Respir Case Rep. 2020; 9(3): 136-142 | DOI: 10.5505/respircase.2020.88609

Marfan Sendromu: Olgu Sunumu

Mediha Gönenç Ortaköylü, Tuðçe Özen, Belma Akbaba Baðcý, Esma Seda Akalýn Karaca
Saðlýk Bilimleri Üniversitesi Yedikule Göðüs Hastalýklarý Ve Göðüs Cerrahisi Eðitim Ve Araþtýrma Hastanesi

Marfan sendromu (MFS), otozomal dominant geçiþli baþlýca kardiyovasküler, oküler, kas-iskelet ve sinir sistemlerini etkileyen bir bað dokusu bozukluðudur. MFS’lu olgularýn %66-91’inde 15. kromozomdaki fibrillin -1 (FBN1 ) gen mutasyonu saptanmýþ olmakla beraber, olgularýn %27’si yeni mutasyonlardan kaynaklanýr. Yetiþkinlerde klinik taný Ghent kriterlerine göre yapýlmalýdýr. Erken taný, aortu koruyucu medikal ve cerrahi tedaviler ve düzenli takip ciddi komplikasyonlarýn önlenmesine veya geciktirilmesine yardým eder. Otuz yaþýnda pürülan kanlý balgam, ateþ ve terleme þikayetleri olan Marfan sendromu tanýsý koyduðumuz olgumuzu sunduk.

Anahtar Kelimeler: Marfan Sendromu, akciðer, taný.

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Marfan Syndrome: A Case Report

Mediha Gönenç Ortaköylü, Tuðçe Özen, Belma Akbaba Baðcý, Esma Seda Akalýn Karaca
University Of Heath Sciences Yedikule Chest Diseases And Thoracic Surgery Training And Research Hospital, Ýstanbul, 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.

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Olgunun Tomografi Kesitleri

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