Abstract
Familial Mediterranean fever (FMF) is an autosomal recessive hereditary disease characterized by recurrent attacks of fever, usually accompanied by sterile polyserositis. Although amyloidosis is the most common renal involvement, non-amyloid renal lesions, such as glomerulonephritis, have been described in patients with FMF. In this report, we present the first case of an FMF patient with heterozygous mutation of E148Q, mesangial proliferative glomerulonephritis, and no amyloidosis. While the association of mutation E148Q with renal involvement is still obscure, colchicine treatment is useful in mesangial proliferative glomerulonephritis with FMF.
References
Ben-Chetrit E, Levy M (1998) Familial Mediterranean fever. Lancet 28:659–664
El-Shanti HI (2003) Familial Mediterranean fever and renal disease. Saudi J Kidney Dis Transpl 14:378–385
Flatau E, Kohn D, Schiller D, Lurie M, Levy E (1982) Schönlein-Henoch syndrome in patients with familial Mediterranean fever. Arthritis Rheum 25:42–47
Ozen S, Ben-Chetrit E, Bakkaloglu A, Gur H, Tinaztepe K, Calguneri M, Turgan C, Turkmen A, Akpolat I, Danaci M, Besbas N, Akpolat T (2001) Polyarteritis nodosa in patients with familial Mediterranean fever(FMF):a concomitant disease or a feature of FMF? Semin Arthritis Rheum 30:281–287
Eliakim M, Rachmilewitz W, Rosenmann R (1970) Renal manifestation in recurrent polyserositis (familial Mediterranean fever). Isr J Med Sci 6:228–245
Said R, Nasrallah N, Hamzeh Y, Tarawneh M, Al-Khateeb M (1988) Ig A nephropathy in patients with familial Mediterranean fever. Am J Nephrol 8:417–420
Said R, Hamzeh Y, Tarawneh M, el-Khateeb M, Abdeen M, Shaheen A (1989) Rapid progressive glomerulonephritis in patients with familial Mediterranean fever. Am J Kidney Dis 14:412–416
Said R, Hamzeh Y, Said S, Tarawneh M, Al-Khateeb M (1992) Spectrum of renal involvement in familial Mediterranean fever. Kidney Int 41:414–419
Said R, Hamzeh Y (1990) IgM nephropathy associated with familial Mediterranean fever. Clin Nephrol 33(5):227–231
Tekin M, Yalçinkaya F, Tümer N, Cakar N, Koçak H, Ozkaya N, Gençgönül H (1999) Familial Mediterranean fever-renal involvement by diseases other than amyloid. Nephrol Dial Transplant 14(2):475–479
Akpolat T, Akpolat I, Karagoz F, Yilmaz E, Kandemir B, Ozen S (2004) Familial Mediterranean fever and glomerulonephritis and review of the literature. Rheumatol Int 24:43–45
Yalcinkaya F, Tumer N (1999) Glomerular lesions other than amyloidosis in patients with familial Mediterranean fever. Nephrol Dial Transplant 14:21–23
Cagdas DN, Gucer S, Kale G, Duzova A, Ozen S (2005) Familial Mediterranean fever and mesangial proliferative glomerulonephritis: report of a case and review of the literature. Pediatr Nephrol 20(9):1352–1354
Shohat M, Halpern GJ (2011) Familial Mediterranean fever-a review. Genet Med 13(6):487–498
Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C, Kingma DW, Hortwiz ME, Mansfield E, Holland SM, O’Shea JJ, Rosenberg HF, Malech HL, Kastner DL (2000) The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. Blood 95:3223–3231
Babior BM, Matzner Y (1997) The familial Mediterranean fever gene-cloned at last. N Engl J Med 20(337):1548–1549
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
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
Naimushin A, Lidar M, Ben Zvi I, Livneh A (2011) The structural effect of the E148Q MEFV mutation on the pyrin protein: a study using a quantum chemistry model. Isr Med Assoc J 13:199–201
Ozen S (2004) Renal amyloidosis in familial Mediterranean fever. Kidney Int 65:1118–1127
Westermark P, Benson MD, Buxbaum JN et al (2007) A primer of amyloid nomenclature. Amyloid 14(3):179–183
Picken MM (2007) New ınsights into systemic amyloidosis: the importance of type diagnosis. Curr Opin Nephrol Hypertens 16(3):196–203
Dember LM (2006) Amyloidosis-associated kidney disease. J Am Soc Nephrol 17(12):3458–3471
Fernandez-Flores A (2010) Comparative study of Congo red fluorescence and immunohistochemistry in cutaneous amyloidosis. Rom J Morphol Embryol 51(4):683–686
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Eroglu, E., Kocyigit, I., Ates, O. et al. Mesangial proliferative glomerulonephritis in familial Mediterranean fever patient with E148Q mutation: the first case report. Int Urol Nephrol 45, 591–594 (2013). https://doi.org/10.1007/s11255-012-0124-1
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DOI: https://doi.org/10.1007/s11255-012-0124-1