Çölyak hastalığı olan bir ailede HLA tiplendirmesi yapılması

Çöliak hastalığı veya gluten enteropatisi, otoimmun bir malabsorbsiyontipidir. Başlıca problem bir protein olan glutene karsı artmış hassasiyettir. Çöliak hastalığının genetik bir temeli vardır. Özellikle DQ2 ve DQ8’ikodlayan spesifik HLA allellerinin varlığı tanıda yardımcıdır. Çölyak hastalarının akrabaları, genel populasyona göre, çölyak açısından artmış riskaltındadır. Yani çölyak hastalığı ailelerde oluşur ve aile üyelerinin taranması yeni hastaların tanılarının konmasına imkan sağlar. Bu çalışmada,biopsi ve genetik testlerle çölyak hastalığı tespit edilmiş bir aile taraması değerlendirilmiştir. Klinik özellikleri ile çölyak hastalığı düşünülen birolgunun yapılan biopsisi çölyak ile uyumlu bulunmuş olup, genetik açıdan da strip assay yöntemi (invitro amplifikasyon sonrası revers hibridizasyon) kullanılarak olguya ve ailesine HLA tipleme yapılmıştır.Ailede iki kardeş ve bir yeğenlerinde DQA1*0501 ve DQB1*0201 alleleri,iki kardeşte DQB1*0201 alleli, diğer yeğende ise DQA1*0501 alleli tespit edilmiştir. Çölyak tespit edilmiş olguların yakınları da hastalık açısından araştırılmalı, HLA tiplendirmesi sonrası hastalar genetik danışmanlığa yönlendirilmelidir.

HLA typing of a family diagnosed with celiac disease

Celiac disease (CD), or gluten enteropathy, is a type of autoimmunemediated malabsorption. The main problem is increased sensitivity to aprotein called as gluten. There is a genetic predisposition to CD. The presence of specific HLA alleles that encode for DQ2 and DQ8 is helpfulin the diagnosis of CD. The relatives of patients with CD, compared tothe general population, are at more risk for CD. CD occurs in familiesand screening of family members accounts for a significant percentage ofnewly diagnosed patients. In this study, a family screening diagnosis ofCD with biopsy and genetic testing has been evaluated. CD had been suspected because of the clinical features of the patient, the biopsy was concordant with CD, and mutation screening by reverse hybridization wasperformed in the patient and her family. DQA1*0501 and DQB1*0201 alleles in two sisters and in one cousin, DQB1*0201 allele in two brothers,and DQA1*0501 allele in one cousin were found. The families of CD patients have to be tested for the disease and the patients with CD have to beencouraged to undergo genetic counseling.

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