PDF(Pubmed)
Abstract：
UNASSIGNED: 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).
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
未经证实：瑶族综合症（YAOS，OMIM617321）以前被指定为含核苷酸结合寡聚化结构域的蛋白质2（NOD2）相关的自身炎性疾病（NAID）。该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YAOS与家族性地中海热（FMF）。
未经评估：在这项回顾性研究中，回顾了YAOS病例系列的电子病历并进行了数据分析。所有患者均接受周期性发热综合征6基因组基因检测。
UNASSIGNED：共6例。这些患者最初被认为患有地中海FeVer（MEFV）阴性FMF，并接受秋水仙碱治疗。他们最终被诊断出患有YAOS。说明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MEFV和NOD2突变.携带两种基因突变的患者可能存在异质性疾病表达。需要表型和基因型之间的密切关系来进行诊断。
未经评估：YAOS可以模拟FMF。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。
未经评估：在这项回顾性研究中，回顾了YAOS病例系列的电子病历并进行了数据分析。所有患者均接受周期性发热综合征6基因组基因检测。
UNASSIGNED：共6例。这些患者最初被认为患有地中海FeVer（MEFV）阴性FMF，并接受秋水仙碱治疗。他们最终被诊断出患有YAOS。说明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MEFV和NOD2突变.携带两种基因突变的患者可能存在异质性疾病表达。需要表型和基因型之间的密切关系来进行诊断。
未经评估：YAOS可以模拟FMF。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。
