Mutational Spectrum of the MEFV Gene in AA Amyloidosis Associated With Familial Mediterranean Fever

WOS: 000382833300002PubMed ID: 27225717Introduction. Familial Mediterranean fever (FMF) is a recessively inherited disease which is characterized by recurrent episodic fever, abdominal pain, and polyserositis. It is caused by mutations in the MEFV gene, encoding the pyrin protein. The most important complication of FMF is secondary (AA) amyloidosis that leads to kidney failure. This study aimed to identify the frequency and distribution of MEFV mutations in Turkish patients with FMF-associated AA amyloidosis. Materials and Methods. A total of 57 patients with FMF-associated AA amyloidosis and 60 healthy controls were included in this study. We analyzed the MEFV gene for E148Q, M694V, M680I, and V726A mutations and R202Q variant by polymerase chain reaction and restriction fragment length polymorphism methods. Results. The male-female ratio was 0.72. The mean age of the patients was 29.8 +/- 12.8 years. Among the patients, the rate of the MEFV mutations was found to be 77.2%. The most frequently observed genotype was homozygous M694V mutation, which was present in 17 patients (29.8%, P <.001), followed by compound heterozygous M680I/ M694V (14.3%, P =.01). The R202Q allele frequencies were significantly different between patients and control group (P =.02; odds ratio, 0.53; 95% confidence interval, 0.30 to 0.94). Conclusions. In this study, mutation analysis of MEFV gene confirmed that the most frequent mutation was homozygous M694V genotype. R202Q may be important in patients with FMF-associated AA amyloidosis. Thus, it is suggested that investigation of R202Q should be considered as a genetic test for Turkish FMF patients

Interleukin-1Ra rs2234663 and Interleukin-4 rs79071878 Polymorphisms in Familial Mediterranean Fever

WOS: 000372761300010PubMed ID: 26861613Objective: Familial Mediterranean Fever (FMF) is an autosomal recessively inherited auto inflammatory disorder. MEFV gene, causing FMF, encodes pyrin that is associated with the interleukin-1 (IL-1) related inflammation cascade. The aim of this study was to investigate the relationship of interleukin-1 receptor antagonist (IL-1Ra) and interleukin-4 (IL-4) polymorphisms with the risk of FMF in the Turkish population. Methods: This study included 160 patients with FMF (74 men, 86 women) and 120 healthy controls (50 men, 70 women), respectively. Genotyping of IL-1Ra rs2234663 polymorphism was evaluated by gel electrophoresis after polymerase chain reaction (PCR). The IL-4 rs79071878 polymorphism was determined by PCR-based restriction fragment length polymorphism (PCR-RFLP) analysis. The results of analyses were evaluated for statistical significance. Results: There was no significant difference in IL-1Ra genotype and allele distributions between FMF and the control groups (p > 0.05). However, a significant association was observed between FMF patients and control groups according to IL-4 genotype distribution (p = 0.016), but no association was found in the allelic frequency of IL-4 between FMF patients and the controls (p > 0.05, OR: 1.131, Cl 95%: 0.71-1.81). Conclusions: The IL-4 rs79071878 polymorphism, was associated whereas the IL-1Ra rs2234663 polymorphism was not associated with FMF risk in the Turkish population. Larger studies with different ethnicities are needed to determine the impact of IL-1Ra and IL-4 polymorphism on the risk of developing FMF. (C) 2016 Elsevier B.V. All rights reserved

Angiotensin Converting Enzyme Gene Insertion/Deletion Variant and Familial Mediterranean Fever-related Amyloidosis

WOS: 000435148300003PubMed ID: 29891744Introduction. The most important complication of familial Mediterranean fever (FMF) is secondary amyloidosis, which can lead to kidney failure. Genetic variability in the genes of various components of the renin-angiotensin system may play a role in the pathogenesis of the kidney disorders. The aim of the present study was to investigate the association between angiotensin converting enzyme (ACE) gene I/D variant and risk of developing FMF-related amyloidosis in Turkish patients. Materials and Methods. A total of 240 individuals consisting of 40 patients with FMF-related amyloidosis, 100 FMF patients without amyloidosis, and 100 healthy controls were recruited. For all of the participants, ACE I/D variant was detected by the polymerase chain reaction using specific primers. Results. A significant difference was found between the patients with FMF-related amyloidosis and the control group as for genotype distribution of ACE I / D variant (P < .05). The ACE D/D and I / D genotypes were more frequent in the patients with FMF-related amyloidosis while the I/I genotype was less frequent in the same patients. The FMF patients (with and without amyloidosis) had significantly higher percentages of the D/D and I/D genotypes than the healthy controls (P < .05). Comparison between the subgroups of FMF patients, divided into those with and without amyloidosis, yielded a significant correlation according to ID+II versus DD genotypes (P < .03, odds ratio, 3.24; 95% confidence interval, 1.05 to 12.01). Conclusions. Based on these observations, the ACE I/D variant D/D genotypes implicate a possible risk in the FMF-related amyloidosis among Turkish population

A Rare Cause of Pericardial Effusion: Giant Cell Arteritis

Giant cell arteritis is a granulomatous vasculitis characterized by medium or large sized vessel involvement. Although extracranial branches of the carotid artery are typically involved, involvement of aorta and its major branches can also be seen. Cardiac involvement has been encountered less frequently and pericardial effusion is rarely encountered. In this paper, a case has been presented in which pericardial effusion was determined during the examination and diagnosis was giant cell arteritis

Prevalence of insulin resistance and identifying HOMA1-IR and HOMA2-IR indexes in the Middle Black Sea region of Turkey

Background: Insulin resistance (IR) is one of the most important etiological risk factors in the development of diabetes. However, there is no clear data regarding the prevalence of IR in the country

Trends of primary glomerular disease in Turkey: TSN-GOLD registry report

Background Although several renal biopsy registry reports have been published worldwide, there are no data on primary glomerular disease trends in Turkey. Methods Three thousand eight-hundred fifty-eight native kidney biopsy records were assessed in the Turkish Society of Nephrology Primary Glomerulopathy Working Group (TSN-GOLD) Registry. Secondary disease and transplant biopsies were not recorded in the registry. These records were divided into four periods, before 2009, 2009 to 2013, 2013-2017, and 2017-current. Results A total of 3858 patients (43.6% female, 6.8% elderly) were examined. Nephrotic syndrome was the most common biopsy indication in all periods (58.6%, 53%, 44.1%, 51.6%, respectively). In the whole cohort, IgA nephropathy (IgAN) (25.7%) was the most common PGN with male predominance (62.7%), and IgAN frequency steadily increased through the periods (x 2 = 198, p 65 years), and there was no trend in this age group. An increasing trend was seen in the frequency of overweight patients (x 2 = 37, p < 0.0001). Although the biopsy rate performed with interventional radiology gradually increased, the mean glomeruli count in the samples did not change over the periods. Conclusions In Turkey, IgAN is the most common primary glomerulonephritis, and the frequency of this is increasing