evaluation of the mefv gene mutations and clinical symptoms in186 patients diagnosed as familial mediterranean fever
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2015
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Abstract
Objective: This retrospective study aimed to evaluate the
clinical symptoms and the MEFV mutation ratios of the
186 patients diagnosed as Familial Mediterranean Fever.
Methods: Age, sex, admission symptoms, family history,
and the MEFV mutation test cases of the 186 patients
followed as Familial Mediterranean Fever were evaluated
retrospectively. MEFV gene was analyzed with DNA sequence
analysis after amplifying the exons 1.-10. using
PCR method.
Results: There were 84 male and 102 female in the study,
and the mean age was 9.45 ± 4.40 years. 26.9% of the
patients had close relationship between the parents, and
25.8% had a family history of AAA. The most common
symptoms were abdominal pain (92.5%), fever (89.2%),
and arthralgia (24.2%) respectively. The most common
mutations were R202Q (33.3%), M694V (22.6%), E148Q
(22%), V726A (7.5%), R761H (4.3%), M680I (3.8%),
and the others (6.5%) respectively. 21.5% homozygous,
67.7% heterozygous, and 10.8% compound heterozygous
mutations of AAA were detected.
Conclusion: FMF is a common disease in our country
and has difficulties in the differential diagnosis. In recent
years molecular genetically methods are considered
more commonly for the diagnosis. The results of this
study showed that our AAA patients have a wide range
of mutations, and supported the heterogeneity of MEFV
gene mutations in AAA.
| Reference Key |
abuhandan2015dicleevaluation
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|---|---|
| Authors | ;Mahmut Abuhandan;Cemil Kaya;Ahmet Güzelçiçek |
| Journal | journal of sulfur chemistry |
| Year | 2015 |
| DOI |
10.5798/diclemedj.0921.2015.01.0531
|
| URL | |
| Keywords |
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