接受肺移植的年轻人肺泡微石症:病例报告。

IF 0.9 4区 医学 Q4 PATHOLOGY
María D Mar Conde, Luis E Ramírez, Eliana I Morales, Luz F Sua, Liliana F Trujillo
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引用次数: 0

摘要

肺泡微结石症是一种罕见疾病,其特征是微结石沉积在肺泡中,是溶质运载家族 34 成员 2(SLC34A2)基因突变所致。该病通常在胸部影像学检查中偶然确诊,最常发生在患者生命的第二至第四个十年。该病的病程呈进行性发展,临床与放射学表现不一致。我们报告了一名 28 岁的西班牙裔男性患者,无相关个人或家族病史,表现为进行性劳力性呼吸困难和间歇性干咳。由于胸部 X 光检查结果异常,他被转诊至肺科进行评估。高分辨率计算机断层扫描显示,多发微钙化导致弥漫性肺不张,提示肺泡微石症,并伴有肺动脉高压的其他迹象。在整个临床过程中,他的功能分级下降,肺功能测试严重受损。他接受了移植评估,并进行了手术,据报告出现了气道狭窄等并发症,但这些并发症都得到了控制。尽管面临这些挑战,患者最终还是取得了积极进展,并保持了适当的功能分级。肺泡微石症是一种罕见疾病,临床病程慢性,表现各异。肺泡微石症是一种罕见的疾病,临床病程慢性,表现多变,病情逐渐恶化会导致慢性呼吸衰竭。在评估特征性放射学发现和进行相关鉴别诊断时,需要高度怀疑。目前还没有具体的治疗指南,肺移植是唯一有效的治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Pulmonary Alveolar Microlithiasis in a Young Man Undergoing Lung Transplantation: A Case Report.

Pulmonary alveolar microlithiasis is a rare disease characterized by the deposition of microliths in the alveoli, attributed to mutations in the solute carrier family 34 member 2 (SLC34A2) gene. Diagnosis is often incidental to chest imaging, most frequently occurring between the second and fourth decades of life. The disease follows a progressive course and manifests with a clinical-radiological dissociation. No effective treatment is known except for lung transplantation.We report on a 28-year-old Hispanic male patient with no relevant personal or family history, presenting with progressive exertional dyspnea and intermittent dry cough. He was referred for evaluation by pulmonology due to abnormal findings on chest x-ray. High-resolution computed tomography revealed diffuse lung opacities caused by multiple microcalcifications, suggesting pulmonary alveolar microlithiasis with additional signs of pulmonary hypertension. Throughout his clinical course, he experienced a decline in functional class with severe impairment in pulmonary function tests. He underwent transplant evaluation, and the procedure was performed, with reported complications including airway stenosis, which were managed. Despite these challenges, the patient eventually showed positive progress and maintained an adequate functional class.Pulmonary alveolar microlithiasis is a rare disease with a chronic clinical course and variable manifestations. Its progressive deterioration leads to chronic respiratory failure. A high index of suspicion is required when evaluating characteristic radiological findings and conducting relevant differential diagnoses. No specific treatment guidelines are available, and lung transplantation emerges as the only effective therapy, as illustrated in the described patient.

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来源期刊
CiteScore
2.10
自引率
0.00%
发文量
198
审稿时长
1 months
期刊介绍: International Journal of Surgical Pathology (IJSP) is a peer-reviewed journal published eight times a year, which offers original research and observations covering all major organ systems, timely reviews of new techniques and procedures, discussions of controversies in surgical pathology, case reports, and images in pathology. This journal is a member of the Committee on Publication Ethics (COPE).
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