遗传性血管性水肿1例及家系分析

A Case of Hereditary Angioedema and Pedigree Analysis

先证者男,58岁。面部肿胀并逐渐加重5d,伴呼吸困难1d。患者右侧面部及右眼睑和上下唇大面积肿胀,界不清。右手腕尺侧见约3.0cm×4.0cm大小肿块,非凹陷性,无压痛。诊断:遗传性血管性水肿(hereditary angioedema,HAE)。家系分析认为本病是一种少见的常染色体遗传病,由位于11号染色体上的C1酯酶抑制剂基因突变引起,其发病率低,以发作性、复发性皮下和黏膜下组织水肿为特征,常因临床表现复杂多样和缺乏特异性表现而难以明确诊断。

The proband was a 58-yesr-old male who presented with facial swelling for 5 days and dyspnea for 1 day. The patient had large, poorly defined swelling on his right face, right eyelid and lips. There was also a non-pitting bossing lump, sized about 3.0cm × 4.0cm on his right ulnar wrist without tenderness. The diagnosis was hereditary angioedema（HAE）. The pedigree analysis showed that HAE is an autosomal dominant inherited disease caused by deficiency of C1 esterase inhibitor （CI-INH） that results from mutations of the CI-INH gene on chromosome 11. It is a rare clinical disorder characterized by recurrent episodic subcutaneous and sub - mucosal edema. It is great difficult for clinical diagnosis because of low morbidity, non-specificity and diverse clinical manifestations.