Ailesel sarkoidoz

Year 2013, Volume: 23 Issue: 4, 130 - 132, 01.01.2013

Durdu Mehmet Yavşan Mustafa Göktepe Nadir Koçak Mustafa Dinç Ayşe Uyanmış Kürşat Uzun

Abstract

Sarkoidoz, nedeni tam olarak bilinmeyen ancak etiyolojisinde genetik, enfeksiyöz ajanlar, mesleksel maruziyet ve çevresel faktörlerin rol oynadığı multisistemik granülomatöz bir hastalıktır. Sarkoidozda ailesel yatkınlık bilinmekle beraber kalıtım şekli tam olarak tanımlanamamıştır. Bu makalede histopatolojik olarak sarkoidoz tanısı koyduğumuz iki kız kardeşi sunduk. Yapılan genetik incele- me sonucunda her iki kardeşte de Human Lökosit Antijen HLA HLA A24, B51, Cw07, DRB1 15, DQB1 06 genleri ortak olarak saptandı. Her iki olguya steroid tedavisi başlandı ve takibe alındı. Sonuç olarak her iki kız kardeşte tesbit edilen bulgulara göre sarkoidozda ailesel genetik yatkınlık olabileceği ve sarkoidoz tanısı alan bireylerin ailesinin sarkoidoz yönünden değerlendirilmesi gerektiği kanısına varıldı

Keywords

Sarkoidoz, ailesel, HLA

Hereditary sarcoidosis

Abstract

Sarcoidosis is a multisistemic, granulomatous disease with an unknown etiology, but genetic factors, infectious agent occupatinal exposure and environmental factors may play a role in etiology. Although familial predisposition is known in sarcoidosis, the type of inharitance is not defined exactly. In this article we reported two sisters with the diagnosis of sarcoidosis confirmed histopathologi- cally. The result of genetic analysis reaveled that were common in human leucocyte antigen HLA HLA A24, B51, Cw07, DRB1 15, DQB1 06 genes both of the sisters. Steroid therapy was initiated to both patients and they were followed up. In conclution , according to findings found in both sisters, we thought that genetic predisposition could be seen in sarcoidosis and the family members of the sarcoidosis cases should be evaluated for sarcoidosis

Keywords

Sarcoidosis, hereditary, HLA

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