Steiss J O, Mayser P, Gortner L, Alzen G
Zentrum für Kinderheilkunde und Jugendmedizin, Justus-Liebig-Universität, Giessen.
Klin Padiatr. 2002 Jan-Feb;214(1):20-1. doi: 10.1055/s-2002-19918.
Hereditary deficiency of C1-esterase inhibitor (C1-INH) which clinically manifests as hereditary angioedema is a rare disorder. In previously not diagnosed cases, a fatality rate of up to 30 % has been reported. The diagnosis of C1-esterase inhibitor deficiency should not be missed in patients presenting with angioedema in the face, stem or extremities. We report the case of a 17-year-old girl with recurrent abdominal pain and swelling of the hands.
遗传性C1酯酶抑制剂（C1-INH）缺乏症临床上表现为遗传性血管性水肿，是一种罕见的疾病。在既往未诊断的病例中，报告的死亡率高达30%。对于面部、躯干或四肢出现血管性水肿的患者，不应漏诊C1酯酶抑制剂缺乏症。我们报告一例17岁反复腹痛和手部肿胀的女孩病例。
