Hakan TURAN, Mesut OKUR, Ersoy ACER, Zehra GÜRLEVİK, Mehmet Emin YANIK

Bir çocuk olgu nedeniyle herediter anjioödem

Herediter anjioödem, C1-esteraz inhibitörünün konjenital eksikliğinden kaynaklanan, otozomal dominant kalıtımlı, nadir görülen ve yaşamı tehdit edebilen bir hastalıktır. Tüm anjioödem vakalarının yaklaşık olarak %2'sinden sorumludur. Subkutan veya submukozal bölgede rekürren anjioödem atakları ile karakterizedir. Burada şiddetli ekstremite ödemiyle başvuran ve taze donmuş plazma ile tedavi edilen herediter anjioödemli 5 yaşında bir kız hasta sunulmuş ve bu vesileyle hastalığın kliniği ve tedavi yaklaşımları gözden geçirilmiştir.

Anahtar Kelimeler:

Herediter anjioödem, taze donmuş plazma, tedavi

Hereditary angioedema on the occasion of a pediatric case

Hereditary angioedema is a rare and life threatening autosomal-dominant disorder which results from the congenital deficiency of C1- esterase inhibitor. It is responsible for approximately 2% of all angioedema cases. Recurring angioedema attacks that involve subcutaneous and submucosal areas are the hallmarks of hereditary angioedema. Here, we review the clinical findings and therapeutic approaches of the disease by presenting a 5-years old female patient with severe extremity edema who was diagnosed as hereditary angioedema and treated with fresh frozen plasma.

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