TY - JOUR
T1 - Nephrotic syndrome as a first manifestation of Familial Mediterranean Fever
AU - Gingold-Belfer, Rachel
AU - Bergman, Michael
AU - Ori, Yaacov
AU - Salman, Hertzel
PY - 2006/10
Y1 - 2006/10
N2 - 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.
AB - 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.
KW - Amyloidosis
KW - Familial Mediterranean Fever
KW - Nephrotic syndrome
KW - Phenotype
KW - Renal manifestation
UR - http://www.scopus.com/inward/record.url?scp=33947223635&partnerID=8YFLogxK
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AN - SCOPUS:33947223635
SN - 0017-7768
VL - 145
SP - 706-708+784
JO - Harefuah
JF - Harefuah
IS - 10
ER -