赫曼斯基-普德拉克综合征:一种罕见的先天性疾病,伴有间歇性肺部疾病
Sreeja Sanampudi1, Aashna Vajramani2, Kiran Batra3
1Radiology, University of Texas (UT) Southwestern Medical Center, Dallas, USA.
Cureus
|August 21, 2024
概括
赫曼斯基-普德拉克综合征 (HPS) 是一种罕见的遗传疾病,影响多个器官. 本案例报告详细介绍了HPS肺部成像,强调了模仿异常性肺纤维化但具有明显特征的特征.
科学领域:
- 肺部病理学 肺部病理学
- 遗传学 是一个遗传学.
- 放射学 放射学是一门学科.
背景情况:
- 赫曼斯基-普德拉克综合征 (HPS) 是一种罕见的遗传疾病.
- 它的特征是眼皮性白化,出血性透析,粒状结肠炎和肺纤维化.
- 某些HPS亚型具有更高的肺纤维化风险.
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