Düzce Üniversitesi Araştırma ve Uygulama Hastanesi Çocuk Sağlığı ve Hastalıkları Polikliniği'ne başvuran ailesel akdeniz ateşi tanılı hastalarda mevalonat kinaz (MVK) ve nod benzeri reseptör protein 12 (nlrp12) genlerinin ekspresyon düzeylerinin incelenmesi
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Dosyalar
Tarih
2021
Yazarlar
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Yayıncı
Düzce Üniversitesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Çalışmamızın amacı Ailesel Akdeniz ateşi (AAA) hastalarının kan serumlarından elde edilen MVK ve NLRP-12 genlerinin ekspresyon düzeylerini sag?lıklı kontrollerle kars?ılas?tırmak ve bunların AAA'daki klinik önemini belirlemektir. Düzce Üniversitesi Araştırma ve Uygulama Hastanesi Çocuk Sağlığı ve Hastalıkları Polikliniği'ne başvuran, Tell Hashomer kriterlerine ve yapılan genetik analizlere göre AAA tanısıyla takip edilen 40 hasta (22 kız, 18 erkek) ve 10 sag?lıklı kontrol (4 kız, 6 erkek) çalıs?maya dahil edildi. Tam kan sayımı, serumda demir, TIBC, IUBC, ferritin, folat, vitaminB12, 25-OHvitaminD, FT4, TSH, Na, K, Cl, Ca, P, AST, ALT, ALP, üre, BUN, kreatinin, ürik asit ve spot idrarda Ca, kreatinin, mikroalbumin, protein düzeyleri rutin laboratuar metodlarıyla belirlendi. Hasta ve kontrol grubunun serumlarında MVK ve NLRP-12 genlerinin ekspresyon düzeyleri ise kantitatif "real time PCR" yöntemiyle tayin edildi. Yas? ve cinsiyet açısından AAA' lı hasta grubu ile sag?lıklı kontrol grubu arasında anlamlı bir fark yoktu (sırasıyla, p = 0,58 ve p = 0,39). Ortalama hastalık başlangıç yaşı 5,3±3,6 yıl olarak bulundu. Kontrol grubuyla kars?ılas?tırıldıg?ında AAA' lı hasta grubunda MVK ve NLRP12 genlerinin ekspresyon düzeylerinde anlamlı derecede bir fark bulundu (sırasıyla p=0,002 ve p=0,035). AAA hasta grubunun MVK geni ekspresyon seviyesi 2,0 kat ve NLRP12 geni ekspresyon seviyesi ise 1,5 kat kontrol grubundan artmış olarak bulundu. Sonuç olarak özellikle MVK ve NLRP-12 gen ekspresyon düzeylerinin AAA hastalarında anlamlı olarak arttığı tespit edildi.MVK ve NLRP-12 gen ekspresyon düzeylerinin artışının hastalığın patogeneziyle ilgili olduğu ve AAA'lı hastaların erken tanısında bu genlerin bir belirteç olarak kullanılabileceği belirlendi. Bu araştırma, prospektif bir çalışma olup AAA hastalarında MVK ve NLRP-12 gen ekspreyon düzeylerini Real Time PCR yöntemi ile tespit eden ilk çalışma olmasından dolayı bu bulguyu teyit edebilmek için çok sayıda olgunun oldug?u çok merkezli çalıs?malar gereklidir.
The aim of this study was to compare blood serum MVK and NLRP-12 genes expression levels in patients with Familial Mediterranean fever (FMF) with healthy controls, and to determine their clinical significance in patients with FMF. Forty patients (22 girls, 18 boys) with FMF who were admitted to Department of Pediatrics, Düzce University Hospital according to Tell Hashomer criteria and genetic analyses were enrolled in this study and were compared with ten healthy controls (4 girls, 6 boys). Complete blood count, serum iron, TIBC, IUBC, ferritin, folate, vitamin B12, 25-OH vitamin D, FT4, TSH, Na, K, Cl, Ca, P, AST, ALT, ALP, urea, BUN, creatinine, uric acid and spot urinary Ca, creatinine, microalbumin and protein levels were determined by routine laboratory methods. Levels of expression of MVK and NLRP-12 genes were determined by quantitative Real Time PCR method. There was no significant difference between FMF patients and healthy controls in terms of age and gender (p = 0.58 and p = 0.39, respectively). The mean age of symptom beginning was 5,3±3,6 years in patients with FMF. Compared to the healthy control group, a significant difference was found for the expression levels of MVK and NLRP12 genes in patients with FMF (p = 0.002 and p = 0.035, respectively). There was a significant correlations between ASC expression level and CXCL 13 and between CXCL 13 and TL-1a levels (p = 0.05 and 0.00, respectively). There was no significant relationship between ASC and TL-1a levels (p = 0.48).MVK gene expression level increased 2.0 times and NLRP12 gene expression level increased 1.5 times in patients with FMF compared to controls. In conclusion, it was found that especially serum MVK and NLRP-12 gene expression levels increased significantly in FMF patients. It has been determined that gene expression levels are related to the pathogenesis of FMF and that these genes might be used as a marker in the early diagnosis of the FMF disease. Since it is the first prospective study to determine MVK and NLRP-12 gene expression levels in FMF patients by real time PCR method, multi-center studies with many cases are required to confirm these findings on this topic.
The aim of this study was to compare blood serum MVK and NLRP-12 genes expression levels in patients with Familial Mediterranean fever (FMF) with healthy controls, and to determine their clinical significance in patients with FMF. Forty patients (22 girls, 18 boys) with FMF who were admitted to Department of Pediatrics, Düzce University Hospital according to Tell Hashomer criteria and genetic analyses were enrolled in this study and were compared with ten healthy controls (4 girls, 6 boys). Complete blood count, serum iron, TIBC, IUBC, ferritin, folate, vitamin B12, 25-OH vitamin D, FT4, TSH, Na, K, Cl, Ca, P, AST, ALT, ALP, urea, BUN, creatinine, uric acid and spot urinary Ca, creatinine, microalbumin and protein levels were determined by routine laboratory methods. Levels of expression of MVK and NLRP-12 genes were determined by quantitative Real Time PCR method. There was no significant difference between FMF patients and healthy controls in terms of age and gender (p = 0.58 and p = 0.39, respectively). The mean age of symptom beginning was 5,3±3,6 years in patients with FMF. Compared to the healthy control group, a significant difference was found for the expression levels of MVK and NLRP12 genes in patients with FMF (p = 0.002 and p = 0.035, respectively). There was a significant correlations between ASC expression level and CXCL 13 and between CXCL 13 and TL-1a levels (p = 0.05 and 0.00, respectively). There was no significant relationship between ASC and TL-1a levels (p = 0.48).MVK gene expression level increased 2.0 times and NLRP12 gene expression level increased 1.5 times in patients with FMF compared to controls. In conclusion, it was found that especially serum MVK and NLRP-12 gene expression levels increased significantly in FMF patients. It has been determined that gene expression levels are related to the pathogenesis of FMF and that these genes might be used as a marker in the early diagnosis of the FMF disease. Since it is the first prospective study to determine MVK and NLRP-12 gene expression levels in FMF patients by real time PCR method, multi-center studies with many cases are required to confirm these findings on this topic.
Açıklama
Anahtar Kelimeler
Çocuk Sağlığı ve Hastalıkları, Child Health and Diseases, Çocuklar, Ailesel Akdeniz Ateşi, AAA, MVK, NLRP-12, Real Time PCR, Children, Familial Mediterrenean Fever, FMF, MVK, NLRP-12, Real Time PCR
