Clinical evaluation of R202Q alteration of MEFV genes in Turkish children.
作者： Elif Comak , Sema Akman , Mustafa Koyun , Cagla Serpil Dogan , Arife Uslu Gokceoglu
DOI: 10.1007/S10067-014-2602-6
关键词: myalgia 、 Gastroenterology 、 Pathology 、 Compound heterozygosity 、 Arthritis 、 Abdominal pain 、 Rheumatology 、 Internal medicine 、 Chest pain 、 MEFV 、 Familial Mediterranean fever 、 Medicine
摘要: To date, over 200 alterations have been reported in Mediterranean fever (MEFV) genes, but it is not clear whether all these are disease-causing mutations. This study aims to evaluate the clinical features of children with R202Q alteration. The medical records alteration were reviewed retrospectively. A total 225 children, 113 males, included. Fifty-five patients heterozygous, 30 homozygous for R202Q, and 140 compound heterozygous. Classical familial (FMF) phenotype was present patients: 2 heterozygous 7 46 double M694V, 58 main characteristics abdominal pain 71.5 %, 37.7 arthralgia/myalgia 30.2 arthritis 10.2 chest 14.6 % erysipelas-like erythema 13.3 %. frequency significantly lower (p = 0.021), whereas mutations, though statistically significant, had a higher (40.0 p 0.05). MEFV gene leads symptoms consistent FMF some cases. may be associated mild shows phenotypic differences other than common
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