Durdu Mehmet YAVŞAN, Mustafa GÖKTEPE, Nadir KOÇAK, Mustafa DİNÇ, Ayşe UYANMIŞ, Kürşat UZUN

Ailesel sarkoidoz

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

Hereditary sarcoidosis

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

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Baughman RP, Lower EE, Du Bois RM. Sarcoidosis. Lancet 2003;61:1111-8.
Moller D. Sarcoidosis. In: Albert (eds). Clinical Respiratory Medi- cine. Mosby. 2004;565-58.
Kucera GP, Rybicki BA, Kirkey KL et al. Occupational risk fa- ctors for sarcoidosis in African-American siblings. Chest 2003;123:1527-35.
Newman LS, Rose CS, Bresnitz EA et al.; ACCESS Research Group. A case control etiologic study of sarcoidosis: environ- mental and occupational risk factors. Am J Respir Crit Care Med 2004;170:1324-30.
Harrington DW, MajorM, Rybicki B, Popovich J, et al. Fami- lial sarcoidosis: analysis of 91 families. Sarcoidosis 1994;11 (1Suppl):240-3
Rossman M, Thompson B, Frederick M, et al. Sarcoidosis: associ- ation with human leukocyte antigen class II amino acid epitopes and interaction with environmental exposures. Chest 2002;121 (3 Suppl):14S
Smith G, Brownell I, Sanchez M, Prystowsky S. Advances in the genetics of sarcoidosis. Clin Genet 2008;73:401-12.
Brennan NJ, Crean P, Long JP, et al. High prevalence of familial sarcoidosis in an Irish population. Thorax 1984;39:14-8.
Reid JD. Sarcoidosis in coroner's autopsies: a critical evaluation of diagnosis and prevalence from Cuyahoga County, Ohio. Sarcoido- sis Vasc Diffuse Lung Dis 1998;15:44-51.
Thomeer M, Demedts M, Wuyts W. Epidemiology of sarcoidosis. Eur Respir Mon 2005:32:13-22
Iannuzzi MC, Rybicki BA. Genetics of sarcoidosis: candidate genes and genome scans. Proc Am Thorac Soc 2007;4:108-16.
Bilir M, Sipahi S, Yılmaz E, ve ark. Association of HLA class I and II antigens with sarcoidosis. Cerrahpaşa J Med 1999;30:163-6.
Uyar M, Elbek O, Tükenmez E, ve ark. Familyal Sarkoidoz. Solu- num 2006;8:174-8.
du Bois RM, Goh N, McGrath D, et al. Is there a role for mic- roorganisms in the pathogenesis of sarcoidosis? J Intern Med 2003;253:4-17.
Rybicki BA, Kirkey KL, Major M, et al. Familial risk ratio of sar- coidosis in African-American sibs and parents. Am J Epidemiol 2001;153:188-93.