Unresponsiveness to colchicine therapy in patients with familial mediterranean fever homozygous for the M694V mutation

Journal of Rheumatology

Volumn 37, Issue 1, 2010, Pages 182-189

  Soylemezoglu, Oguz ^a   Arga, Mustafa ^a,b   Fidan, Kibriya ^a,b   Gonen, Sevim ^a,b   Emeksiz, Hamdi Cihan ^a,b   Hasanoglu, Enver ^a   Buyan, Necla ^a  

^a Department of Pediatric Nephrology ^*  (Turkey)

^b GAZI UNIVERSITY   (Turkey)

Author keywords

Childhood; Familial mediterranean fever; Genotype phenotype correlation; Response to colchicine

Indexed keywords

COLCHICINE;

ALLELE; AMYLOIDOSIS; ARTICLE; CHILD; CLINICAL FEATURE; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE COURSE; DRUG DOSE INCREASE; DRUG DOSE REDUCTION; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN TISSUE; M694V GENE; MAJOR CLINICAL STUDY; MALE; PEDIATRICS; PHENOTYPE; PRIORITY JOURNAL; PROTEINURIA; RISK; TREATMENT RESPONSE; UNSPECIFIED SIDE EFFECT;

CHILD; CHILD, PRESCHOOL; COLCHICINE; FAMILIAL MEDITERRANEAN FEVER; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MUTATION; PHENOTYPE;

EID: 73649118138     PISSN: 0315162X     EISSN: None     Source Type: Journal    
DOI: 10.3899/jrheum.090273     Document Type: Article

References (50)

1. Sohar E, Gafni J, Pras M, Heler H. Familial Mediterranean fever. A survey of 470 cases and review of literature. Am J Med 1967;43:227-53.
2. Yilmaz E, Ozen S, Balci B, Duzova A, Topaloglu R, Besbas N, et al. Mutation frequency of familial Mediterranean fever and evidence for a high carrier rate in the Turkish population. Eur J Hum Genet 2001;9:553-5.
3. Cazeneuve C, Sarkisian T, Pêcheux C, Dervichian M, Nédelec B, Reinert P, et al. MEFV-gene analysis in Armenian patients with familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype - genetic and therapeutic implications. Am J Hum Genet 1999;65:88-97.
4. Padeh S, Shinar Y, Pras E, Zemer D, Langevitz P, Pras M, et al. Clinical and diagnostic value of genetic testing in 216 Israeli children with familial Mediterranean fever. J Rheumatol 2003;30:185-90.
5. Majeed HA, El-Khateeb M, El-Shanti H, Rabaiha ZA, Tayeh M, Najib D. The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series. Semin Arthritis Rheum 2005;34:813-8.
6. Akar N, Misiroglu M, Yalcinkaya F, Akar E, Cakar N, Tümer N, et al. MEFV mutations in Turkish patients suffering from familial Mediterranean fever. Hum Mutat 2000;15:118-9.
7. Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, et al. Familial Mediterranean fever in Turkey: results of a nationwide multicenter study. Medicine 2005;84:1-11.
8. Ozdemir AL, Somken C. Familial Mediterranean fever among the Turkish people. Am J Gastroenterol 1969;51:311-16.
9. Pras E, Livneh A, Balow JE Jr, Pras E, Kastner DL, Pras M, et al. Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am J Med Genet 1998;75:216-9.
10. Gershoni-Baruch R, Brik R, Lidar M, Shinawi M, Livneh A. Male sex coupled with articular manifestations cause a 4-fold increase in susceptibility to amyloidosis in patients with familial Mediterranean fever homozygous for the M694V-MEFV mutation. J Rheumatol 2003;30:308-12.
11. Cazeneuve C, Ajrapetyan H, Papin S, Roudot-Thoraval F, Geneviève D, Mndjoyan E, et al. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am J Hum Genet 2000;67:1136-43.
12. Touitou I, Picot MC, Domingo C, Notarnicola C, Cattan D, Demaille J, et al. The MICA region determines the first modifier locus in familial Mediterranean fever. Arthritis Rheum 2001;44:163-9.
13. Pras M, Bronshpigel N, Zemer D, Gafni J. Variable incidence of amyloidosis in familial Mediterranean fever among different ethnic groups. Johns Hopkins Med J 1982;150:22-6.
14. Shohat M, Magal N, Shohat T, Chen X, Dagan T, Mimouni A, et al. Phenotype-genotype correlation in familial Mediterranean fever: evidence for an association between Met694Val and amyloidosis. Eur J Hum Genet 1999;7:287-92.
15. Livneh A, Langevitz P, Shinar Y, Zaks N, Kastner DL, Pras M, et al. MEFV mutation analysis in patients suffering from amyloidosis of familial Mediterranean fever. Amyloid 1999;6:1-6.
16. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997;40:1879-85.
17. Sohar E, Gafni G, Pras M. Tel Hashomer key to severity score for FMF. In: Sohar E, Gafni G, Pras M, editors. Proceedings of the First International Conference of FMF. London, Tel Aviv: Freund Publishing House; 1997;208.
18. Ozkaya N, Yalçinkaya F. Colchicine treatment in children with familial Mediterranean fever. Clin Rheumatol 2003;22:314-7.
19. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
20. Moutereau S, Narwa R, Matheron C, Vongmay N, Simon E, Goossens M. An improved electronic microarray-based diagnostic assay for identification of MEFV mutations. Hum Mutat 2004;23:621-8.
21. Kone Paut I, Dubuc M, Sportouch J, Minodier P, Garnier JM, Touitou I. Phenotype-genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features. Rheumatology 2000;39:1275-9.
22. Livneh A, Langevitz P, Zemer D, Padeh S, Migdal A, Sohar E, et al. The changing face of familial Mediterranean fever. Semin Arthritis Rheum 1996;26:612-27.
23. Cerquaglia C, Diaco M, Nucera G, La Regina M, Montalto M, Manna R. Pharmacological and clinical basis of treatment of familial Mediterranean fever (FMF) with colchicine or analogues: an update. Curr Drug Targets Inflamm Allergy 2005;4:117-24.
24. Ben-Chetrit E, Levy M. Colchicine: 1998 update. Semin Arthritis Rheum 1998;28:48-59.
25. Lidar M, Scherrmann JM, Shinar Y, Chetrit A, Niel E, Gershoni-Baruch R, et al. Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization. Semin Arthritis Rheum 2004;33:273-82.
26. Klimecki WT, Futscher BW, Grogan TM, Dalton WS. P-glycoprotein expression and function in circulating blood cells from normal volunteers. Blood 1994;83:2451-8.
27. Touitou I, Sarkisian T, Medlej-Hashim M, Tunca M, Livneh A, Cattan D, et al. Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum 2007;56:1706-12.
28. Ozen S, Aktay N, Lainka E, Duzova A, Bakkaloglu A, Kallinich T. Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease. Ann Rheum Dis 2009;68:246-8.
29. Gershoni-Baruch R, Brik R, Zacks N, Shinawi M, Lidar M, Livneh A. The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum 2003;48:1149-55.
30. Medlej-Hashim M, Delague V, Chouery E, Salem N, Rawashdeh M, Lefranc G, et al. Amyloidosis in familial Mediterranean fever patients: correlation with MEFV genotype and SAA1 and MICA polymorphisms effects. BMC Med Genet 2004;5:4.
31. Aksentijevich I, Torosyan Y, Samuels J, Centola M, Pras E, Chae JJ, et al. Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet 1999;64:949-62.
32. Dusunsel R, Dursun I, Gündüz Z, Poyrazoglu MH, Gürgöze MK, Dundar M. Genotype-phenotype correlation in children with familial Mediterranean fever in a Turkish population. Pediatr Int 2008;50:208-12.
33. Delibas A, Oner A, Balci B, Demircin G, Bulbul M, Bek K, et al. Genetic risk factors of amyloidogenesis in familial Mediterranean fever. Am J Nephrol 2005;25:434-40.
34. Yilmaz E, Balci B, Kutlay S, Ozen S, Ertürk S, Oner A, et al. Analysis of the modifying effects of SAA1, SAA2 and TNF-alpha gene polymorphisms on development of amyloidosis in FMF patients. Turk J Pediatr 2003;45:198-202.
35. Yalçinkaya F, Cakar N, Misirlioglu M, Tümer N, Akar N, Tekin M, et al. Genotype-phenotype correlation in a large group of Turkish patients with familial Mediterranean fever: evidence for mutation-independent amyloidosis. Rheumatology 2000;39:67-72.
36. Tekin M, Yalçinkaya F, Cakar N, Akar N, Misirlioglu M, Tastan H, et al. MEFV mutations in multiplex families with familial Mediterranean fever: is a particular genotype necessary for amyloidosis? Clin Genet 2000;57:430-4.
37. Saatçi U, Ozen S, Ozdemir S, Bakkaloglu A, Besbas N, Topaloglu R, et al. Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis. Eur J Pediatr 1997;156:619-23.
38. Cefle A, Kamali S, Sayarlioglu M, Inanc M, Ocal L, Aral O, et al. A comparison of clinical findings of familial Mediterranean fever patients with and without amyloidosis. Rheumatol Int 2005;25:442-6.
39. Ertekin V, Selimoglu MA, Pirim I. Familial Mediterranean fever in a childhood population in eastern Turkey. Pediatr Int 2005;47:640-4.
40. Pasa S, Altintas A, Devecioglu B, Cil T, Danis R, Isi H, et al. Familial Mediterranean fever gene mutations in the Southeastern region of Turkey and their phenotypical features. Amyloid 2008;15:49-53.
41. Sayarlioglu M, Cefle A, Inanc M, Kamali S, Dalkilic E, Gul A, et al. Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases. Int J Clin Pract 2005;59:202-5.
42. Rawashdeh MO, Majeed HA. Familial Mediterranean fever in Arab children: the high prevalence and gene frequency. Eur J Pediatr 1996;155:540-4.
43. Grateau G, Pêcheux C, Cazeneuve C, Cattan D, Dervichian M, Goossens M, et al. Clinical versus genetic diagnosis of familial Mediterranean fever. QJM 2000;93:223-9.
44. Milhavet F, Cuisset L, Hoffman HM, Slim R, El-Shanti H, Aksentijevich I, et al. The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat 2008;29:803-8.
45. Touitou I. The spectrum of familial Mediterranean fever (FMF) mutations. Eur J Hum Genet 2001;9:473-83.
46. Ben-Chetrit E, Lerer I, Malamud E, Domingo C, Abeliovich D. The E148Q mutation in the MEFV gene: is it a disease-causing mutation or a sequence variant? Hum Mutat 2000;15:385-6.
47. Topaloglu R, Ozaltin F, Yilmaz E, Ozen S, Balci B, Besbas N, et al. E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever. Ann Rheum Dis 2005;64:750-2.
48. Ozgocmen S, Ozçakar L, Ardicoglu O, Kocakoc E, Kaya A, Kiris A. Familial Mediterranean fever responds well to infliximab: single case experience. Clin Rheumatol 2006;25:83-7.
49. Calligaris L, Marchetti F, Tommasini A, Ventura A. The efficacy of anakinra in an adolescent with colchicine-resistant familial Mediterranean fever. Eur J Pediatr 2008;167:695-6.
50. Onat AM, Oztürk MA, Ozçakar L, Ureten K, Kaymak SU, Kiraz S, et al. Selective serotonin reuptake inhibitors reduce the attack frequency in familial Mediterranean fever. Tohoku J Exp Med 2007;211:9-14.