Düzce'deki çocukluk çağı Ailevi Akdeniz Ateşi hastalarında MEFV mutasyonlarının ve tedaviye cevaplarının araştırılması
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Date
2013
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Düzce Üniversitesi
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info:eu-repo/semantics/openAccess
Abstract
Ailevi Akdeniz Ateşi, ateşin eşlik ettiği tekrarlayan karın, göğüs, eklem ağrısı ve artrit gibi seröz membranların inflamasyonuna bağlı ataklarla seyreden bir hastalıktır. Hastalığın gen mutasyonları ile ilişkisi gösterilmiş, farklı genotiplerde ve etnik gruplarda farklı seyir izleyebileceği sonucuna varılmıştır. Bu çalışmada, Tel-Hashomer kriterlerine göre AAA tanısı konmuş olup MEFV gen mutasyonu pozitif bulunan Düzce bölgesindeki çocukluk çağı hastalarda (33 hastada) bulunan MEFV mutasyon tiplerine (R202Q, M694V, E148Q) göre klinik özellikler ve kolşisin tedavisine yanıt incelendi. Anamnez ve klinikte, ailede AAA, anne baba arasında akrabalık, semptom yaşı, tanı yaşı, ateş ve süresi, karın ağrısı sıklığı ve süresi, baş ağrısı, konjonktivit, konstipasyon, diyare, miyalji, eritem, artralji ve süresi, artrit ve süresi, tutulan eklemler ve kolşisin tedavisine yanıt sorgulandı. Hastaların atak sırasında bakılmış olan hemogram, C-reaktif protein, eritrosit sedimantasyon hızları değerlendirildi. Çalışmaya alınan 33 AAA?li hastanın 18?i kız (% 55) ve 15?i erkek (% 45) idi. R202Q mutasyonu (heterozigot) tespit edilen 17 hastanın 12(%70,6)?si kız, 5(%29,4)?i erkekti. M694V mutasyonu tespit edilen 10 hastanın 3(%30,0)?ü kız, 7(%70,0)?ü erkekti. M694V mutasyonu tespit edilen bu 10 hastanın 2 tanesi homozigot diğerleri hetrozigottu. E148Q mutasyonu (heterozigot) tespit edilen 6 hastanın 3(%50,0)?ü kız, 3(%50,0)?ü erkekti. Klinik olarak AAA tanısı konulup tedavi alan ancak AAA gen mutasyonu negatif bulunup polikliniğimizde takipli olan 13 hasta ise çalışmamıza dahil edilmedi. M694V homozigot bulunan olgularda aile hikayesi pozitifliği R202Q ve E148Q mutasyonu tespit edilenlere göre anlamlı ölçüde daha yüksek bulundu. Diğer klinik özellikler ve tedaviye yanıt açısından R202Q, E148Q VE M694V mutasyon tiplerine sahip olgular arasında anlamlı bir fark gözlenmedi.
The Investigation of FMF Cases Who MEFV Mutations Clinical Findines and Response To nTreatment In Childhood In Duzce Familial Mediterranean fever, recurrent fever accompanied with abdominal, chest, joint pain and arthritis, inflammation of the serous membranes, such as attacks on the disease. Gene mutations associated with the disease has been shown in different genotypes and concluded that ethnic groups may follow a different pattern. In this study, Tel-Hashomer criteria for AAA was diagnosed as positive for gene mutation in patients with childhood in Düzce (33 patients), the types of mutations in the MEFV (R202Q, M694V, E148Q) were evaluated by the clinical features and response to colchicine treatment. Clinical history and clinical characteristics, the family AAA relationship between mother and father, symptom, age, age at diagnosis, and duration of fever, abdominal pain, frequency and duration of headaches, conjunctivitis, constipation, diarrhea, myalgia, arthralgia, and duration of erythema, arthritis and duration of the involved joints and response to colchicine treatment were recorded. Patients are cared for during the episode count, C-reactive protein, erythrocyte sedimentation rates were evaluated. Included in the study of AAA 33 patients , 18 girls (55%) and 15 men (45%), respectively. R202Q mutation (heterozygous) was identified in 12 out of 17 patients (70.6%) were female and 5 (29.4%) were male. The M694V mutation was detected in 3 out of 10 patients (30.0%) were female and seven (70.0%) of them were male. The M694V mutation was detected in 2 out of the 10 patients homozygous. E148Q mutation (heterozygous) identified in 3 out of 6 patients (50.0%) were female and 3 (50.0%) of them were male. Treatment of clinically diagnosed with AAA, AAA gene mutation negative but there are outpatient clinic follow-up, 13 patients were excluded from the study. Positive family history in patients with homozygous M694V mutation was significantly higher than R202Q and E148Q mutations. Other clinical features and response to therapy in terms R202Q, E148Q and M694V mutation showed no significant difference among patients with mutation types.
The Investigation of FMF Cases Who MEFV Mutations Clinical Findines and Response To nTreatment In Childhood In Duzce Familial Mediterranean fever, recurrent fever accompanied with abdominal, chest, joint pain and arthritis, inflammation of the serous membranes, such as attacks on the disease. Gene mutations associated with the disease has been shown in different genotypes and concluded that ethnic groups may follow a different pattern. In this study, Tel-Hashomer criteria for AAA was diagnosed as positive for gene mutation in patients with childhood in Düzce (33 patients), the types of mutations in the MEFV (R202Q, M694V, E148Q) were evaluated by the clinical features and response to colchicine treatment. Clinical history and clinical characteristics, the family AAA relationship between mother and father, symptom, age, age at diagnosis, and duration of fever, abdominal pain, frequency and duration of headaches, conjunctivitis, constipation, diarrhea, myalgia, arthralgia, and duration of erythema, arthritis and duration of the involved joints and response to colchicine treatment were recorded. Patients are cared for during the episode count, C-reactive protein, erythrocyte sedimentation rates were evaluated. Included in the study of AAA 33 patients , 18 girls (55%) and 15 men (45%), respectively. R202Q mutation (heterozygous) was identified in 12 out of 17 patients (70.6%) were female and 5 (29.4%) were male. The M694V mutation was detected in 3 out of 10 patients (30.0%) were female and seven (70.0%) of them were male. The M694V mutation was detected in 2 out of the 10 patients homozygous. E148Q mutation (heterozygous) identified in 3 out of 6 patients (50.0%) were female and 3 (50.0%) of them were male. Treatment of clinically diagnosed with AAA, AAA gene mutation negative but there are outpatient clinic follow-up, 13 patients were excluded from the study. Positive family history in patients with homozygous M694V mutation was significantly higher than R202Q and E148Q mutations. Other clinical features and response to therapy in terms R202Q, E148Q and M694V mutation showed no significant difference among patients with mutation types.
Description
YÖK Tez No: 344202
Keywords
Çocuk Sağlığı ve Hastalıkları, Child Health and Diseases, Ailesel akdeniz ateşi, Familial mediterranean fever, Genler, Genes, Kolşisin, Colchicine, Mutasyon, Mutation, Tedavi, Treatment
