遗传性肺泡蛋白沉积症在5岁儿童:诊断见解和治疗方法

Q4 Medicine
Dhiran Sivasubramanian MBBS , Karthick Balasubramanian MBBS , Sathwik Sanil MBBS , Smrti Aravind MBBS , Virushnee Senthilkumar MBBS
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引用次数: 0

摘要

遗传性肺泡蛋白沉积症(hPAP)是一种罕见的疾病,由CSF2RA或CSF2RB基因突变引起,导致肺泡巨噬细胞对表面活性剂的清除受损,进而导致呼吸功能障碍。我们对一名5岁女性进行了评估,她有2年的体重增加不佳、疲劳和间歇性发热的病史。临床评估显示低氧血症,胸部高分辨率计算机断层扫描(HRCT)显示特征性的“疯狂铺路”模式,提示PAP。支气管肺泡灌洗(BAL)产生带有周期性酸希夫(PAS)阳性物质的乳白色液体,基因检测证实CSF2RA基因纯合突变,与hPAP一致。患者接受治疗性全肺灌洗(WLL),临床明显改善。本病例强调了诊断儿科hPAP的挑战以及整合影像学、病理学和基因检测的价值。虽然WLL仍然是治疗的主要方法,但需要进一步研究开发靶向治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Hereditary pulmonary alveolar proteinosis in a 5-year-old child: Diagnostic insights and therapeutic approach
Hereditary pulmonary alveolar proteinosis (hPAP) is a rare disorder caused by mutations in the CSF2RA or CSF2RB genes, leading to impaired surfactant clearance by alveolar macrophages and subsequent respiratory dysfunction. A 5-year-old female with a 2-year history of poor weight gain, fatigue, and intermittent fever was evaluated. Clinical evaluation revealed hypoxemia, while high-resolution computed tomography (HRCT) of the chest showed the characteristic “crazy-paving” pattern suggestive of PAP. Bronchoalveolar lavage (BAL) yielded milky fluid with periodic acid-Schiff (PAS)-positive material, and genetic testing confirmed a homozygous mutation in the CSF2RA gene, consistent with hPAP. The patient underwent therapeutic whole lung lavage (WLL), resulting in significant clinical improvement. This case underscores the challenges of diagnosing pediatric hPAP and the value of integrating imaging, pathology, and genetic testing. While WLL remains the mainstay of treatment, further research is needed to develop targeted therapies.
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来源期刊
Radiology Case Reports
Radiology Case Reports Medicine-Radiology, Nuclear Medicine and Imaging
CiteScore
1.10
自引率
0.00%
发文量
1074
审稿时长
30 days
期刊介绍: The content of this journal is exclusively case reports that feature diagnostic imaging. Categories in which case reports can be placed include the musculoskeletal system, spine, central nervous system, head and neck, cardiovascular, chest, gastrointestinal, genitourinary, multisystem, pediatric, emergency, women''s imaging, oncologic, normal variants, medical devices, foreign bodies, interventional radiology, nuclear medicine, molecular imaging, ultrasonography, imaging artifacts, forensic, anthropological, and medical-legal. Articles must be well-documented and include a review of the appropriate literature.
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