免疫疗法对一名患有夏科-马里-图斯病且PMP22基因存在罕见点突变的患者反复显示出明显疗效。

Repeated clear benefits of immunotherapy in a patient with Charcot-Marie-Tooth disease carrying a rare point mutation in PMP22.

作者信息

Kawai Honami, Nishida Yoichiro, Kanda Takashi, Yokota Takanori

机构信息

Department of Neurology and Neurological Science, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, 1-5-45, Yushima, Bunkyo-Ku, Tokyo, 113-8519, Japan.

Department of Neurology and Clinical Neuroscience, Yamaguchi University Graduate School of Medicine, Yamaguchi, 755-8505, Japan.

出版信息

Neurogenetics. 2025 Mar 24;26(1):37. doi: 10.1007/s10048-025-00808-9.

DOI:10.1007/s10048-025-00808-9

PMID:40126701

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11933163/

Abstract

We describe a unique patient who had been diagnosed with inflammatory demyelinating polyneuropathy (CIDP) for 13 years with frequent clear responses to immunotherapies and was finally diagnosed with Charcot-Marie-Tooth disease (CMT) with a rare point mutation in PMP22 (c.320G > A, p.G107D). Some patients diagnosed with young-onset CIDP may have underlying CMT, and extensive genetic testing including point mutations of PMP22 gene is required not to miss the diagnosis.

摘要

我们描述了一位独特的患者，该患者被诊断为炎性脱髓鞘性多发性神经病（CIDP）达13年之久，对免疫疗法常有明显反应，最终被诊断为伴有PMP22基因罕见点突变（c.320G＞A，p.G107D）的夏科-马里-图斯病（CMT）。一些被诊断为早发型CIDP的患者可能患有潜在的CMT，因此需要进行包括PMP22基因点突变在内的广泛基因检测，以免漏诊。