION

This report details an interesting case wherein the clinical manifestation of YNS in a 54-year-old male patient not only led to its diagnosis but also revealed the coexistence of another distinctive underlying genetic disorder - KS.

CLINICAL DISCUSSION

KS is an autosomal recessive syndrome characterized by chronic sinusitis, bronchiectasis, infertility, and situs inversus. While KS and YNS are two discernibly unique syndromes, the simultaneous clinical manifestation of their pathologies within a single patient, as presented in our patient, is notably infrequent and rare.

CONCLUSION

While there is significant documented evidence of YNS co-occurring with only bronchiectasis, we present this case due to the rarity of the amalgamation of YNS with the complete spectrum of pathologies associated with KS. This may help in early diagnosis of either disorder via investigation on the basis of their coexistence as presented in this case and may result in better health outcomes in clinical practice.

摘要

引言与重要性

黄甲综合征(YNS)是一种罕见疾病,通过指甲黄绿变色、呼吸系统表现和淋巴水肿三联征进行诊断。卡塔格内综合征(KS)是一种常染色体隐性综合征,其特征为慢性鼻窦炎、支气管扩张、不孕和内脏转位。在本病例中,我们报告了这两种罕见的单独发生的疾病同时存在的情况。

病例介绍

本报告详细描述了一个有趣的病例,一名54岁男性患者的YNS临床表现不仅促成了其诊断,还揭示了另一种独特的潜在遗传疾病——KS的共存。

临床讨论

KS是一种常染色体隐性综合征,其特征为慢性鼻窦炎、支气管扩张、不孕和内脏转位。虽然KS和YNS是两种明显独特的综合征,但正如我们的患者所示,它们的病理表现同时出现在一名患者身上的情况极为罕见。

结论

虽然有大量文献记载YNS仅与支气管扩张同时出现,但我们呈现此病例是因为YNS与KS相关的完整病理谱合并的情况罕见。这可能有助于根据本病例中它们的共存情况进行调查,从而对这两种疾病进行早期诊断,并可能在临床实践中带来更好的健康结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ed53/12055193/aeb7d3f3b342/ms9-87-2970-g001.jpg

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