Case report

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

Patrick W Fisher¹ , L Tammy Ho² , Robert Goldschmidt³ , Ronald J Semerdjian⁴ and Gregory W Rutecki⁵

¹Department of Medicine, Department of Graduate Medical Education, Northwestern University Feinberg School of Medicine, Evanston Northwestern Healthcare, Evanston, IL, USA

²Department of Medicine, Division of Nephrology, Northwestern University Feinberg School of Medicine, Evanston Northwestern Healthcare, Evanston, IL, USA

³Department of Pathology, Northwestern University Feinberg School of Medicine, Evanston Northwestern Healthcare, Evanston, IL, USA

⁴Department of Medicine, Division of Pulmonary Diseases, Northwestern University Feinberg School of Medicine, Evanston Northwestern Healthcare, Evanston, IL, USA

⁵Department of Medicine, Northwestern University Feinberg School of Medicine, Evanston Northwestern Healthcare, Evanston, IL, USA

author email corresponding author email

BMC Nephrology 2003, 4:6doi:10.1186/1471-2369-4-6

Published:	11 August 2003

Abstract

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 disease. Other known renal diseases in the FMF population include IgA nephropathy, IgM nephropathy, Henoch-Schönlein purpura as well as polyarteritis nodosa.

Conclusion

To our knowledge, this is the first association between FMF and the M680I mutation later complicated by nephrotic syndrome and fibrillary glomerulonephritis.