X'e bağlı agammaglobulinemi tanılı olgularda moleküler analiz ve uzun süreli izlem sonuçları
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Dosyalar
Tarih
2020
Yazarlar
Dergi Başlığı
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Yayıncı
Ege Üniversitesi, Tıp Fakültesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Bu çalışmada 1995-2018 yılları arasında Ege Üniversitesi Tıp Fakültesi Çocuk
İmmünoloji Bilim Dalında izlenen konjenital agammaglobulinemi hastalarının 21 tanesine
moleküler analiz yapılmıştır. 20 tanesinde BTK, 1 tanesinde BLNK geninde hastalık yapıcı
mutasyon saptanmıştır. XLA tanısı alan 21 hasta 19 farklı aileye ait olup 2 ailenin ikişer BTK
defektli çocuğu vardır. Çalışmada 19 farklı mutasyon saptanmıştır ve bunların 7 tanesi ilk kez
tanımlanmıştır. BLNK defekti homozigot olup bu nedenle tanı konulan ilk hastamızdır. Bu
hastanın öyküsü/kliniği tipik XLA hastası gibi olup 4 yaşında tanı almıştır ve 2 yıldır İVİG ile
izlenmekte olup tedaviye mükemmel yanıt alınmıştır.
2 hasta akraba taramalarında yakalanmıştır. Bu hastaların bir tanesi 4 aylıkken tanı
almıştır, en erken tanı alan hastamızdır. Diğer hastamız ise 4 yaşındayken sağ dizde
osteomyelit olması nedeniyle araştırılırken Bruton tanısı alan hastanın ikiz eşidir. Her iki
hasta da henüz enfeksiyon geçirmemişken, hastalara İVİG replasman tedavisi başlanmış ve
izlemde henüz enfeksiyonlara bağlı bir komplikasyon görülmemiştir.
Hastalarımızın 5 tanesi 18 yaş ve üzerinde olup en büyük hastamız 34 yaşındadır ve
en uzun takip süremiz 30 yıldır. Sonuç olarak, XLA hastaları düzenli tedavi ve takiple erişkin
yaşa ulaşmakta ve tamamına yakını normal bir hayat sürebilmektedir.
Bu araştırmada amaç; hastalarımızda fenotip-genotip korelasyonunun yanısıra bazı
demografik bilgilerin incelenmesi, tanı yaşı ortalamasının saptanması, Ig düzeylerinin
düşüklüğü ve B hücre yokluğu gibi klasik bilgilerin yanısıra ilginç bir verilerin olup
olmadığının araştırılması, ve akciğer bulgularının detaylı incelemesi yapılarak bunların
genotip ile bir bağlantısı olup olmadığının ortaya konması planlanmıştır.
In this study, molecular analysis was performed on 21 of the patients with congenital agammaglobulinemia who were followed up in the Department of Pediatric Immunology at Ege University Faculty of Medicine between 1995 and 2018. In these 21 patients, 20 BTK and 1 in the BLNK gene had a disease-causing mutation. 21 patients diagnosed with XLA belong to 19 families and 2 families have four children with BTK defects. In the study, 19 different mutations were detected. 7 of them have been identified for the first time. The BLNK defect is homozygous and therefore is the first patient to be diagnosed. The history/clinic of this patient is like a typical XLA patient and was diagnosed at the age of 4. He has been followed up by IVIG for 2 years and the treatment has received an excellent response. 2 patients were diagnosed during their family screening. One of these patients was diagnosed at the age of 4 months. This patient is our earliest diagnosed patient. Our other patient was the twin of the patient who was diagnosed as Bruton while he was being investigated because of osteomyelitis in her right knee when she was 4 years old. While both patients have not yet been infected, IVIG replacement therapy has been started and no infection-related complications have been observed during the monitoring period. Five of our patients are over than 18 years old and our eldest patient is 34 years old. And, our longest monitoring time is 30 years. As a result, XLA patients reach adult age with minimum complications under the regular treatment and monitoring, and almost all of them can lead a normal life. The aim of this study, in addition to the phenotype-genotype correlation in our patients, it was planned to examine some demographic information, to determine the average age of diagnosis, to investigate whether there are interesting data as well as classical information such as low levels of Ig levels and absence of B cells, and detailed examination of lung findings and revealing whether they are related to genotype.
In this study, molecular analysis was performed on 21 of the patients with congenital agammaglobulinemia who were followed up in the Department of Pediatric Immunology at Ege University Faculty of Medicine between 1995 and 2018. In these 21 patients, 20 BTK and 1 in the BLNK gene had a disease-causing mutation. 21 patients diagnosed with XLA belong to 19 families and 2 families have four children with BTK defects. In the study, 19 different mutations were detected. 7 of them have been identified for the first time. The BLNK defect is homozygous and therefore is the first patient to be diagnosed. The history/clinic of this patient is like a typical XLA patient and was diagnosed at the age of 4. He has been followed up by IVIG for 2 years and the treatment has received an excellent response. 2 patients were diagnosed during their family screening. One of these patients was diagnosed at the age of 4 months. This patient is our earliest diagnosed patient. Our other patient was the twin of the patient who was diagnosed as Bruton while he was being investigated because of osteomyelitis in her right knee when she was 4 years old. While both patients have not yet been infected, IVIG replacement therapy has been started and no infection-related complications have been observed during the monitoring period. Five of our patients are over than 18 years old and our eldest patient is 34 years old. And, our longest monitoring time is 30 years. As a result, XLA patients reach adult age with minimum complications under the regular treatment and monitoring, and almost all of them can lead a normal life. The aim of this study, in addition to the phenotype-genotype correlation in our patients, it was planned to examine some demographic information, to determine the average age of diagnosis, to investigate whether there are interesting data as well as classical information such as low levels of Ig levels and absence of B cells, and detailed examination of lung findings and revealing whether they are related to genotype.
Açıklama
Anahtar Kelimeler
Agammaglobulinemi, Bruton, XLA, Primer İmmun Yetmezlik, Agammaglobulinemi, Bruton, XLA, Primer İmmun Deficiency
