Ahmad Anam, Kilian Adam
Rheumatology, Saint Louis University School of Medicine, St. Louis, USA.
Rheumatology, St. Luke's Hospital, Chesterfield, USA.
Cureus. 2024 Jun 12;16(6):e62245. doi: 10.7759/cureus.62245. eCollection 2024 Jun.
Yao syndrome, a rare autoinflammatory disorder linked to mutations in the nucleotide-binding oligomerization domain-containing protein-2 (NOD2) gene, manifests through periodic fever, polyarthritis, dermatitis, gastrointestinal disturbances, and sicca-like symptoms. The therapeutic landscape is limited, primarily encompassing glucocorticoids, interleukin-1 (IL-1), and IL-6 inhibitors. This report details the case of a teenager with periodic fevers, arthritis, livedo reticularis, and NOD2 gene mutations R702W and IVS8+158C consistent with Yao syndrome. The individual demonstrated significant improvement with canakinumab therapy. This case report aims to enhance recognition and understanding of Yao syndrome's clinical spectrum and management options.
姚氏综合征是一种罕见的自身炎症性疾病，与含核苷酸结合寡聚化结构域蛋白2（NOD2）基因的突变有关，其表现为周期性发热、多关节炎、皮炎、胃肠道紊乱和干燥样症状。治疗方法有限，主要包括糖皮质激素、白细胞介素-1（IL-1）和IL-6抑制剂。本报告详细介绍了一名青少年的病例，该患者有周期性发热、关节炎、网状青斑，且NOD2基因突变R702W和IVS8+158C与姚氏综合征相符。该患者使用卡那单抗治疗后有显著改善。本病例报告旨在提高对姚氏综合征临床谱和管理方案的认识与理解。
