MEFV gene mutations in familial Mediterranean fever phenotype II patients with renal amyloidosis in childhood: a retrospective clinicopathological and molecular study.

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Atıf İçin Kopyala

Balci B., Tinaztepe K., Yilmaz E., Gucer S., Ozen S., Topaloglu R., ...Daha Fazla

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, cilt.17, sa.11, ss.1921-3, 2002 (SCI-Expanded)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 17 Sayı: 11
• Basım Tarihi: 2002
• Doi Numarası: 10.1093/ndt/17.11.1921
• Dergi Adı: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
• Sayfa Sayıları: ss.1921-3
• Anahtar Kelimeler: amyloidosis, childhood, familial Mediterranean fever, MEFV gene, phenotype II, CARRIER, FREQUENCY, PYRIN, FMF
• Hacettepe Üniversitesi Adresli: Evet

Özet

Background. Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring attacks of fever and serositis. The definition of the mutated gene has allowed molecular diagnosis of the disease. The most important complication of FMF is the development of AA type secondary amyloidosis. In a group of patients clinically designated as phenotype 11 amyloidosis patients, renal amyloidosis develops without being preceded by typical attacks of the disease. In this study, the mutations of the MEFV gene were analysed in a group of patients clinically recognized as phenotype II.