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Nephrotic Syndrome - MEFV Associated

MedGen UID:
888692
•Concept ID:
C4054377
•
Disease or Syndrome

Definition

Nephrotic syndrome attributed to mutation(s) in the MEFV gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNephrotic Syndrome - MEFV Associated

Recent clinical studies

Etiology

Predictors of AA amyloidosis in familial Mediterranean fever.
Mukhin NA, Kozlovskaya LV, Bogdanova MV, Rameev VV, Moiseev SV, Simonyan AKh
Rheumatol Int 2015 Jul;35(7):1257-61. Epub 2015 Jan 14 doi: 10.1007/s00296-014-3205-x. PMID: 25586652
Phenotype 2 familial mediterranean fever: evaluation of 22 case series and review of the literature on phenotype 2 FMF.
Altunoğlu A, Erten Ş, Canoz MB, Yuksel A, Ceylan GG, Balci S, Dogan HT
Ren Fail 2013;35(2):226-30. Epub 2012 Dec 11 doi: 10.3109/0886022X.2012.745115. PMID: 23228227
Familial Mediterranean fever, inflammation and nephrotic syndrome: fibrillary glomerulopathy and the M680I missense mutation.
Fisher PW, Ho LT, Goldschmidt R, Semerdjian RJ, Rutecki GW
BMC Nephrol 2003 Aug 11;4:6. doi: 10.1186/1471-2369-4-6. PMID: 12908875Free PMC Article

Diagnosis

Renal involvement in familial Mediterranean fever in an Algerian population.
Khellaf G, Benziane A, Kaci L, Ait-Idir D, Missoum S, Benabadji M
Clin Nephrol 2023 Apr;99(4):172-179. doi: 10.5414/CN110930. PMID: 36734158
Predictors of AA amyloidosis in familial Mediterranean fever.
Mukhin NA, Kozlovskaya LV, Bogdanova MV, Rameev VV, Moiseev SV, Simonyan AKh
Rheumatol Int 2015 Jul;35(7):1257-61. Epub 2015 Jan 14 doi: 10.1007/s00296-014-3205-x. PMID: 25586652
Phenotype 2 familial mediterranean fever: evaluation of 22 case series and review of the literature on phenotype 2 FMF.
Altunoğlu A, Erten Ş, Canoz MB, Yuksel A, Ceylan GG, Balci S, Dogan HT
Ren Fail 2013;35(2):226-30. Epub 2012 Dec 11 doi: 10.3109/0886022X.2012.745115. PMID: 23228227
Familial Mediterranean fever, inflammation and nephrotic syndrome: fibrillary glomerulopathy and the M680I missense mutation.
Fisher PW, Ho LT, Goldschmidt R, Semerdjian RJ, Rutecki GW
BMC Nephrol 2003 Aug 11;4:6. doi: 10.1186/1471-2369-4-6. PMID: 12908875Free PMC Article
Familial Mediterranean fever (FMF)-associated amyloidosis in childhood. Clinical features, course and outcome.
Cakar N, Yalçinkaya F, Ozkaya N, Tekin M, Akar N, Koçak H, Misirlioğlu M, Akar E, Tümer N
Clin Exp Rheumatol 2001 Sep-Oct;19(5 Suppl 24):S63-7. PMID: 11760404

Therapy

Living kidney transplantation between brothers with unrecognized renal amyloidosis as the first manifestation of familial Mediterranean fever: a case report.
Peces R, Afonso S, Peces C, Nevado J, Selgas R
BMC Med Genet 2017 Aug 31;18(1):97. doi: 10.1186/s12881-017-0457-9. PMID: 28859624Free PMC Article
Autosomal dominant familial Mediterranean fever in Northern European Caucasians associated with deletion of p.M694 residue-a case series and genetic exploration.
Rowczenio DM, Iancu DS, Trojer H, Gilbertson JA, Gillmore JD, Wechalekar AD, Tekman M, Stanescu HC, Kleta R, Lane T, Hawkins PN, Lachmann HJ
Rheumatology (Oxford) 2017 Feb;56(2):209-213. Epub 2016 May 5 doi: 10.1093/rheumatology/kew058. PMID: 27150194

Prognosis

Predictors of AA amyloidosis in familial Mediterranean fever.
Mukhin NA, Kozlovskaya LV, Bogdanova MV, Rameev VV, Moiseev SV, Simonyan AKh
Rheumatol Int 2015 Jul;35(7):1257-61. Epub 2015 Jan 14 doi: 10.1007/s00296-014-3205-x. PMID: 25586652
Phenotype 2 familial mediterranean fever: evaluation of 22 case series and review of the literature on phenotype 2 FMF.
Altunoğlu A, Erten Ş, Canoz MB, Yuksel A, Ceylan GG, Balci S, Dogan HT
Ren Fail 2013;35(2):226-30. Epub 2012 Dec 11 doi: 10.3109/0886022X.2012.745115. PMID: 23228227
Familial Mediterranean fever (FMF)-associated amyloidosis in childhood. Clinical features, course and outcome.
Cakar N, Yalçinkaya F, Ozkaya N, Tekin M, Akar N, Koçak H, Misirlioğlu M, Akar E, Tümer N
Clin Exp Rheumatol 2001 Sep-Oct;19(5 Suppl 24):S63-7. PMID: 11760404

Clinical prediction guides

Predictors of AA amyloidosis in familial Mediterranean fever.
Mukhin NA, Kozlovskaya LV, Bogdanova MV, Rameev VV, Moiseev SV, Simonyan AKh
Rheumatol Int 2015 Jul;35(7):1257-61. Epub 2015 Jan 14 doi: 10.1007/s00296-014-3205-x. PMID: 25586652
Familial Mediterranean fever (FMF)-associated amyloidosis in childhood. Clinical features, course and outcome.
Cakar N, Yalçinkaya F, Ozkaya N, Tekin M, Akar N, Koçak H, Misirlioğlu M, Akar E, Tümer N
Clin Exp Rheumatol 2001 Sep-Oct;19(5 Suppl 24):S63-7. PMID: 11760404

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