e-ISSN 2147-2475

Hzl Arama




Marfan Sendromu: Olgu Sunumu [Respir Case Rep]
Respir Case Rep. 2020; 9(3): 136-142 | DOI: 10.5505/respircase.2020.88609

Marfan Sendromu: Olgu Sunumu

Mediha Gnen Ortakyl, Tue zen, Belma Akbaba Bac, Esma Seda Akaln Karaca
Salk Bilimleri niversitesi Yedikule Gs Hastalklar Ve Gs Cerrahisi Eitim Ve Aratrma Hastanesi

Marfan sendromu (MFS), otozomal dominant geili balca kardiyovaskler, okler, kas-iskelet ve sinir sistemlerini etkileyen bir ba dokusu bozukluudur. MFSlu olgularn %66-91inde 15. kromozomdaki fibrillin -1 (FBN1 ) gen mutasyonu saptanm olmakla beraber, olgularn %27si yeni mutasyonlardan kaynaklanr. Yetikinlerde klinik tan Ghent kriterlerine gre yaplmaldr. Erken tan, aortu koruyucu medikal ve cerrahi tedaviler ve dzenli takip ciddi komplikasyonlarn nlenmesine veya geciktirilmesine yardm eder. Otuz yanda prlan kanl balgam, ate ve terleme ikayetleri olan Marfan sendromu tans koyduumuz olgumuzu sunduk.

Anahtar Kelimeler: Marfan Sendromu, akcier, tan.

Marfan Syndrome: A Case Report

Mediha Gnen Ortakyl, Tue zen, Belma Akbaba Bac, Esma Seda Akaln Karaca
University Of Heath Sciences Yedikule Chest Diseases And Thoracic Surgery Training And Research Hospital, stanbul, Turkey

Marfan syndrome (MFS) is a connective tissue disorder inherited by autosomal dominant pattern that affects primarily cardiovascular, ocular, musculoskeletal and nervous systems. Even though, mutation in the fibrillin-1 gene (FBN1) located on Chromosome 15 was detected in 66-91% in the case with MFS, 27% of the cases were caused by novel mutations. The clinical diagnosis in adults is established according to Ghent Criteria. Early diagnosis, aortic valve-sparing medical and surgical treatments, and regular patient follow-up are helpful in preventing and delaying serious complications. In this case report, we have presented a 30-year-old case who admitted to the hospital due to the complaints of purulent bloody sputum, fever and sweating, and was diagnosed with Marfan syndrome.

Keywords: Marfan's Syndrome, lung, diagnosis.

Olgunun Tomografi Kesitleri




Mediha Gnen Ortakyl, Tue zen, Belma Akbaba Bac, Esma Seda Akaln Karaca. Marfan Syndrome: A Case Report. Respir Case Rep. 2020; 9(3): 136-142

Sorumlu Yazar: Mediha Gnen Ortakyl, Trkiye
LookUs & Online Makale