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The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever.
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OBJECTIVE
The clinical profile in familial Mediterranean fever (FMF), including its major manifestation, amyloidosis, is influenced by MEFV allelic heterogeneity and other genetic and/or environmental factors. In this study, we analyzed the contribution of genotypes at the MEFV and SAA1 loci to
The relation between familial Mediterranean fever and amyloidosis.
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Familial Mediterranean fever (FMF) is the most prevalent type of hereditary recurrent fever. Although the inflammatory attacks that characterize the disease may sometimes be debilitating, reactive amyloidosis remains the most serious manifestation of FMF. Daily treatment with colchicine can prevent
Familial Mediterranean fever (FMF)-associated amyloidosis in childhood. Clinical features, course and outcome.
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OBJECTIVE
Familial Mediterranean fever (FMF) is an autosomal recessive disorder of childhood characterized by attacks of fever and serositis. Renal amyloidosis is the most important complication of the disease that determines the prognosis.
METHODS
Forty-eight Turkish FMF patients with amyloidosis
A comparison of clinical findings of familial Mediterranean fever patients with and without amyloidosis.
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OBJECTIVE
This study investigates the clinical and demographic characteristics of familial Mediterranean fever (FMF) patients with and without amyloidosis.
METHODS
The clinical data of 503 patients with FMF (females:males 250:253) were reviewed. Fifty of these patients had amyloidosis (f:m
Efficacy of colchicine therapy in amyloid nephropathy of familial Mediterranean fever.
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The aim of this study was to investigate the effect of colchicine therapy on the outcome of amyloid nephropathy of familial Mediterranean fever (FMF) in childhood. The diagnosis of amyloidosis type AA was confirmed by renal biopsy in 38 patients. During a mean follow-up period of 30.5 months (range
AA amyloidosis complicating the hereditary periodic fever syndromes.
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OBJECTIVE
AA amyloidosis is a life-threatening complication of the hereditary periodic fever syndromes (HPFS), which are otherwise often compatible with normal life expectancy. This study was undertaken to determine the characteristics, presentation, natural history, and response to treatment in 46
Polyglandular endocrine failure in a patient with amyloidosis secondary to familial Mediterranean fever.
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Familial Mediterranean fever (FMF) is 1 of the major causes of secondary amyloidosis. Renal involvement is the main clinical complication and it mostly presents with nephrotic syndrome and chronic renal failure. Although deposition of amyloid has been reported in several endocrine glands such as the
Isolated adrenal mineralocorticoid deficiency due to amyloidosis associated with familial Mediterranean fever.
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A patient with familial Mediterranean fever (FMF) associated with renal amyloidosis, presented with hyperkalemia and acidosis which were excessive to his moderate degree of azotemia. The cause of this abnormality was isolated hypoaldosteronism with otherwise normal adrenal function and tubular
Exclusion of linkage between familial Mediterranean fever and the human serum amyloid A (SAA) gene cluster.
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We studied the relationship between the autosomal recessive trait familial Mediterranean fever (FMF) and the serum amyloid A (SAA) genes by comparing alleles of a highly polymorphic dinucleotide repeat and a conventional restriction fragment length polymorphism (RFLP) in the SAA gene cluster in
Anaesthesia for caesarean section in a patient with systemic amyloidosis secondary to familial Mediterranean fever.
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The anaesthetic management of a 33-year-old primigravid woman at 29 + 5 weeks' gestation with familial Mediterranean fever (FMF), secondary amyloidosis, renal allograft with deteriorating renal function and cardiac impairment for emergency caesarean section is described. Pathophysiology and
"Periodic fever" without fever: two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptomatic amyloidosis.
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BACKGROUND
Tumour necrosis factor (TNF) receptor associated periodic syndrome (TRAPS) is caused by dominant mutations in the TNFRSF1A gene. In typical cases TRAPS begins early in childhood and is characterised by high and remittent fever over a period of 1-4 weeks or longer, accompanied by systemic
Serum amyloid A1 genotype associates with adult-onset familial Mediterranean fever in patients homozygous for mutation M694V
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Objectives: FMF shows considerable variability in severity and type of clinical manifestations by geographic region, which are attributed to Mediterranean fever (MEFV) gene allelic heterogeneity, additional genetic modifiers and
Ankylosing spondylitis. An unusual manifestation of familial Mediterranean fever. Report of a case complicated by amyloidosis and polyneuropathy.
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We report a case of familial Mediterranean fever (FMF) with typical clinical and roentgenological findings of ankylosing spondylitis. The spinal involvement in FMF is discussed. A second unusual feature of this case is the occurrence of polyneuropathy which could possibly be ascribed to the slowly
An unusual presentation of familial Mediterranean fever with prolonged hip pain and amyloidosis.
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Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent self-limiting attacks of joint, chest and abdominal associated with fever. We present an unusual case of FMF with prolonged arthritis and amyloidosis. Familial Mediterranean fever should be considered in
The contribution of genotypes at the MICA gene triplet repeat polymorphisms and MEFV mutations to amyloidosis and course of the disease in the patients with familial Mediterranean fever.
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OBJECTIVE
To evaluate the effects of MEFV genotypes and the major histocompatibility complex class I chain-related gene A (MICA) triplet repeat polymorphism on the severity and clinical features of familial Mediterranean fever (FMF) and amyloidosis in a group of Turkish FMF patients.
METHODS
We
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