Extended report
Amyloidosis induced, end stage renal disease in patients with
familial Mediterranean fever is highly associated with point mutations
in the MEFV gene
E Ben-Chetrita, R Backenrothb
a Rheumatology Unit,
Department of Medicine, Hadassah University Hospital, Jerusalem, Israel, b Department of Nephrology
and Hypertension, Hadassah University Hospital, Jerusalem, Israel
Correspondence to: Dr E Ben-Chetrit, FMF Clinic, Department of Medicine, Hadassah University Hospital, PO Box 12000, 91120 Jerusalem, Israel eldad{at}hadassah.org.il
Accepted for publication 16 June 2000
BACKGROUND
Familial
Mediterranean fever (FMF) is an autosomal recessive disease
characterised by recurrent attacks of fever and serositis. Amyloidosis
is the most significant complication of FMF, leading to end stage renal
disease (ESRD). Recently the gene (MEFV) causing this disease was
cloned and more than 18 mutations have been identified. The hypothesis
that the development of amyloidosis is associated with one of these
mutations was tested.
METHODS23 patients
with FMF and ESRD were analysed for their MEFV mutations and correlated
with their corresponding rectal and renal biopsies. As case controls 23 patients with FMF free of renal disease, but with similar origin, sex,
age, and age at onset of FMF, were chosen.
RESULTSAll the
patients with ESRD induced by amyloidosis were homozygous for the M694V
or M694I mutations. This finding was significantly different from that
seen in the control group.
CONCLUSIONSAmyloidosis
is highly associated with the 694 substitution in the MEFV gene causing
FMF. It seems that genetic predisposition plays a part in the
development of this complication of FMF.
© 2001 by Annals of the Rheumatic Diseases
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