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肺泡微石症:临床症状轻微但影像学表现严重——病例报告

Alveolar Microlithiasis with Mild Clinical Symptoms But Severe Imaging Findings: A Case Report.

作者信息

Hoseininia Saeed, Salimi Maryam, Salmani Asma, Jannati Rona, Negaresh Mohammad

机构信息

Department of Internal Medicine (Pulmonary Division), School of Medicine, Ardabil University of Medical Sciences, Ardabil, Iran.

Department of Internal Medicine, School of Medicine, Ardabil University of Medical Sciences, Ardabil, Iran.

出版信息

Clin Med Insights Case Rep. 2024 Mar 5;17:11795476241236350. doi: 10.1177/11795476241236350. eCollection 2024.

DOI:10.1177/11795476241236350
PMID:38450045
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10916495/
Abstract

Pulmonary alveolar microlithiasis (PAM) is a rare genetic disorder that causes calcium phosphate microliths to form in the alveoli. Symptoms usually appear in a person's third or fourth decade of life. A definitive diagnosis does not always demand a lung biopsy but can be achieved in families with more than one member with PAM and compatible chest imaging. We present the case of a 47-year-old woman referred to us for shortness of breath. Chest imaging revealed bilateral diffuse ground-glass opacities, interlobar fissure calcification, and subpleural linear calcifications, leading to a diagnosis of PAM. Although there is no specific treatment for this condition, early diagnosis can help prevent it from progressing rapidly by avoiding exposure to risk factors.

摘要

肺泡微石症(PAM)是一种罕见的遗传性疾病,可导致磷酸钙微结石在肺泡内形成。症状通常在一个人30多岁或40多岁时出现。明确诊断并不总是需要进行肺活检,但在有不止一名成员患有PAM且胸部影像学表现相符的家庭中可以实现。我们报告一例47岁女性因呼吸急促转诊至我院的病例。胸部影像学显示双侧弥漫性磨玻璃影、叶间裂钙化和胸膜下线状钙化,从而诊断为PAM。虽然这种疾病没有特效治疗方法,但早期诊断有助于通过避免接触危险因素来防止其迅速进展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182a/10916495/5b6d477858af/10.1177_11795476241236350-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182a/10916495/5b6d477858af/10.1177_11795476241236350-fig1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182a/10916495/5b6d477858af/10.1177_11795476241236350-fig1.jpg

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Time from presentation to pre-diagnostic chest X-ray in patients with symptomatic lung cancer: a cohort study using electronic patient records from English primary care.有症状肺癌患者从就诊到胸部 X 光检查的时间:一项使用英国初级保健电子患者记录的队列研究。
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Eight novel variants in the gene in pulmonary alveolar microlithiasis.肺泡微石症相关基因中的八个新变异体。
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Pulmonary alveolar microlithiasis diagnosed with radiography, CT, and bone scintigraphy.通过X线摄影、CT和骨闪烁显像诊断的肺泡微石症。
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