No abstract

No abstract

Background: Familial Mediterranean fever (FMF) is an autosomal recessive genetic disease characterized by fever and serositis attacks. The most important complication is amyloidosis. In FMF patients, chronic kidney disease (CKD) can develop without amyloid development. The aim of the study is to evaluate the development of CKD in FMF patients and to determine the factors that are involved in this development.Method: One hundred seventy eight FMF patients who were followed up between 2000 and 2020 were included in the study. FMF diagnosis was made according to the Tel-Hashomer criteria. Genetic tests were studied in cases which there was suspicion of diagnosis. Clinical and demographic characteristics of patients and all laboratory data including urea, creatinine, estimated glomerular filtration rate (eGFR), and proteinuria in 24-hour urine at the time of first and last admission were evaluated.Results: The mean age of the patients was 34.53 ± 10.72, the follow-up period was 6.12 ± 3.94, and the diagnosis age was 21.7 ± 11.5 years. The number of patients with late disease onset and the percentage of kidney biopsy performed were higher in the genetic test group. There was no difference in the inflammatory parameters. The risk factors associated with the development of CKD were early disease onset and arthritis attacks.Conclusion: The role of genotype characteristics in the development of CKD has not been determined. Patients diagnosed with FMF disease at an early age and especially with arthritis attacks should be closely monitored in terms of the risk of developing CKD.

Background Apelin is a peptide that has important effects on the cardiovascular system due to its anti‐atherogenic properties and regulating blood pressure. There is not enough research evaluating the effects of apelin levels on the cardiovascular system in hemodialysis (HD) and peritoneal dialysis (PD) patients concurrently. The aim of this study was to determine apelin levels in dialysis, and control groups and to investigate the relationship between apelin and carotid intima media thickness (CIMT). Materials and methods Thirty three HD patients, 35 PD patients, and 15 healthy individuals were included in the study. All laboratory data, N‐terminal pro‐B‐type natriuretic peptide (NT‐proBNP), IL‐6, and apelin‐13 levels were analyzed. To prevent interobserver errors in CIMT measurement, the analyses were performed by a single radiologist. Result CIMT, presence of plaque, apelin, NT‐proBNP, IL‐6, and C‐reactive protein (CRP) levels were higher in dialysis patients. There was a relationship between apelin and CIMT, and between apelin and high‐density lipoprotein (HDL) in PD patients. Age, apelin, HDL, parathormone (PTH), glucose, and smoking were found to affect the presence of plaque in dialysis patients. Conclusion Apelin levels were high in dialysis patients. Especially in PD patients, there was a negative correlation between apelin and CIMT, and between apelin and HDL. Therefore, apelin may play a role in the pathogenesis of cardiovascular diseases in PD patients.

Ailevi Akdeniz Ateși (AAA) ateș ve serozit atakları ile karakterize otozomal resesif geçișli genetik bir hastalıktır. Tanı Tel-hashomer kriterlerine göre konulur. Genetik testler tanıyı desteklemeye yönelik yardımcı yöntemlerdir. Çalıșmamızın amacı genetik testlerin fenotip, subklinik inflamasyon ve komplikasyonlarla ilișkisini değerlendirmektir.GEREÇ VE YÖNTEM: Çalıșmaya 2000-2020 yılları arasında nefroloji polikliniğinde takip edilen, ek hastalıkları olmayan, genetik testleri çalıșılmıș 97 AAA hastası alındı. Tüm hastaların demografik, klinik özellikleri ve laboratuvar verileri kaydedildi. Hastalar genetik özelliklerine göre üç gruba ayrıldı. Grup I M694V homozigot mutasyonu olan, grup II M694V heterozigot veya M694V birleșik heterozigot mutasyonu olan, grup III M694V dıșı homozigot, heterozigot veya birleșik heterozigot mutasyonu olan hastalardan oluștu. Verilerin karșılaștırılması yapıldı.BULGULAR: Hastaların yaș ortalaması 36.64±10.78, teșhis yașı 25.05±1.47, takip süresi 6.3±4 yıldı. En sık görülen semptom %88.7 ile karın ağrısıydı. Hastaların %26.8'inde subklinik inflamasyon tespit edildi. %13.4'üne böbrek biyopsisi yapıldı. Tanı anında hastaların %16.5'inde kronik böbrek hastalığı varken 6.3 yıllık takip sonrası bu oran %27.8'e yükseldi. Üç grup arasında klinik bulgular açısından anlamlı farklılık bulunmadı. Ancak grup-1'de kas-iskelet sistemi bulguları daha ön plandaydı. CRP ve fibrinojen düzeyi grup-I ve grup-II'de anlamlı yüksek bulundu. SONUÇ: AAA hastalarına genetik test yaptırılıp özellikle M694V homozigot mutasyon tespit edildiyse, ataklar ve subklinik inflamasyon açısından hastalar yakın takip edilmelidir. Kontrollere geldiklerinde atak döneminde olmasalar bile CRP, fibrinojen gibi inflamatuvar parametreler ölçülmelidir. Yüksek değerlere sahip olan hastalar, AA amiloidoz, kronik böbrek hastalığı gibi komplikasyonlara karșı yakın takip edilmelidir.