Knitza J, Kampylafka E, Wacker J, Schett G, Manger B
Medizinische Klinik 3 - Rheumatologie und Immunologie, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Ulmenweg 18, 91054, Erlangen, Deutschland.
Z Rheumatol. 2019 Feb;78(1):66-71. doi: 10.1007/s00393-018-0566-7.
During the last 3 years 4 patients were admitted to this hospital with a wide variety of different symptoms, in whom Erdheim-Chester disease (ECD) was diagnosed via different diagnostic pathways.
Based on four clinical cases of ECD and using additional information from the literature, this article presents the symptoms of ECD. Furthermore, similarities and differences in comparison to important rheumatological differential diagnoses are presented.
The ECD is a multi-organ orphan disease. Typical for the disease are long bone involvement, periarterial inflammation especially of the aorta, retroperitoneal and perirenal fibrosis with so-called hairy kidneys in abdominal computed tomography (CT) scans. Treatment is increasingly directed towards the presence of a BRAF mutation, which enables targeted and effective treatment with BRAF inhibitors.
The ECD is a rare differential diagnosis to rheumatic diseases that causes various and often nonspecific symptoms. Due to modern diagnostic methods with imaging procedures and biopsies it is possible to establish a precise diagnosis and provide a targeted and effective treatment.
在过去3年中，有4名患者因各种不同症状入住本院，通过不同诊断途径确诊为 Erdheim-Chester 病（ECD）。
基于4例ECD临床病例并结合文献中的其他信息，本文介绍了ECD的症状。此外，还介绍了与重要风湿性鉴别诊断相比的异同点。
ECD是一种多器官罕见病。该病的典型表现为长骨受累、动脉周围炎症（尤其是主动脉）、腹膜后和肾周纤维化，腹部计算机断层扫描（CT）显示所谓的“毛肾”。治疗越来越多地针对BRAF突变的存在，这使得使用BRAF抑制剂进行靶向有效治疗成为可能。
ECD是一种罕见的风湿性疾病鉴别诊断，可引起各种且通常是非特异性的症状。由于采用了影像学检查和活检等现代诊断方法，有可能做出准确诊断并提供靶向有效治疗。
