Degnan Andrew J, Ho-Fung Victor M, Ahrens-Nicklas Rebecca C, Barrera Christian A, Serai Suraj D, Wang Dah-Jyuu, Ficicioglu Can
Department of Radiology, Children's Hospital of Philadelphia, 3401 Civic Center Blvd., Philadelphia, PA, 19104, USA.
Department of Radiology, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Blvd., Philadelphia, PA, 19104, USA.
Insights Imaging. 2019 Jul 10;10(1):70. doi: 10.1186/s13244-019-0743-5.
Gaucher disease is an inherited metabolic disorder resulting in deficiency of lysosomal enzyme β-glucocerebrosidase causing the accumulation of abnormal macrophages ("Gaucher cells") within multiple organs, most conspicuously affecting the liver, spleen, and bone marrow. As the most common glycolipid metabolism disorder, it is important for radiologists encountering these patients to be familiar with advances in imaging of organ and bone marrow involvement and understand the role of imaging in clinical decision-making. The recent advent of commercially available, reliable, and reproducible quantitative MRI acquisitions to measure fat fractions prompts revisiting the role of quantitative assessment of bone marrow involvement. This manuscript reviews the diverse imaging manifestations of Gaucher disease and discusses more optimal quantitative approaches to ascertain solid organ and bone marrow involvement with an emphasis on future applications of other quantitative methods including elastography.
戈谢病是一种遗传性代谢紊乱疾病，会导致溶酶体酶β-葡萄糖脑苷脂酶缺乏，进而引起多个器官内异常巨噬细胞（“戈谢细胞”）的蓄积，最明显的是影响肝脏、脾脏和骨髓。作为最常见的糖脂代谢紊乱疾病，对于接触这些患者的放射科医生而言，熟悉器官和骨髓受累的影像学进展并了解影像学在临床决策中的作用非常重要。近期出现了可用于测量脂肪分数的商用、可靠且可重复的定量MRI采集方法，这促使人们重新审视骨髓受累定量评估的作用。本文综述了戈谢病的各种影像学表现，并讨论了用于确定实体器官和骨髓受累情况的更优化定量方法，重点是包括弹性成像在内的其他定量方法的未来应用。
