A case of familial Mediterranean fever with amyloidosis as the first manifestation

Kutlay S., Yilmaz E., Koytak E., Tulunay O., KEVEN K., Ozcan M., ...Daha Fazla

AMERICAN JOURNAL OF KIDNEY DISEASES, cilt.38, sa.6, 2001 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 6
  • Basım Tarihi: 2001
  • Doi Numarası: 10.1053/ajkd.2001.29290
  • Dergi Adı: AMERICAN JOURNAL OF KIDNEY DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: acute myelocytic leukemia, amyloidosis, familial Mediterranean fever (FMF)-Phenotype II, M694V mutation, nephrotic syndrome, PHENOTYPE-GENOTYPE CORRELATION, MEFV, GENE
  • Ankara Üniversitesi Adresli: Evet

Özet

We describe a 22-year-old Turkish woman with nephrotic syndrome who had a history of acute myelocytic leukemia. After careful clinical evaluation, the patient underwent a renal biopsy. Light microscopic examination showed deposition of Congo-positive material both In the mesangium and around the small vessels. By histochemical analyses, the deposited material was proved to be amyloid A (AA). Because the patient's history did not reveal any event that might explain the development of secondary amyloidosis, she was screened for mutations causing familial Mediterranean fever (FMF) and was found to be homozygous for the M694V mutation by denaturing gradient gel electrophoresis. We recommend that FMF-Phenotype If and the development of amyloid nephropathy, before or without other symptoms of FMF, should be kept In mind in the face of unexplained proteinuria/amyloidosis, especially In high-risk ethnic groups. (C) 2001 by the National Kidney Foundation, Inc.