Yineleyen Anjiyoödemin Ender Nedeni: Herediter Anjiyoodem

Year 2013, , 167 - 170, 01.10.2013

Deniz Özçeker Zeynep Tamay Nermin Güler

https://doi.org/10.5222/j.child.2013.167

Abstract

Herediter anjiyoödem HA ; yineleyen anjiyoödem atakları ile seyreden C1 inhibitör eksikliğine veya fonksiyon bozuk- luğuna bağlı gelişen otozomal dominant kalıtılan bir has- talıktır. Her iki cinste de eşit oranda görülen hastalığın prevalansının 50.000 ila 100.000 doğumda bir olduğu tah- min edilmektedir. Anjiyoödem en sık ekstremiteler, orofa- rinkste ve visseral organlarda görülür. Hastalığın 3 tipi tanımlanmıştır. En sık görülen Tip 1 HA’dir; hastaların %80-85’ini kapsar ve C1 inhibitör düzeyi düşük ve fonksi- yonu bozuktur. HA Tip 2’de ise C1 inhibitör düzeyi normal veya artmış iken, fonksiyonu bozuktur. Son yıllarda, özellik- le gebelerde ve östrojen tedavisi almakta olan kadınlarda Tip 3 HA tanımlanmıştır. Burada yineleyen anjiyoödem ve karın ağrısı ile gelen ve HA Tip 2 tanısı konulan 6 yaşında bir erkek çocuğu sunulmuştur. HA tanısından şüphelenildi- ğinde, C1INH düzeyi normal bulunduğunda C1INH fonksi- yonunun da ölçülmesi önemlidir

Keywords

C1 estaraz, çocuk, herediter anjioödem

Hereditary Angioedema: A Rare Cause of Recurrent Angioedema

Abstract

Hereditary angioedema HA is a rare, autosomal-dominant genetic disorder presenting with recurrent attacks of angi- oedema which develop secondary deficiency of CI inhibi- tors or related dysfunction. Men and women are equally affected. The prevalence of HA is predicted to be 1 per 50,000 to 150,000 in the general population. The most commonly involved organs include the extremites, face, neck, upper respiratory tract, genital region and the gast- rointestinal tract. There are 3 types of HAE. Type I HA is defined by low plasma levels of a normal C1-INH protein. Type II HA is characterized by the presence of normal or elevated levels of a dysfunctional C1-INH. Type III HA has been recently identified as an estrogen-dependent inherited form of angioedema occurring mainly in women. Herein, a 6-year-old boy who presented with recurrent episodes of angioedema and abdominal pain and diagnosed with type II HA is reported. It is important to highlight the measure- ment of C1INH function in patients with suspect but with normal C1INH levels

Keywords

C1 esterase, child, hereditary angioedema

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