PDF(Pubmed)
Abstract：
UNASSIGNED: This study aims to investigate a genetic panel in patients with periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) syndrome and examine its performance for an accurate differential diagnosis.
UNASSIGNED: Between January 2021 and January 2022, a total of 104 children with PFAPA syndrome (63 males, 41 females; mean age: 4.8±2.3 years; range, 1.2 to 8.9 years) were retrospectively analyzed. Next-generation sequencing test was performed using a custom QIAGEN- QIAseq™ Targeted DNA Panel which includes six genes namely ELANE, LPIN2, MEFV, MVK, NLRP3, and TNFRSF1A.
UNASSIGNED: Of 104 patients, 38 (36.5%) had variants in the genetic panel. The most common variants were found in the MEFV gene (n=35, 33.6%), the most frequent genotype was E148Q heterozygosity (n=16). Four and two patients were eventually diagnosed with Familial Mediterranean fever (FMF) and hyperimmunoglobulin D syndrome (HIDS), since they had confirmative biallelic pathogenic in the MEFV and MVK genes, respectively.
UNASSIGNED: A genetic panel, including MEFV and MVK genes, may be useful in patients, clinically resembling PFAPA, since they may have HIDS or FMF, but lack typical features of the exact disease. Nonetheless, we believe that distinct genetic panels should be developed for different populations.
UNASSIGNED: Between January 2021 and January 2022, a total of 104 children with PFAPA syndrome (63 males, 41 females; mean age: 4.8±2.3 years; range, 1.2 to 8.9 years) were retrospectively analyzed. Next-generation sequencing test was performed using a custom QIAGEN- QIAseq™ Targeted DNA Panel which includes six genes namely ELANE, LPIN2, MEFV, MVK, NLRP3, and TNFRSF1A.
UNASSIGNED: Of 104 patients, 38 (36.5%) had variants in the genetic panel. The most common variants were found in the MEFV gene (n=35, 33.6%), the most frequent genotype was E148Q heterozygosity (n=16). Four and two patients were eventually diagnosed with Familial Mediterranean fever (FMF) and hyperimmunoglobulin D syndrome (HIDS), since they had confirmative biallelic pathogenic in the MEFV and MVK genes, respectively.
UNASSIGNED: A genetic panel, including MEFV and MVK genes, may be useful in patients, clinically resembling PFAPA, since they may have HIDS or FMF, but lack typical features of the exact disease. Nonetheless, we believe that distinct genetic panels should be developed for different populations.
摘要：
■这项研究旨在调查周期性发热患者的遗传小组，口疮性口炎，咽炎,和腺瘤炎（PFAPA）综合征，并检查其表现以进行准确的鉴别诊断。
■在2021年1月至2022年1月之间，共有104名PFAPA综合征儿童（63名男性，41名女性；平均年龄：4.8±2.3岁；范围，1.2至8.9年)进行回顾性分析。使用定制的QIAGEN-QIAseq™靶向DNA面板进行下一代测序测试，该面板包括六个基因，即ELANE，LPIN2,MEFV,MVK,NLRP3和TNFRSF1A。
■104名患者,38（36.5％）在遗传组中有变异。在MEFV基因中发现了最常见的变异（n=35，33.6％），最常见的基因型是E148Q杂合性(n=16)。4名和2名患者最终被诊断为家族性地中海热（FMF）和高免疫球蛋白D综合征（HIDS），由于它们在MEFV和MVK基因中具有确认的双等位基因致病性，分别。
■遗传小组，包括MEFV和MVK基因，可能对患者有用，临床上类似PFAPA，因为他们可能有HIDS或FMF，但缺乏确切疾病的典型特征。尽管如此，我们认为应该为不同的人群开发不同的遗传小组。
■在2021年1月至2022年1月之间，共有104名PFAPA综合征儿童（63名男性，41名女性；平均年龄：4.8±2.3岁；范围，1.2至8.9年)进行回顾性分析。使用定制的QIAGEN-QIAseq™靶向DNA面板进行下一代测序测试，该面板包括六个基因，即ELANE，LPIN2,MEFV,MVK,NLRP3和TNFRSF1A。
■104名患者,38（36.5％）在遗传组中有变异。在MEFV基因中发现了最常见的变异（n=35，33.6％），最常见的基因型是E148Q杂合性(n=16)。4名和2名患者最终被诊断为家族性地中海热（FMF）和高免疫球蛋白D综合征（HIDS），由于它们在MEFV和MVK基因中具有确认的双等位基因致病性，分别。
■遗传小组，包括MEFV和MVK基因，可能对患者有用，临床上类似PFAPA，因为他们可能有HIDS或FMF，但缺乏确切疾病的典型特征。尽管如此，我们认为应该为不同的人群开发不同的遗传小组。
