Glück C, Waertel G, Schminke L, Brossmann C, Lehringer-Polzin M, Anagnostopoulos I, Hartung W, Fleck M, Glück Thomas
Interdisziplinäre Medizinische Intensivtherapie, Uniklinikum Freiburg, Freiburg, Deutschland.
Orthopädisch-Rheumatologische Praxis, München, Deutschland.
Inn Med (Heidelb). 2025 Aug 5. doi: 10.1007/s00108-025-01968-4.
This case of a patient with Erdheim-Chester disease highlights the problems in diagnosing this very rare, largely unknown, but highly inflammatory non-Langerhans histiocytosis. This disease shows some characteristic clinical and molecular features including the BRAF V600E mutation, which was also demonstrated in this case in a perirenal tissue biopsy. The patient's condition improved under treatment with peginterferon alfa-2a and anakinra. However, remission for what is now 3 years was only achieved with the combination of anakinra and the BRAF inhibitor dabrafenib.
该例厄德里希-切斯特病患者凸显了诊断这种极为罕见、知之甚少但具有高度炎症性的非朗格汉斯组织细胞增多症时所面临的问题。这种疾病呈现出一些特征性的临床和分子特征，包括BRAF V600E突变，该突变在本例患者的肾周组织活检中也得到了证实。患者在接受聚乙二醇干扰素α-2a和阿那白滞素治疗后病情有所改善。然而，仅通过阿那白滞素与BRAF抑制剂达拉非尼联合使用才实现了长达3年的缓解。
