Nephrotic syndrome as a first manifestation of Familial Mediterranean Fever

Rachel Gingold-Belfer*, Michael Bergman, Yaacov Ori, Hertzel Salman

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

AA amyloidosis may be a complication of Familial Mediterranean Fever (FMF). This is a case history of a female patient who did not have the classic symptoms of FMF, which usually precede the renal manifestation. The patient was admitted with edema of both legs, and the nephrotic syndrome was discovered, leading to the diagnosis of AA amyloidosis on kidney biopsy. Genetic testing uncovered the homozygous M694V type mutation, the most common mutation of FMF, which renders the patients prone to amyloidosis. This case represents the phenotype II of FMF, which presents with amyloidosis without prior classic attacks of FMF. Since effective prevention of the development of amyloidosis is available, genetic testing should be considered in order to identify mutations which carry high risk for the development of amyloidosis. This is also relevant in asymptomatic individuals with family history of FMF.

Original languageEnglish
Pages (from-to)706-708+784
JournalHarefuah
Volume145
Issue number10
StatePublished - Oct 2006

Keywords

  • Amyloidosis
  • Familial Mediterranean Fever
  • Nephrotic syndrome
  • Phenotype
  • Renal manifestation

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