Patients with FMF Associated Spondyloarthropathy Who Has Heterozygous M694V Mutation: A Case Report
نویسندگان
چکیده
منابع مشابه
FMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis
Objective(s):Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and ...
متن کاملThymoma Associated with Hypergammaglobulinemia: A Case Report
Thymoma is a term that should be restricted to neoplasms of thymic epithelial cells, irrespective of the presence or the number of lymphocytes. The usual location of thymoma is the antrosuperior mediastinum; however, this tumor can also occur in other mediastinal compartments, in the neck, within the thyroid gland, in the pericardial cavity, the pulmonary hilum, within the lung parenchyma, o...
متن کاملFMF Genotype-phenotype correlation in Iranian Azeri Turks: Association between M694V/R761H mutation and amyloidosis
OBJECTIVES Familial Mediterranean fever (FMF), an inherited autosomal recessive disorder, is frequently present among individuals of Mediterranean origin. Differences in the clinical manifestations of FMF between different ethnic groups have been documented. The aim of the present study was to determine the most common characteristics of FMF and the relationship between clinical findings and th...
متن کاملMEFV M694V mutation has a role in susceptibility to ankylosing spondylitis: A meta-analysis
OBJECTIVE The aim of the current study was to determine the contributions of several common mutations in the Mediterranean fever (MEFV) gene, namely, E148Q, M680I, M694V and V726A, to ankylosing spondylitis (AS) susceptibility. METHODS Two investigators independently searched the literature regarding the association of MEFV with AS in the PubMed, EMBASE, Web of Science, and Scopus databases. ...
متن کاملEnthesitis in a 16-Year-Old Boy with M694V Mutation
Introduction. FMF (Familial Mediterranean Fever) is characterized by recurrent attacks of fever and articular pain. Enthesitis is the hallmark of pain in spondyloarthropathy. Literature suggests association of M694V mutation and enthesitis. We report a case of a 16-year-old boy with enthesitis and FMF. Case Presentation. A 16-year-old boy of Turkish origin with a history of FMF presented with l...
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ژورنال
عنوان ژورنال: Meandros Medical and Dental Journal
سال: 2020
ISSN: 2149-9063,2149-9063
DOI: 10.4274/meandros.galenos.2016.2732