The MEFV gene pathogenic variants and phenotype-genotype correlation in children with familial Mediterranean fever in the Çanakkale population
, , , , , , , e | 31 dic 2016
INFORMAZIONI SU QUESTO ARTICOLO
Article Category: Original Article
Pubblicato online: 31 dic 2016
Pagine: 23 - 28
DOI: https://doi.org/10.1515/bjmg-2016-0032
Parole chiave
© 2016 Battal F, Silan F, Topaloğlu N, Aylanç H, Yıldırım Ş, Köksal Binnetoğlu F, Tekin M, Kaymaz N, Ozdemir O
This article is distributed under the terms of the Creative Commons Attribution Non-Commercial License, which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
Frequency of common clinical manifestations related to the 12 pathogenic variant types in the presented cases and gen-otype-phenotype correlation in patients with familial Mediterranean fever according to the method of Mor et al. [11].
| FMF Patients | Clinical Characteristics | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Erythema | Fever | Abdominal Pain | Arthritis | |||||||||||
| Mutation Type | % | With | Total | With | Total | With | Total | With | Total | |||||
| p.Met694Val | 12 | 20.0 | 2 | 66.7 | 3.3 | 3 | 21.4 | 5.0 | 6 | 18.8 | 10.0 | 3 | 21.4 | 5.0 |
| p.Glu148Gln | 8 | 13.3 | 0 | – | – | 0 | – | – | 4 | 12.5 | 6.7 | 1 | 7.1 | 1.7 |
| p.Met680Ile | 7 | 11.7 | 0 | – | – | 1 | 7.1 | 1.7 | 4 | 12.5 | 6.7 | 2 | 14.3 | 3.3 |
| p.Arg202Gln | 7 | 11.7 | 0 | – | – | 3 | 21.4 | 5.0 | 5 | 15.6 | 8.3 | 2 | 14.3 | 3.3 |
| p.Val726Ala | 4 | 6.7 | 0 | – | – | 0 | – | – | 2 | 6.3 | 3.3 | 0 | – | – |
| p.Pro369Ser | 3 | 5.0 | 1 | 33.3 | 1.7 | 2 | 14.3 | 3.3 | 2 | 6.3 | 3.3 | 3 | 21.4 | 5.0 |
| p.Lys695Arg | 3 | 5.0 | 0 | – | – | 0 | – | – | 1 | 3.1 | 1.7 | 2 | 14.3 | 3.3 |
| p.Arg761His | 2 | 3.3 | 0 | – | – | 1 | 7.1 | 1.7 | 2 | 6.3 | 3.3 | 0 | – | – |
| IL28B | 1 | 1.7 | 0 | – | – | 1 | 7.1 | 1.7 | 1 | 3.1 | 1.7 | 0 | – | – |
| p.Glu244Asp | 1 | 1.7 | 0 | – | – | 0 | – | – | 0 | – | – | 0 | – | – |
| p.Met680Ile/p.Met694Val | 4 | 6.7 | 0 | – | – | 0 | – | – | 2 | 6.3 | 3.3 | 1 | 7.1 | 1.7 |
| p.Met694Val/p.Met694Ile | 2 | 3.3 | 0 | – | – | 0 | – | – | 0 | – | – | 0 | – | – |
| p.Glu148Gln/p.Met694Val | 1 | 1.7 | 0 | – | – | 0 | – | – | 0 | – | – | 0 | – | – |
| p.Met680Leu/p.Glu148Gln | 1 | 1.7 | 0 | – | – | 2 | 14.3 | 3.3 | 1 | 3.1 | 1.7 | 0 | – | – |
| p.Arg200Gln/p.Met694Val | 1 | 1.7 | 0 | – | – | 0 | – | – | 0 | – | – | 0 | – | – |
| p.Val726Ala/p.Arg202Gln | 1 | 1.7 | 0 | – | – | 1 | 7.1 | 1.7 | 1 | 3.1 | 1.7 | 0 | – | – |
| p.Pro369Ser/p.Glu148Gln | 1 | 1.7 | 0 | – | – | 0 | – | – | 1 | 3.1 | 1.7 | 0 | – | – |
| p.Lys695Arg/p.Arg202Gln/p.Glu244Asp | 1 | 1.7 | 0 | – | – | 0 | – | – | 0 | – | – | 0 | – | – |
| Total | 60 | 3 | 100.0 | 5.0 | 14 | 100.0 | 23.4 | 32 | 100.0 | 53.4 | 14 | 100.0 | 23.3 | |
Analysis of presenting gender and clinical manifestations of familial Mediterranean fever cases in the current study.
| Clinical Characteristics | FMF Patients ( |
|---|---|
| Mean age (3-18 years) | 10.48 ± 4.83 |
| Gender: | |
| males | 28 (46.7) |
| females | 32 (53.3) |
| Pathogenic variant type: | |
| heterozygous | 42 (70.0) |
| homozygous | 6 (10.0) |
| compound | 12 (20.0) |
| Appendectomy history: | |
| yes | 4 (6.7) |
| no | 56 (93.3) |
| Parental consanguinity: | |
| yes | 8 (13.3) |
| no | 52 (86.7) |
| Erysipelas-like erythema: | |
| yes | 3 (5.0) |
| no | 57 (95.0) |
| Fever: | |
| yes | 14 (23.3) |
| no | 46 (76.6) |
| Arthritis: | |
| yes | 14 (23.3) |
| no | 46 (76.6) |
| Abdominal pain: | |
| yes | 32 (53.3) |
| no | 28 (46.7) |
| Colchicine therapy (1-2 mg/day): | |
| treated | 48 (80.0) |
| untreated | 12 (20.0) |