Öz
Marfan sendromu 15. kromozomda mutasyonlar ile oluşan konnektif dokunun otozomal dominant kalıtım ile geçen bir hastalığıdır. Kardiyovasküler hastalıklar ve diafragmatik hernileri de içeren yumuşak doku herniasyonları Marfan sendromunda görülebilen durumlardır. Olgu: 22 yaşında erkek hasta, hipertansiyonun klinik bulguları ile nefroloji polikliniğine başvurdu. Hastanın değerlendirmesinde Morgagni diyafragmatik herni ve renal infarkt tespit edildi. Hastanın yapılan muayenesinde Marfan sendromunu düşündüren fiziksel görünümüne sahipti. Radyolojik değerlendirmeler sağ konjenital diyafragmatik Morgagni hernisi ve renal infarktı ortaya çıkardı. Sonuç: Marfan sendromunda akselere hipertansiyon varlığında renal infarkt akla gelmelidir. Ayrıca hastalarda diyafragma yüksekliği varsa Morgagni hernisi olabileceği unutulmamalıdır. Anahtar kelimeler: Marfan Sendromu, Renal İnfarkt, Morgagni Hernisi
Anahtar Kelimeler
Kaynakça
- Prockop JD, Kuivaniemi H, Tromp G; Leena AK. Inherited disorders of connective tissue. İn: Braunwald E, Fauci AS, Kasper DL. et al (eds). Harrison’s Principles of Internal Medicine, 15th edition, McGraw Hill, 2290–2300, International Edition, New York; 2003; pp: 2298–300.
- Jacobs AM, Toudjarska I, Racine A, Tsipouras P, Kilpatrick MW, Shanske A. A recurring FBN1 gene mutation in neonatal Marfan syndrome. Arch Pediatr Adolesc Med 2002;156: 1081–5.
- Yetman AT, Greenberg SB, Ghaffar S. Diaphragmatic hernia. Pediatr Cardiol 2003;24: 307–8.
- Alamir A, Middendorf DF, Baker P, Nahman NS Jr, Fontaine AB, Hebert LA. Renal artery dissection causing renal infarction in otherwise healthy men. Am J Kidney Dis, 1997;30(6): 851–5.
- Keswani RN, Prachand VN, Te HS. Paraesophageal hernia: a rare presentation of Marfan syndrome in adults. Gastrointest Endosc, 2007; 66(5):1050–2.
Öz
Backround: Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in the chromosome 15. Cardiovascular disorders and soft tissue hernias including diaphragmatic hernias may seen in Marfan syndrome Objective: A 22 years-old male patient admitted to our clinic with clinical features of hypertension and we found Morgagni diaphragmatic hernia and renal infarct at the evaluation. He had the clinical outlook of Marfan syndrome. Radiological investigations demonstrated a right congenital diaphragmatic Morgagni hernia and renal infarct. Conclusion: Because, Marfan syndrome is presented with several clinical manifestations which can be seen at different ages from neonatal age to elder ages; diaphragmatic hernia should remind Marfan syndrome and further clinical evaluations should be performed. We report a patient with Morgagni diaphragmatic hernia which may seen as a rare complication of Marfan syndrome and renal infarct without aort or renal dissection and aneurysm. Key words: Marfan Syndrome, Renal Infarct, Morgagni Hernia
Anahtar Kelimeler
Kaynakça
- Prockop JD, Kuivaniemi H, Tromp G; Leena AK. Inherited disorders of connective tissue. İn: Braunwald E, Fauci AS, Kasper DL. et al (eds). Harrison’s Principles of Internal Medicine, 15th edition, McGraw Hill, 2290–2300, International Edition, New York; 2003; pp: 2298–300.
- Jacobs AM, Toudjarska I, Racine A, Tsipouras P, Kilpatrick MW, Shanske A. A recurring FBN1 gene mutation in neonatal Marfan syndrome. Arch Pediatr Adolesc Med 2002;156: 1081–5.
- Yetman AT, Greenberg SB, Ghaffar S. Diaphragmatic hernia. Pediatr Cardiol 2003;24: 307–8.
- Alamir A, Middendorf DF, Baker P, Nahman NS Jr, Fontaine AB, Hebert LA. Renal artery dissection causing renal infarction in otherwise healthy men. Am J Kidney Dis, 1997;30(6): 851–5.
- Keswani RN, Prachand VN, Te HS. Paraesophageal hernia: a rare presentation of Marfan syndrome in adults. Gastrointest Endosc, 2007; 66(5):1050–2.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Makaleler |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Ağustos 2009 |
| Yayımlandığı Sayı | Yıl 2009 Cilt: 16 Sayı: 4 |