肺毛细血管血管瘤病是原发性肺动脉高压的罕见病因:青少年病例报告

IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL
Mohammad Mahdavi, Hossein Shahzadi, Mohsen Ghasemnezhad, Soheila Hoseinzadeh Moghadam
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引用次数: 0

摘要

肺毛细血管血管瘤病(PCH)尽管罕见,但却给诊断带来了巨大挑战。由于它与肺静脉闭塞症等其他肺血管疾病相似,其特点是肺毛细血管异常增生,是原发性肺动脉高压的罕见病因。该病例是伊朗德黑兰 Shahid Rajaee 心脏医院于 2023 年首次报告的 PCH 病例,并通过基因检测得到证实。该病例强调了在肺动脉高压的鉴别诊断中考虑 PCH 的重要性,即使是青少年患者也不例外。这名 13 岁患者的主要主诉是进行性劳力性呼吸困难和胸痛。他既往无病史,也未服用任何药物或草药。重要的临床表现包括心脏杂音、心电图显示右心室肥大以及超声心动图显示肺动脉高压。根据肺动脉扩张和弥漫性结节性磨玻璃不透明的 CT 结果,主要诊断为 PCH。基因检测显示存在致病性 EIF2AK4 突变,怀疑是 PCH。治疗干预包括血管扩张剂治疗,但却加重了患者的病情。该病例强调了对肺动脉高压等罕见病因保持高度怀疑的重要性。结果是为患者的肺移植做好了准备。要将 PCH 与其他肺血管疾病区分开来,需要结合临床表现、放射学检查、基因分析和治疗反应来确定适当的治疗方法,尤其是肺移植。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Pulmonary Capillary Hemangiomatosis as a Rare Underlying Cause of Primary Pulmonary Hypertension: A Case Report in an Adolescent.

Despite its rarity, pulmonary capillary hemangiomatosis (PCH) presents a significant diagnostic challenge. Due to its similarity to other pulmonary vascular diseases, such as pulmonary veno-occlusive disease, it is characterized by abnormal pulmonary capillary proliferation, which is a rare cause of primary pulmonary hypertension. This case was the first reported instance of PCH in Shahid Rajaee Heart Hospital in Tehran, Iran, in 2023, which was confirmed by genetic testing. It highlighted the importance of considering PCH among the differential diagnoses for pulmonary hypertension, even in adolescent patients. The 13-year-old patient's main complaints were progressive exertional dyspnea and chest pain. He had no previous medical history and had not taken any pharmaceutical or herbal medications. Critical clinical findings included a heart murmur, an electrocardiogram revealing right ventricular hypertrophy, and echocardiogram evidence of pulmonary hypertension. The main diagnosis was PCH, as shown by CT findings of pulmonary artery dilatation and diffuse nodular ground glass opacities. Genetic tests indicated pathogenic EIF2AK4 mutations and suspicion of PCH. Therapeutic intervention included vasodilator therapy, which exacerbated the patient's condition. This case emphasized the importance of maintaining a high index of suspicion for rare causes of pulmonary hypertension, such as PCH. The outcome was to prepare the patient for lung transplantation. To differentiate PCH from other pulmonary vascular diseases, a combination of clinical presentation, radiologic studies, genetic analysis, and response to treatment is required to determine appropriate management, particularly lung transplantation.

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来源期刊
Iranian Journal of Medical Sciences
Iranian Journal of Medical Sciences MEDICINE, GENERAL & INTERNAL-
CiteScore
3.20
自引率
0.00%
发文量
84
审稿时长
12 weeks
期刊介绍: The Iranian Journal of Medical Sciences (IJMS) is an international quarterly biomedical publication, which is sponsored by Shiraz University of Medical Sciences. The IJMS intends to provide a scientific medium of com­muni­cation for researchers throughout the globe. The journal welcomes original clinical articles as well as clinically oriented basic science re­search experiences on prevalent diseases in the region and analysis of various regional problems.
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