Familial Mediterranean fever and systemic amyloidosis in untreated Turkish patients

We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. No...

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Bibliographic Details
Published in:QJM : An International Journal of Medicine 2000-10, Vol.93 (10), p.681-684
Main Authors: Yalçinkaya, F., Tekİn, M., Çakar, N., Akar, E., Akar, N., Tümer, N.
Format: Article
Language:English
Subjects:
Adult
Age of Onset
Aged
Amyloidosis
Amyloidosis - etiology
Amyloidosis - genetics
Biological and medical sciences
Case-Control Studies
Colchicine - therapeutic use
Consanguinity
Diseases of the osteoarticular system
Familial Mediterranean Fever - complications
Familial Mediterranean Fever - genetics
Female
Genes, Recessive
Genotype
Gout Suppressants - therapeutic use
Humans
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Metabolic diseases
Middle Aged
Mutation - genetics
Other metabolic disorders
Phenotype
Polymerase Chain Reaction
Turkey - ethnology
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Summary:We compared the frequencies of seven MEFV mutations (M694V, M680I, V726A, M694I, K695R, R761H, E148Q) and the clinical findings in 20 Turkish FMF patients who had not developed amyloidosis by the age of 40 years in the absence of colchicine therapy, with those in 27 Turkish amyloidosis patients. No mutation frequency, including that of M694V, was different between the two groups. Family history of amyloidosis and parental consanguinity were noted to be higher in the amyloidosis group. The seven mutations do not appear to be sufficient to explain the development of amyloidosis in Turkish FMF patients. Other genetic factors may be important for this association.
ISSN:1460-2725
1460-2393
DOI:10.1093/qjmed/93.10.681