Familial Mediterranean fever in a childhood population in eastern Turkey

Ertekin, Vildan; Selimoğlu, Mukadder Ayşe; Pirim, İbrahim

doi:10.1111/j.1442-200x.2005.02140.x

Cited by 51 publications

(39 citation statements)

References 23 publications

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“…In other studies, the prevalence of M694V mutation was reported as 48%, 71.3% and 74.3%, respectively (Yilmaz et al 2001;Ertekin et al 2005;Inal et al 2008). Phenotype and genotype correlation in FMF has not been explained definitely, but an increased risk of amyloidosis among M694V homozygotes was reported (Paut et al 2000;Yilmaz et al 2003;Dusunsel et al 2008).…”

Section: Discussionmentioning

confidence: 97%

Increased Serum Osteoprotegerin Levels Associated with Decreased Bone Mineral Density in Familial Mediterranean Fever

Yüksel

Şamlı

Çölbay

et al. 2009

Tohoku J. Exp. Med.

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Section: Discussionmentioning

confidence: 97%

Increased Serum Osteoprotegerin Levels Associated with Decreased Bone Mineral Density in Familial Mediterranean Fever

Yüksel

Şamlı

Çölbay

et al. 2009

Tohoku J. Exp. Med.

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“…A large part of these manifestations may be directly related to FMF, its complications, associated diseases, and treatment adverse effects. 3 Ertekin et al 10 described seizures in two of 52 children with FMF. While one of the patients with seizures had electroencephalography abnormality, the other was considered as simple febrile convulsion.…”

Section: Discussionmentioning

confidence: 99%

Pseudotumor Cerebri in a Child With Familial Mediterranean Fever

İncecik¹

2015

Arch Rheumatol

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“…Our series (FMF cases in renal waiting list) at this moment is not large, so it is difficult to make evaluation between genotype of patients and amyloidosis. There is regional study performed on pediatric group reported that M694V mutation is the most common one [10].…”

Section: Discussionmentioning

confidence: 99%

The Frequency of Familial Mediterranean Fever Related Amyloidosis in Renal Waiting List for Transplantation

Keleş

Eyerci

Uyanik

et al. 2010

EAJM

Self Cite

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Objective: Our goal is to investigate the distribution of MEFV mutations in patients with renal amyloidosis who are in renal transplant waiting list which is prepared for transplantation. Materials and Methods:FMF was diagnosed in 25 of the 297 patients between the years 2004 and 2008, who were involved in the study (15 male, 10 female; age 34±7.8). 5 out of 25 patients were transplanted, remaining were waiting for Tx. Biopsy results were amyloidosis and taken from renal (n:16), rectal (n:8) and duodenal (1).All of them were carrier of mutations in both pyrin alleles.The primer cause of chronic renal failure in our group was secondary AA amyloidosis. DNA was isolated from 25 whole blood samples. The NanoChip Molecular Biology Workstation (Nanogen) uses electronic microarrays for mutation detection. Exon 2,3,5 and 10 of pyrin gene genotypes were identifi ed in the NanoChip. Results:Genetic analysis of the patients demonstrated that each subject carries either homozygote or compound heterozygote mutations of the gene. The most common mutations were M694V, V726A, E148Q and M680I. Conclusions:The clinic manifestation and complain of our patients were febrile and painful attacks such as in the abdomen, chest and joints due to infl ammation of the peritoneum, pleura and synovial membrane. The major problem in FMF is the occurrence of amyloidosis that primarily aff ects the kidneys causing proteinuria and renal failure. Dialysis and renal transplantation can be treatment, but it is important to diagnose FMF at earliest stages. The percentage of FMF patients in our waiting list was 8.4%. Moreover, in our region FMF incidence is highly frequent, so FMF should be chased by genetically so as to prevent chronic renal failure due to amyloidosis. Sonuç: AAA'nin yaygın olduğu bir bölgede bulunduğumuz dikkate alındığın-da, diyaliz ve böbrek nakli tedavi secenekleri olmasına rağmen AAA'nin erken teşhisi ve tedavisi önem arz etmektedir. Pyrin genindeki mutasyonlar ile amiloidoz güçlü bir ilişki göstermektedir.

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Familial Mediterranean fever in a childhood population in eastern Turkey

Abstract: It was noted that the FMF patients in this study had a broad spectrum of mutation combination, which might reflect the intercultural interactions of ancient ethnic groups that lived in Anatolia, and these mutations were not significantly different in respect to clinical presentations.

Cited by 51 publications

References 23 publications

Increased Serum Osteoprotegerin Levels Associated with Decreased Bone Mineral Density in Familial Mediterranean Fever

Increased Serum Osteoprotegerin Levels Associated with Decreased Bone Mineral Density in Familial Mediterranean Fever

Pseudotumor Cerebri in a Child With Familial Mediterranean Fever

The Frequency of Familial Mediterranean Fever Related Amyloidosis in Renal Waiting List for Transplantation

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