Henoch-Schonlein Purpuralı Çocuklarda Angiotensin Konverting Enzim Gen Polimorfizmi

Yıl 2013, , 11 - 15, 01.01.2013

Hasan Dursun Aytül Noyan Aysun Karabay Bayazıt Selçuk Matyar Mithat Büyükçelik Behçet Şimşek Gülen Attila Nurcan Cengiz Ali Anarat

https://doi.org/10.5222/j.child.2013.011

Öz

Amaç: Henoch-Schönlein purpuralı HSP 54 çocukta anjiotensin konverting enzim ACE gen polimorfizminin hastalığın kliniği, prognozu ve klinik seyri ile olan ilişkisini araştırmak amacıyla ACE geninin insersiyon I ve delesyon D polimorfizmini araştırdık. Gereç ve Yöntem: Hasta kan örnekleri EDTA’lı tüpe alındı. Lökosit DNA’sı elde edilerek PCR yöntemiyle ACE I/D polimorfizmleri belirlendi. Bulgular: Hastaların tümünde ACE genotipleri II, ID ve DD’nin oranları sırasıyla % 4, % 74 ve % 22 olarak saptandı. Hastalar HSP nefriti olanlar n=14 , HSP’li ve hafif idrar bulguları olanlar n=18 ve böbrek tutulumu olmayanlar n=22 olmak üzere üç gruba ayrıldı. ACE genotipleri II, ID ve DD’nin dağılımları sırasıyla HSP nefritinde % 7, % 57, % 36; hafif idrar bulguları olanlarda % 0, % 89, % 11; böbrek tutulumu olmayanlarda % 5, % 72, % 23 olarak saptandı. Renal tutulum varlığı ile ACE genotipleri arasında istatistiksel olarak anlamlı bir ilişki saptanmadı χ2 =4.39, p=0.356 . ACE allelleri I ve D’nin dağılımları sırasıyla HSP nefritinde % 36 ve % 64, hafif idrar bulguları olanlarda % 44 ve % 56, böbrek tutulumu olmayanlarda ise % 41 ve % 59 olarak saptandı. Böbrek tutulumu ile ACE allelleri arasında istatistiksel olarak anlamlı bir ilişki saptanmadı χ2 =0.500, p=0.780 . Sonuç: Bu veriler HSP’li çocuklarda böbrek tutulumu ile DD genotipi veya D alleli arasında istatistiksel olarak anlamlı bir ilişkiyi desteklememektedir. Bununla birlikte D alleli hastaların % 96’sında saptandı ve DD genotipi de HSP nefritli hastalarda böbrek tutulumu olmayanlara göre daha yüksek bulundu. Bu sonuçlara göre hastalığın oluşumunda ve renal tutulumda D allelinin kolaylaştırıcı ve I allelinin ise koruyucu faktör olduğunu gösterdik, fakat bu bulguları destekleyen daha büyük çalışmalar gereklidir.

Anahtar Kelimeler

ACE gen polimorfizmi, HenochSchönlein purpursı

Angiotensin Converting Enzyme Gene Polymorphism in Children with Henoch-Schonlein Purpura

Öz

Objective: We examined the insertion I and deletion D polymorphism of angiotensin converting enzyme ACE gene polymorphism in 54 children with HSP to investigate the associated with presentation, prognosis and progression of children with Henoch-Schönlein purpura HSP . Materal and Methods: Blood samples were collected from patients and obtained into EDTA. Genomic DNA from peripheral blood lymphocytes was purified. The ACE I/D gene polymorphism was detected by PCR with primer sequences derived. Results: The percent of ACE genotypes II, ID and DD in all patients was detected 4 %, 74 % and 22 % respectively. Patients were divided into 3 groups as HSP nephritis n=14 , HSP with minor urinary anomaly n=18 and HSP without renal involvement n=22 . The distribution of ACE genotypes II, ID and DD respectively in HSP nephritis was 7 %, 57 %, 36 %; in HSP with minor urinary anomaly was 0 %, 89 %, 11 %; and in HSP without renal involvement was 5 %, 72 %, 23 % detected. No association was found between the ACE genotypes and the presence of renal involvement χ2 =4.39, p=0.356 . The distribution of ACE allels I and D respectively in HSP nephritis was 36 % and 64 %; in HSP with minor urinary anomaly was 44 % and 56 % and in HSP without renal involvement was 41 % and 59 % detected. No association was found between the ACE allels and the presence of renal involvement χ2 =0.500, p=0.780 . Conclusion: In conclusion these results does not support a statistically significantly association between renal involvement and DD genotype or D allel in children with HSP. However D allele was detected in 96 % patients and DD genotype was higher in patients with HSP nephritis than patients without renal involvement. According these results we showed that D allel is a facilitative and I allel is a protective factor for development and renal involvement of disease. However larger studies are required to confirm these results.

Anahtar Kelimeler

ACE gene polymorphism, Henoch-Schönlein purpura

Kaynakça

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