PDF(Pubmed)
Abstract：
UNASSIGNED: Familial Mediterranean fever is a hereditary autoinflammatory disease affecting mainly Arabs, Turks, Armenians, and Jews with genotype-phenotype heterogeneity, presenting as recurrent episodes of fever along with polyserositis and rash. To date, more than 370 mutations in the MEFV gene have been recognized to cause the disease.
UNASSIGNED: We conducted a retrospective cohort study involving 124 patients in Hebron, Palestine, diagnosed with FMF at the Al-Ahli, and Palestinian Red Crescent Society (PRCS) Hospitals.
UNASSIGNED: The median age of diagnosis was five years, presenting as abdominal pain (76.6%), fever (67.7%), joint pain and arthritis. Regarding MEFV gene mutations, we had 62 patients (50%) with heterozygous genotypes, 40 patients (32.3%) with homozygous phenotypes, 21 patients (16.9%) with compound heterozygous genotypes, and one was a missing state. Regarding variant frequencies, M694V was the most common one (43.4%), followed by E148Q (15.6%), V726A (5.7%), A744S (4.1%), and R202Q (4.1%). Positive family history was detected in 59 patients (54.6%), and there was no significant difference in zygosity regarding characteristics, consanguinity, and family history.
UNASSIGNED: We affirm in this study of 124 children with FMF, abdominal pain, followed by fever, joint pain and arthritis were the main manifestations. Further, M694V, E148Q, V726A, A744S, and R202Q were the most frequent mutations, and carrying the M649V mutations is associated with a predisposition to other comorbidities. We believe that this study gives a pervasive overview of FMF in Palestinian patients. Looking forward, future studies on a larger number of patients could precisely highlight the genotype-phenotype association among FMF patients.
UNASSIGNED: We conducted a retrospective cohort study involving 124 patients in Hebron, Palestine, diagnosed with FMF at the Al-Ahli, and Palestinian Red Crescent Society (PRCS) Hospitals.
UNASSIGNED: The median age of diagnosis was five years, presenting as abdominal pain (76.6%), fever (67.7%), joint pain and arthritis. Regarding MEFV gene mutations, we had 62 patients (50%) with heterozygous genotypes, 40 patients (32.3%) with homozygous phenotypes, 21 patients (16.9%) with compound heterozygous genotypes, and one was a missing state. Regarding variant frequencies, M694V was the most common one (43.4%), followed by E148Q (15.6%), V726A (5.7%), A744S (4.1%), and R202Q (4.1%). Positive family history was detected in 59 patients (54.6%), and there was no significant difference in zygosity regarding characteristics, consanguinity, and family history.
UNASSIGNED: We affirm in this study of 124 children with FMF, abdominal pain, followed by fever, joint pain and arthritis were the main manifestations. Further, M694V, E148Q, V726A, A744S, and R202Q were the most frequent mutations, and carrying the M649V mutations is associated with a predisposition to other comorbidities. We believe that this study gives a pervasive overview of FMF in Palestinian patients. Looking forward, future studies on a larger number of patients could precisely highlight the genotype-phenotype association among FMF patients.
摘要：
■家族性地中海热是一种遗传性自身炎症性疾病，主要影响阿拉伯人，土耳其人,亚美尼亚人,和具有基因型-表型异质性的犹太人，表现为反复发作的发热伴多发性浆膜炎和皮疹。迄今为止,已经认识到MEFV基因中的370多个突变会导致这种疾病。
■我们进行了一项回顾性队列研究，涉及希伯伦的124例患者，巴勒斯坦,在Al-Ahli被诊断出患有FMF，巴勒斯坦红新月会（PRCS）医院。
■诊断年龄中位数为5岁,表现为腹痛（76.6%），发烧(67.7%)，关节痛和关节炎.关于MEFV基因突变，我们有62名患者（50％）具有杂合基因型，40例患者（32.3%）具有纯合表型，21例患者（16.9%）为复合杂合基因型，一个是失踪的国家。关于变异频率，M694V是最常见的一种（43.4％），其次是E148Q（15.6%），V726A（5.7%），A744S（4.1%），和R202Q（4.1%）。59例患者有阳性家族史（54.6%），关于特征的接合性没有显著差异，血缘,和家族史。
■我们在这项对124名FMF儿童的研究中确认，腹痛,接着是发烧,关节疼痛和关节炎是主要表现。Further,M694V,E148Q,V726A,A744S,R202Q是最常见的突变，携带M649V突变与其他合并症的易感性有关。我们认为，这项研究对巴勒斯坦患者的FMF进行了广泛的概述。展望未来,未来对更多患者的研究可以准确地强调FMF患者的基因型-表型相关性.
■我们进行了一项回顾性队列研究，涉及希伯伦的124例患者，巴勒斯坦,在Al-Ahli被诊断出患有FMF，巴勒斯坦红新月会（PRCS）医院。
■诊断年龄中位数为5岁,表现为腹痛（76.6%），发烧(67.7%)，关节痛和关节炎.关于MEFV基因突变，我们有62名患者（50％）具有杂合基因型，40例患者（32.3%）具有纯合表型，21例患者（16.9%）为复合杂合基因型，一个是失踪的国家。关于变异频率，M694V是最常见的一种（43.4％），其次是E148Q（15.6%），V726A（5.7%），A744S（4.1%），和R202Q（4.1%）。59例患者有阳性家族史（54.6%），关于特征的接合性没有显著差异，血缘,和家族史。
■我们在这项对124名FMF儿童的研究中确认，腹痛,接着是发烧,关节疼痛和关节炎是主要表现。Further,M694V,E148Q,V726A,A744S,R202Q是最常见的突变，携带M649V突变与其他合并症的易感性有关。我们认为，这项研究对巴勒斯坦患者的FMF进行了广泛的概述。展望未来,未来对更多患者的研究可以准确地强调FMF患者的基因型-表型相关性.
