Association of clinical and genetical features in FMF with focus on MEFV strip assay sensitivity in 452 children from western Anatolia, Turkey

Clinical Rheumatology

Volumn 31, Issue 3, 2012, Pages 493-501

  Ozturk, Can ^a   Halicioglu, Oya ^a   Coker, Işil ^a   Gulez, Nesrin ^b   Sutçuoglu, Sumer ^a   Karaca, Neslihan ^b   Aksu, Guzide ^b   Kutukculer, Necil ^b  

^a SSK Tepecik Teaching Hospital   (Turkey)

^b EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

Author keywords

Childhood; Constipation; E148Q; Familial Mediterranean fever; M694V; MEFV strip assay; Splenomegaly

Indexed keywords

MEFV PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ABDOMINAL PAIN; ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CHILDHOOD; CONSTIPATION; CONTROLLED STUDY; DIARRHEA; DISEASE ASSOCIATION; DISEASE SEVERITY; FAMILIAL MEDITERRANEAN FEVER; FEMALE; FEVER; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENOTYPE; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MYALGIA; ORCHITIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCORING SYSTEM; SPLENOMEGALY; TURKEY (REPUBLIC);

ABDOMINAL PAIN; ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; FAMILIAL MEDITERRANEAN FEVER; FEMALE; FEVER; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MALE; MUSCLE WEAKNESS; MUTATION; PREDICTIVE VALUE OF TESTS; RETROSPECTIVE STUDIES; SENSITIVITY AND SPECIFICITY; SEVERITY OF ILLNESS INDEX; TURKEY;

EID: 84859750926     PISSN: 07703198     EISSN: 14349949     Source Type: Journal    
DOI: 10.1007/s10067-011-1876-1     Document Type: Article

References (46)

1. Majeed H, Rawashdeh M, El-Shanti H, Qubain H, Khuri-Bulos N, Shahin HM (1999) Familial Mediterranean fever in children: the expanded clinical profile. QJM 92:309-318 (Pubitemid 29308696)
2. Guindo J, Rodriguez de la Serna A, Ramio J, de Miguel Diaz MA, Subirana MT, Perez Ayuso MJ, Cosín J, Bayés de Luna A (1990) Recurrent pericarditis. Relief with colchicine. Circulation 82:1117-1120
3. Langevitz P, Zemer D, Livneh A, Shemer J, Pras M (1994) Protracted febrile myalgia in patients with familial Mediterranean fever. J Rheumatol 21:1708-1709 (Pubitemid 24285488)
4. Eshel G, Vinograd I, Barr J, Zemer D (1994) Acute scrotal pain complicating familial Mediterranean fever in children. Br J Surg 81:894-896 (Pubitemid 24204821)
5. Papin S, Cuenin S, Agostini L, Martinon F, Werner S, Beer HD, Grütter C, Grütter M, Tschopp J (2007) The SPYR domain of pyrin, mutated in familial Mediterranean fever patients, interacts with inflammasome components and inhibits proIL-1beta processing. Cell Death Differ 14:1457-1466 (Pubitemid 47096500)
6. Heller H, Sohar E, Sherf L (1958) Familial Mediterranean fever. AMA Arch Intern Med 102:50-71
7. Sohar E, Gafni J, Pras M, Heller H (1967) Familial Mediterranean fever: a survey of 470 cases and review of the literature. Am J Med 43:227-253
8. Ben-Chetrit E, Levy M (1998) Familial Mediterranean fever. Lancet 351:659-664 (Pubitemid 28098460)
9. Yazici H, Ozdogan H (1997) Familial Mediterranean fever in Turkey. In: Sohar E, Gafni J, Pras M (eds) Proceedings of the 1st International Conference on FMF (Jerusalem). Freund Publishing House Ltd., London, pp 66-71
10. Touitou I (2001) The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet 9:473-483
11. Ozen S, Karaaslan Y, Ozdemir O, Saatci U, Bakkaloglu A, Koroglu E, Tezcan S (1998) Prevalence of juvenile chronic arthritis and familial Mediterranean fever in Turkey: a field study. J Rheumatol 25:2445-2449 (Pubitemid 28551865)
12. Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N, Saatci U, Bakkaloglu A, Ozguc M (2001) Mutation frequency of Familial Mediterranean fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 9:553-555 (Pubitemid 32750497)
13. INFEVERS. The registry of familial Mediterranean fever (FMF) and hereditary autoinflammatory disorders mutations.http://fmf.igh.cnrs.fr/ISSAID/ infevers. Accessed 7 Nov 2008
14. The French FMF consortium (1997) A candidate gene for familial Mediterranean fever. Nat Genet 17:25-31
15. The International FMF Consortium (1997) Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90:797-807
16. Ben-Chetrit E, Lerer I, Malamud E, Domingo C, Abeliovich D (2000) The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant? Hum Mutat 15:385-386
17. Koné-Paut I, Hentgen V, Guillaume-Czitrom S, Compeyrot-Lacassagne S, Tran TA, Touitou I (2009) The clinical spectrum of 94 patients carrying a single mutated MEFV allele. Rheumatology 48:840-842
18. Turkish FMF Study Group (2005) Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) 84:1-11
19. Majeed HA, El-Shanti H, Al-Khateeb MS, Rabaiha ZA (2002) Genotype/phenotype correlations in Arab patients with familial Mediterranean fever. Semin Arthritis Rheum 31:371-376 (Pubitemid 34734376)
20. Inal A, Yilmaz M, Kendirli SG, Altintas DU, Karakoc GB (2009) The clinical and genetical features of 124 children with familial Mediterranean fever: experience of a single tertiary center. Rheumatol Int 29:1279-1285
21. Dusunsel R, Dursun I, Gündüz Z, Poyrazoglu MH, Gürgöze MK, Dundar M (2008) Genotype-phenotype correlation in children with familial Mediterranean fever in a Turkish population. Pediatr Int 50:208-212 (Pubitemid 351414780)
22. Yilmaz R, Ozer S, Ozyurt H, Erkorkmaz U, Sahin S (2009) Familial Mediterranean fever gene mutations in the inner northern region of Turkey and genotype-phenotype correlation in children. J Paediatr Child Health 45:641-645
23. Padeh S, Shinar Y, Pras E, Zemer D, Langevitz P, Pras M, Livneh A (2003) Clinical and diagnostic value of genetic testing in 216 Israeli children with familial Mediterranean fever. J Rheumatol 30:185-190 (Pubitemid 36077792)
24. Yalçinkaya F, Cakar N, Misirlioglu M, Tümer N, Akar N, Tekin M, Tastan H, Kocak H, Ozkaya N, Elhan AH (2000) Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: evidence for mutation-independent amyloidosis. Rheumatology 39:67-72 (Pubitemid 30095409)
25. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, Migdal A, Padeh S, Pras M (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40:1879-1885 (Pubitemid 27452541)
26. Pras E, Livneh A, Balow JE Jr, Kastner DL, Pras M, Langevitz P (1998) Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am J Med Genet A 75:216-219 (Pubitemid 28034505)
27. Delague V, Kriegshäuser G, Oberkanins C, Mégarbané A (2004) Reverse-hybridization vs. DNA sequencing in the molecular diagnosis of familial Mediterranean fever. Genet Test 8:65-68 (Pubitemid 38529670)
28. Majeed HA, Carroll JE, Khuffash FA, Hijazi Z (1990) Long-term colchicine prophylaxis in children with familial Mediterranean fever (recurrent hereditary polyserositis). J Pediatr 116:997-999 (Pubitemid 20201717)
29. Lidar M, Livneh A (2007) Familial Mediterranean fever: clinical, molecular and management advancements. Neth J Med 65:318-324 (Pubitemid 350011355)
30. Koksal B, Nur N, Sari M, Candan F, Acemoglu M, Kocak N, Ozen F, Ozdemir O (2009) Clinical and molecular analysis of common MEFV gene mutations in familial Mediterranean fever in Sivas population. Biologia 64:388-393
31. Sayarlioglu M, Cefle A, Inanc M, Kamali S, Dalkilic E, Gul A, Ocal L, Aral O, Konice M (2005) Characteristics of patients with adult onset familial Mediterranean fever in Turkey: analysis of 401 cases. Int J Clin Pract 59:202-205 (Pubitemid 40331221)
32. Ureten K, Gönülalan G, Akbal E, Güneş F, Akyürek O, Ozbek M, Ozturk MA (2010) Demographic, clinical and mutational characteristics of Turkish familial Mediterranean fever patients: results of a single center in Central Anatolia. Rheumatol Int 30:911-915
33. Solak M, Yildiz H, Köken R, Erdogan M, Eser B, Sen T, Evirgen N, Erdem S, Arikan E (2008) Analysis of familial Mediterranean fever gene mutations in 202 patients with familial Mediterranean fever. Genet Test 12:341-344
34. Marek-Yagel D, Bar-Joseph I, Pras E, Berkun Y (2009) Is E148Q a benign polymorphism or a disease-causing mutation? J Rheumatol 36:2372
35. Caglayan AO, Demiryilmaz F, Ozyazgan I, Gumus H (2010) MEFV gene compound heterozygous mutations in familial Mediterranean fever phenotype: a retrospective clinical and molecular study. Nephrol Dial Transplant 25:2520-2523
36. Topaloglu R, Ozaltin F, Yilmaz E, Ozen S, Balci B, Besbas N, Bakkaloglu A (2005) E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever. Ann Rheum Dis 64:750-752 (Pubitemid 40559303)
37. Dewalle M, Domingo C, Rozenbaum M, Ben-Chétrit E, Cattan D, Bernot A, Dross C et al (1998) Phenotype-genotype correlation in Jewish patients suffering from familial Mediterranean fever (FMF). Eur J Hum Genet 6:95-97 (Pubitemid 28101703)
38. Onen F (2006) Familial Mediterranean fever. Rheumatol Int 26:489-496
39. van den Berg MM, Benninga M, Di Lorenzo C (2006) Epidemiology of childhood constipation: a systematic review. Am J Gastroenterol 101:2401-2409 (Pubitemid 44477568)
40. Mor A, Gal R, Livneh A (2003) Abdominal and digestive system associations of familial Mediterranean fever. Am J Gastroenterol 98:2594-2604 (Pubitemid 38020095)
41. Cazeneuve C, Hovannesyan Z, Geneviève D, Hayrapetyan H, Papin S, Girodon-Boulandet E et al (2003) Familial Mediterranean fever among patients from Karabakh and the diagnostic value of MEFV gene analysis in all classically affected populations. Arthritis Rheum 48:2324-2331 (Pubitemid 36959215)
42. Akar N, Misiroglu M, Yalcinkaya F, Akar E, Cakar N, Tümer N et al (2000) MEFV mutations in Turkish patients suffering from familial Mediterranean fever. Hum Mutat 15:118-119
43. Kallinich T, Haffner D, Niehues T, Huss K, Lainka E, Neudorf U et al (2007) Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement. Pediatrics 119:474-483
44. Ozkaya N, Yalcinkaya F (2003) Colchicine treatment in children with familial Mediterranean fever. Clin Rheumatol 22(4):314-317 (Pubitemid 37483627)
45. Padeh S, Berkun Y (2007) Auto-inflammatory fever syndromes. Rheum Dis Clin N Am 33:585-623 (Pubitemid 47532353)
46. Gattorno M, Federici S, Pelagatti MA, Caorsi R, Brisca G,Malattia C, Martini A (2008) Diagnosis and management of autoinflammatory diseases in childhood. J Clin Immunol 28:73-83