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一个家族中四名成员的家族性间质性肺疾病:病例系列

Familial interstitial lung disease in four members of one family: a case series.

作者信息

Alhamad Esam H

机构信息

Department of Medicine, Division of Pulmonary Medicine, King Khalid University Hospital, King Saud University, Riyadh, 11415, Saudi Arabia.

出版信息

Cases J. 2009 Dec 19;2:9356. doi: 10.1186/1757-1626-2-9356.

Abstract

INTRODUCTION

Familial interstitial lung disease has been reported worldwide, mostly in Europe and North America; limited information is available on the disease among Arab patients.

CASE PRESENTATION

A 45-year-old woman presented to our outpatient clinic with a 1-year history of progressive dyspnea. At the age of 37 years, based on clinical and radiological features, our patient was diagnosed with idiopathic pulmonary fibrosis. A family history showed that of five deceased siblings, four had died of disease of undetermined etiology. In addition, we screened other family members, and three were shown to have clinical, radiological, and pathological features consistent with interstitial pneumonia.

CONCLUSION

Our report illustrates that younger age at presentation appears to be a common feature in patients with familial interstitial pneumonia. Otherwise, clinical, radiological, and histological features are indistinguishable from those of sporadic cases. Furthermore, our work highlights the importance of compiling a thorough family history in individuals presenting with cough and dyspnea, particularly in younger patients identified with idiopathic pulmonary fibrosis.

摘要

引言

家族性间质性肺病在全球范围内均有报道,主要集中在欧洲和北美;关于阿拉伯患者中该疾病的信息有限。

病例介绍

一名45岁女性因进行性呼吸困难1年就诊于我们的门诊。37岁时,根据临床和影像学特征,该患者被诊断为特发性肺纤维化。家族史显示,其五名已故兄弟姐妹中,有四人死于病因不明的疾病。此外,我们对其他家庭成员进行了筛查,发现三人具有与间质性肺炎一致的临床、影像学和病理特征。

结论

我们的报告表明,发病年龄较轻似乎是家族性间质性肺炎患者的一个常见特征。否则,其临床、影像学和组织学特征与散发病例并无区别。此外,我们的工作强调了为咳嗽和呼吸困难患者,尤其是被诊断为特发性肺纤维化的年轻患者,详细记录家族史的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2641/2804728/225b76d5a39c/1757-1626-2-9356-7.jpg

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