Yao Qingping, Shen Min, Gorevic Peter
Department of Medicine, Division of Rheumatology, Allergy and Immunology, Stony Brook University Renaissance School of Medicine, Stony Brook, NY, USA.
Department of Rheumatology and Clinical Immunology, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Rheumatol Immunol Res. 2021 Dec 31;2(4):233-239. doi: 10.2478/rir-2021-0032. eCollection 2021 Dec.
Yao syndrome (YAOS, OMIM 617321) was formerly designated as nucleotide-binding oligomerization domain-containing protein-2 (NOD2)-associated autoinflammatory disease (NAID). This disorder shares similar clinical phenotypes with hereditary periodic fever syndromes (HPFS). This study aimed to compare YAOS with familial Mediterranean fever (FMF).
In this retrospective study, electronic medical records of a case series of YAOS were reviewed and data were analyzed. All patients underwent genetic testing for periodic fever syndrome 6-gene panel.
A total of 6 cases were presented. These patients were initially thought to have MEditerranean FeVer (MEFV)-negative FMF and received treatment with colchicine. They were eventually diagnosed with YAOS. The differences between these diseases were illustrated. In addition, both MEFV and NOD2 mutations were detected in some patients and family members. Patients with carriage of both gene mutations may present with heterogeneous disease expression. A close correlation between phenotypes and genotypes is needed to make a diagnosis.
YAOS may mimic FMF. Molecular analysis should cover NOD2 whole gene sequencing to help distinguish these diseases. Both NOD2 and MEFV mutations may contribute to disease expression in an individual.
姚氏综合征（YAOS，OMIM 617321）曾被指定为含核苷酸结合寡聚化结构域蛋白2（NOD2）相关的自身炎症性疾病（NAID）。这种疾病与遗传性周期性发热综合征（HPFS）具有相似的临床表型。本研究旨在比较姚氏综合征与家族性地中海热（FMF）。
在这项回顾性研究中，对一系列姚氏综合征病例的电子病历进行了回顾并分析了数据。所有患者均接受了周期性发热综合征6基因检测。
共呈现6例病例。这些患者最初被认为患有地中海热（MEFV）阴性的家族性地中海热，并接受了秋水仙碱治疗。他们最终被诊断为姚氏综合征。阐述了这些疾病之间的差异。此外，在一些患者和家庭成员中检测到了MEFV和NOD2突变。携带两种基因突变的患者可能表现出异质性疾病表达。需要密切关联表型和基因型以做出诊断。
姚氏综合征可能类似家族性地中海热。分子分析应涵盖NOD2全基因测序以帮助区分这些疾病。NOD2和MEFV突变都可能导致个体的疾病表达。
