[Nephrotic syndrome as a first manifestation of familial Mediterranean fever].
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.
Gingold-Belfer
Rachel
R
Department of Internal Medicine C, Campus Golda-Hasharon, Rabin Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Israel.
Bergman
Michael
M
Ori
Yaacov
Y
Salman
Hertzel
H
D001706:Biopsy; D010505:Familial Mediterranean Fever / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007668:Kidney / Q000473:pathology; D008875:Middle Aged; D009404:Nephrotic Syndrome / Q000209:etiology* / Q000473:pathology