İki ailede çölyak hastalığının belirlenmesinde insan lökosit antijen doku gruplarının önemi
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Date
2015-08-19
Authors
Beşer, Ömer Faruk
Erkan, Tülay
Çokuğraş, Fügen Çullu
Kutlu, Tufan
Journal Title
Journal ISSN
Volume Title
Publisher
Uludağ Üniversitesi
Abstract
Çölyak hastalığının (ÇH) insan lökosit antijeni (İLA) genleri ile güçlü bir ilişkisi vardır. Özellikle İLA-DQ2.5 ve İLA-DQ8 yapısında lökosit antijeni taşımayanlarda ÇH görülme ihtimali oldukça düşüktür. Bu çalışmada, ÇH olan iki aile olgusu sunulmakta ve hastalığın ailesel olabileceği gösterilmektedir. Ailesel olma durumunun belirlenmesinde İLA doku grupları önemlidir ve aile tarama testleri yapılarak erken tanı söz konusu olabilir. Sunmuş olduğumuz her iki ailedeki hastaların kardeşlerinde ve babalarında hiçbir yakınma ve klinik bulgu olmayıp hastalığın tanısı sadece aile taraması sonrasında koyulmuştur. İLA doku gruplarının saptanması tüm aile bireylerine uygulanmıştır. Her iki ailede de hastalar, kardeşler ve babalarda aynı İLA doku grubu (İLADR3-DQA1*0501- DQB1*0201) saptanmış olup, annelerde bu doku grubu saptanamamıştır. ÇH belirli İLA grupları ile ilişkilidir ve genetik yatkınlık mevcuttur. Bu nedenle aile bireylerinden herhangi birisinde ÇH saptanması durumunda diğer aile fertlerinde hiçbir yakınma olmasa da tarama yapılmalıdır. Diğer yandan semptomu olan ve serolojik testleri yüksek düzeyde pozitif saptanan hastalarda İLA doku tipinin belirlemesi hastalıktan şüphelenmede oldukça önemlidir.
Celiac disease (CD) is strongly related to human leukocyte antigens (HLA) genes. The incidence of CD is very low in patients without the HLA-DQ2.5 and HLADQ8 leukocyte antigens. This study presents two families with CD and shows that the disease might be familial. The determination of HLA tissue groups is important and family screening tests may lead to early diagnose of the disease. In both of the families, the patients’ siblings and fathers were asymptomatic, but diagnoses were made after family screening tests. HLA tissue typing was performed in all family members. The patients, siblings and fathers carried the HLADR3-DQA1*0501- DQB1*0201 tissue groups in both two families while this tissue group was not present in the mothers. As CD is strongly related to certain HLA groups and has a genetic predisposition, all members of a family must be screened when a case of CD is diagnosed in any family member. On the other hand, the determination of the HLA tissue type in patients with both symptoms and very positive serologic tests is important in terms of suspicion of the disease.
Celiac disease (CD) is strongly related to human leukocyte antigens (HLA) genes. The incidence of CD is very low in patients without the HLA-DQ2.5 and HLADQ8 leukocyte antigens. This study presents two families with CD and shows that the disease might be familial. The determination of HLA tissue groups is important and family screening tests may lead to early diagnose of the disease. In both of the families, the patients’ siblings and fathers were asymptomatic, but diagnoses were made after family screening tests. HLA tissue typing was performed in all family members. The patients, siblings and fathers carried the HLADR3-DQA1*0501- DQB1*0201 tissue groups in both two families while this tissue group was not present in the mothers. As CD is strongly related to certain HLA groups and has a genetic predisposition, all members of a family must be screened when a case of CD is diagnosed in any family member. On the other hand, the determination of the HLA tissue type in patients with both symptoms and very positive serologic tests is important in terms of suspicion of the disease.
Description
Keywords
Çocuk, Çölyak hastalığı, İnsan lökosit antijenleri, Children, Celiac disease, Human leukocyte antigens
Citation
Beşer, Ö. F. vd. (2016). "İki ailede çölyak hastalığının belirlenmesinde insan lökosit antijen doku gruplarının önemi". Güncel Pediatri, 14(2), 96-99.