Genotype-Phenotype Correlation Expressed as Cardiac Amyloidosis in “FMF-like” Disease
نویسندگان
چکیده
Familial Mediterranean Fever, the most common autoinflammatory disease, is inherited in an autosomal recessive pattern. During the recent years, a new phenotype has been described concerning heterozygous carriers of Mediterranean Fever (MEFV) mutations that express typical clinical features of Familial Mediterranean Fever (FMF). This new pattern of genotype-phenotype correlation is called “FMF-like” disease.
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 کاملGenotype-phenotype correlation in a large group of Turkish patients with familial mediterranean fever: evidence for mutation-independent amyloidosis.
OBJECTIVES Differences in clinical manifestations of familial Mediterranean fever (FMF) between different ethnic groups have been documented. The FMF gene was recently cloned and four missense mutations (Met694Val, Met680Ile, Val726Ala, and Met694Ile) that account for a large percentage of the patients were identified. The results of initial mutation studies have led to the hypothesis that phen...
متن کاملFamilial Mediterranean fever: effects of genotype and ethnicity on inflammatory attacks and amyloidosis.
OBJECTIVE The gene causing familial Mediterranean fever (FMF)-an autosomal recessive disease characterized by recurrent short episodes of fever associated most commonly with peritonitis, pleuritis, and arthritis-has recently been found and several mutations identified. The most severe complication of the disease is amyloidosis, which can lead to renal failure. The aim of this study was to inves...
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 gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study.
BACKGROUND Familial Mediterranean fever (FMF) is an autosomal-recessive inherited inflammatory disease caused by mutations in the MEFV gene that encodes pyrin/marenostrin. It is characterized by recurrent short episodes of fever, abdominal pain and serositis affecting mainly Mediterranean and Middle Eastern populations. We determined the frequency of the compound heterozygous mutations which ha...
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