Alström syndrome with liver cirrhosis: First case from Turkey
Yıl: 2013 Cilt: 24 Sayı: 6 Sayfa Aralığı: 546 - 548 Metin Dili: Türkçe İndeks Tarihi: 29-07-2022
Alström syndrome with liver cirrhosis: First case from Turkey
Öz: Alström sendromu çocukluk çağında trunkal obezite, insülin direnci ve hiperinsülinemi, tip 2 diyabet, hipertrigliseridemi, yetişkinlikte boy kısalığı, kardiyomyopati ve ilerleyici akciğer, karaciğer ve böbrek fonksiyon bozukluğu, işitme kaybı, gözde koni-çomak distrofisi ile karakterize otozomal resesif geçişli genetik bir hastalıktır. Alström sendromu karaciğer sirozunun oldukça nadir bir sebebidir. Alström sendromlu hastaların post-mortem biyopsilerinde karaciğer, böbrek, kalp ve akciğerler gibi birçok organda fibro- sis gösterilmiştir. Bilinen karaciğer sirozu olmayan ve acil servise özofagus varis kanaması ile başvuran Alström sendromlu bir vaka sunmaya çalıştık.
Anahtar Kelime: Konular:
Türkiye den bildirilen ilk karaciğer sirozlu Alström vakası
Öz: Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood trun- cal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyo- pathy, and progressive pulmonary, hepatic, and renal dysfunction. Alström syndrome is a very rare cause of liver cirrhosis. Post- mortem biopsies of patients with Alström syndrome show relevant fibrosis in multiple organs especially in the liver, kidneys, heart, and lungs. We report the case of a patient with Alström syndrome who presented to emergency department with esophageal varice- al bleeding and who was not known to have hepatic cirrhosis before.
Anahtar Kelime: Konular:
Belge Türü: Makale Makale Türü: Olgu Sunumu Erişim Türü: Erişime Açık
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| APA | biyik m, UÇAR R, GÜNGÖR G, ÇAKIR ÖZER Ö, ESEN H, AKSAN S, ATASEVEN H, DEMİR A (2013). Alström syndrome with liver cirrhosis: First case from Turkey. , 546 - 548. |
| Chicago | biyik murat,UÇAR Ramazan,GÜNGÖR Gökhan,ÇAKIR ÖZER Özlem,ESEN Hasan,AKSAN Serkan,ATASEVEN Hüseyin,DEMİR ALİ Alström syndrome with liver cirrhosis: First case from Turkey. (2013): 546 - 548. |
| MLA | biyik murat,UÇAR Ramazan,GÜNGÖR Gökhan,ÇAKIR ÖZER Özlem,ESEN Hasan,AKSAN Serkan,ATASEVEN Hüseyin,DEMİR ALİ Alström syndrome with liver cirrhosis: First case from Turkey. , 2013, ss.546 - 548. |
| AMA | biyik m,UÇAR R,GÜNGÖR G,ÇAKIR ÖZER Ö,ESEN H,AKSAN S,ATASEVEN H,DEMİR A Alström syndrome with liver cirrhosis: First case from Turkey. . 2013; 546 - 548. |
| Vancouver | biyik m,UÇAR R,GÜNGÖR G,ÇAKIR ÖZER Ö,ESEN H,AKSAN S,ATASEVEN H,DEMİR A Alström syndrome with liver cirrhosis: First case from Turkey. . 2013; 546 - 548. |
| IEEE | biyik m,UÇAR R,GÜNGÖR G,ÇAKIR ÖZER Ö,ESEN H,AKSAN S,ATASEVEN H,DEMİR A "Alström syndrome with liver cirrhosis: First case from Turkey." , ss.546 - 548, 2013. |
| ISNAD | biyik, murat vd. "Alström syndrome with liver cirrhosis: First case from Turkey". (2013), 546-548. |
| APA | biyik m, UÇAR R, GÜNGÖR G, ÇAKIR ÖZER Ö, ESEN H, AKSAN S, ATASEVEN H, DEMİR A (2013). Alström syndrome with liver cirrhosis: First case from Turkey. Turkish Journal of Gastroenterology, 24(6), 546 - 548. |
| Chicago | biyik murat,UÇAR Ramazan,GÜNGÖR Gökhan,ÇAKIR ÖZER Özlem,ESEN Hasan,AKSAN Serkan,ATASEVEN Hüseyin,DEMİR ALİ Alström syndrome with liver cirrhosis: First case from Turkey. Turkish Journal of Gastroenterology 24, no.6 (2013): 546 - 548. |
| MLA | biyik murat,UÇAR Ramazan,GÜNGÖR Gökhan,ÇAKIR ÖZER Özlem,ESEN Hasan,AKSAN Serkan,ATASEVEN Hüseyin,DEMİR ALİ Alström syndrome with liver cirrhosis: First case from Turkey. Turkish Journal of Gastroenterology, vol.24, no.6, 2013, ss.546 - 548. |
| AMA | biyik m,UÇAR R,GÜNGÖR G,ÇAKIR ÖZER Ö,ESEN H,AKSAN S,ATASEVEN H,DEMİR A Alström syndrome with liver cirrhosis: First case from Turkey. Turkish Journal of Gastroenterology. 2013; 24(6): 546 - 548. |
| Vancouver | biyik m,UÇAR R,GÜNGÖR G,ÇAKIR ÖZER Ö,ESEN H,AKSAN S,ATASEVEN H,DEMİR A Alström syndrome with liver cirrhosis: First case from Turkey. Turkish Journal of Gastroenterology. 2013; 24(6): 546 - 548. |
| IEEE | biyik m,UÇAR R,GÜNGÖR G,ÇAKIR ÖZER Ö,ESEN H,AKSAN S,ATASEVEN H,DEMİR A "Alström syndrome with liver cirrhosis: First case from Turkey." Turkish Journal of Gastroenterology, 24, ss.546 - 548, 2013. |
| ISNAD | biyik, murat vd. "Alström syndrome with liver cirrhosis: First case from Turkey". Turkish Journal of Gastroenterology 24/6 (2013), 546-548. |
