论文部分内容阅读
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 male, 58 years old. Facial swelling and gradually increased 5d, with breathing difficulties 1d. The right side of the patient’s face and the right eyelid and upper and lower lip large area swelling, ill-defined. Right wrist ulnar see about 3.0cm × 4.0cm size of the tumor, non-depression, no tenderness. Diagnosis: Hereditary angioedema (HAE). The pedigree analyzed that the disease is a rare autosomal genetic disease caused by mutations in the C1 esterase inhibitor gene on chromosome 11 with a low incidence and is characterized by episodic, recurrent subcutaneous and submucosal edema , Often due to the complexity and diversity of clinical manifestations and the lack of specific performance and difficult to confirm the diagnosis.