Increased frequency of MEFV genes in patients with epigastric pain syndrome
, , , oraz | 29 gru 2017
O artykule
Article Category: Original Article
Data publikacji: 29 gru 2017
Zakres stron: 51 - 58
DOI: https://doi.org/10.1515/bjmg-2017-0020
Słowa kluczowe
© 2017 Coskun BD, Kiraz A, Sevinc E, Baspinar O, Cakmak E, published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.
The frequency of MEFV gene mutations in patients with epigastric pain syndrome and the control group.
| Genotype | Patient Group ( | Control Group ( |
|---|---|---|
| Mutation/– | 32 | 12 |
| Heterozygotes for one mutation: | ||
| R202Q/– | 15 | 2 |
| R761H/– | 5 | 0 |
| E148Q/– | 5 | 2 |
| V726A/– | 1 | 2 |
| M680I/– | 2 | 1 |
| G304R/– | 1 | 0 |
| M694I/– | 1 | 1 |
| Homozygotes for one muation: R202Q/R202Q | 3 | 0 |
| Compound heterozygotes for two mutations: | ||
| R202Q/R761H | 2 | 0 |
| K695R/V726A | 1 | 0 |
| P396S/R408Q | 1 | 0 |
| L110P/E148Q | 1 | 0 |
| M680I/V726A | 1 | 0 |
| Compound heterozygotes for three mutations: | ||
| R202Q/M694V/V726A | 2 | 0 |
| R202Q/R408Q/E148Q | 1 | 0 |
| R202Q/R202Q/P369S | 1 | 0 |
| Total | 75 | 20 |
Diagnostic criteria of epigastric pain syndrome (Rome III criteria).
| 1 | Pain or burning localized to the epigastrium of at least moderate severity, at least once per week | |
| 2 | The pain is intermittent | |
| 3 | Not generalized or localized to other abdnominal or chest regions | |
| 4 | Not relieved by defecation or passage of flatus | |
| 5 | Not fulfilling criteria for gallbladder or sphincter of Oddi disorders |
The demographic, clinical and laboratory characteristics of patients with epigastric pain syndrome and the control group.
| Parameters | Patient Group ( | Control Group ( |
|---|---|---|
| Gender | F: 54; M: 21 | F: 12; M: 8 |
| Age (years) | 38.9 ± 13.9 | 34.6 ± 7.6 |
| Family history of FMF | 18 (24.0%) | 0 (0.0%) |
| Consanguinity | 10 (13.3%) | 0 (0.0%) |
| Homozygotes | 3 (4.0%) | 0 (0.0%) |
| Heterozygotes | 30 (40.0%) | 8 (40.0%) |
| Compound heterozygotes | 10 (13.3%) | 0 (0.0%) |
| Fever | 28 (37.3%) | – |
| Arthralgia | 27 (36.0%) | – |
| Chest pain | 11 (14.6%) | – |
| Oral ulcers | 10 (13.3%) | – |
| Kidney stones | 9 (12.0%) | – |
Comparison of clinical findings between epigastric pain syndrome patients with/without MEFV gene mutations.
| Negative ( | Positive ( | ||
|---|---|---|---|
| Family history | 5 (5.8%) | 12 (14.1%) | 0.54 |
| Positive consanguinity | 3 (9.4%) | 7 (16.3%) | 0.38 |
| Fever | 10 (31.3%) | 18 (41.9%) | 0.35 |
| Arthalgia | 12 (37.5%) | 19 (44.2%) | 0.56 |
| Chest pain | 3 (9.4%) | 8 (18.6%) | 0.26 |
| Oral ulcers | 1 (3.1%) | 9 (20.9%) | 0.02 |
| Kidney stones | 0 (0.0%) | 9 (20.9%) | 0.01 |
The genotype, clinical and demographic findings in familial Mediterranean fever patients.
| Patient | Sex Age | Family History | Abdominal Pain | Fever | Arthalgia | Chest Pain | Microscopic Hematuria | |
|---|---|---|---|---|---|---|---|---|
| #1 | G304R/– | F–38 | [+] | [+] | [+] | [+] | [–] | [–] |
| #2 | R202Q/– | F–27 | [+] | [+] | [+] | [+] | [–] | [–] |
| #3 | V726A/K695R | F–28 | [+] | [+] | [+] | [+] | [–] | [–] |
| #4 | R202Q/R761H | F–19 | [+] | [+] | [+] | [+] | [–] | [–] |
| #5 | R202Q/R202Q | M–31 | [–] | [+] | [+] | [+] | [+] | [–] |
| #6 | V726A/M694V/R202Q | M–29 | [+] | [+] | [+] | [+] | [–] | [–] |
| #7 | V726A/M694V/R202Q | M–41 | [–] | [+] | [+] | [+] | [+] | [–] |
| #8 | R202Q/E148Q/R408Q | F–37 | [+] | [+] | [–] | [+] | [–] | [–] |