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Familial Mediterranean fever, Inflammation and Nephrotic Syndrome: Fibrillary Glomerulopathy and the M680I Missense Mutation by Patrick W Fisher; L Tammy Ho; Robert Goldschmidt; Ronald J Semerdjian; Gregory W Rutecki is a Medicine article available to read on EtoBox.

What is Familial Mediterranean fever, Inflammation and Nephrotic Syndrome: Fibrillary Glomerulopathy and the M680I Missense Mutation about?

## Background: Familial mediterranean fever (fmf) is an autosomal recessive disease characterized by inflammatory serositis (fever, peritonitis, synovitis and pleuritis). the gene locus responsible for fmf was identified in 1992 and localized to the short arm of chromosome 16. in 1997, a specific fmf gene locus, mefv, was discovered to encode for a protein, pyrin that mediates inflammation. to date, more than forty missense mutations are known to exist. the diversity of mutations identified has provided insight into the variability of clinical presentation and disease progression. ## Case report: We report an individual heterozygous for the m680i gene mutation with a clinical diagnosis of fmf using the tel-hashomer criteria. subsequently, the patient developed nephrotic syndrome with biopsy-confirmed fibrillary glomerulonephritis (fgn). further diagnostic studies were unremarkable with clinical workup negative for amyloidosis or other secondary causes of nephrotic syndrome. ## Discussion: Individuals with fmf are at greater risk for developing nephrotic syndrome. the most serious etiology is amyloidosis (aa variant) with renal involvement, ultimately progressing to end-stage renal

Who reads Familial Mediterranean fever, Inflammation and Nephrotic Syndrome: Fibrillary Glomerulopathy and the M680I Missense Mutation?

Author

Patrick W Fisher; L Tammy Ho; Robert Goldschmidt; Ronald J Semerdjian; Gregory W Rutecki

Publisher

BioMed Central; Springer (Biomed Central Ltd.); London: BioMed Central, 2000-; Springer Science and Business Media LLC; Society for Mining, Metallurgy and Exploration Inc. (ISSN 1471-2369)

Published

2003

Language

EN

Field

Medicine (Health Sciences)