中国麻风皮肤病杂志 ›› 2025, Vol. 41 ›› Issue (11): 780-784.doi: 10.12144/zgmfskin202511780

• 论著 • 上一篇    下一篇

II型遗传性血管性水肿一家系SERPING1基因突变检测

朱兰玉,周昆丽,蔡良奇,赵小燕   

  1. 厦门大学附属第一医院皮肤科，福建厦门，361003
  • 出版日期:2025-11-15 发布日期:2025-11-07

Mutation detection of SERPING1 gene in a pedigree with type II hereditary angioedema

ZHU Lanyu, ZHOU Kunli, CAI Liangqi, ZHAO Xiaoyan   

  1. Department of Dermatology, The First Affiliated Hospital of Xiamen University, Xiamen 361003, China
  • Online:2025-11-15 Published:2025-11-07

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摘要： 目的：明确一II型遗传性血管性水肿（HAE-II）家系的致病基因。方法：收集家系临床资料,对先证者及1名疑似HAE的家系成员采用ELISA法进行补体C4浓度、C1-INH浓度及功能检测。对先证者及2名家系成员进行全外显子测序，确定候选基因变异位点并进行Sanger测序验证。结果：调查该家系连续3代10人，其中4人有可疑临床表现，包括先证者、先证者表哥、表姐、姨母。先证者及表姐的血清C4、C1-INH功能均低于正常值下限，C1-INH浓度无下降，确诊HAE-II。基因检测发现先证者及其姨母均检测到丝氨酸蛋白酶抑制剂G1（SERPING1）基因的1个杂合变异：c.1396C＞T（p.R466C）。给予先证者拉那利尤单抗治疗，随访1年，水肿未发作。结论：SERPING1基因的杂合变异 c.1396C＞T为该家系出现遗传性血管性水肿的原因，拉那利尤单抗治疗可取得良好效果。

关键词: 遗传性血管性水肿, 丝氨酸蛋白酶抑制剂G1, 基因突变；拉那利尤单抗

Abstract: Objective: To identify the pathogenic gene in a family with type II hereditary angioedema (HAE-II). Methods: Clinical data of the family were collected. Enzyme-linked immunosorbent assay (ELISA) was used to detect the concentrations of complement C4, C1 inhibitor (C1-INH) and C1-INH function in the proband and one family member suspected of having HAE. Whole-exome sequencing was performed on the proband and two family members to identify candidate gene mutation sites, which were then verified by Sanger sequencing. Results: A survey of 10 members across 3 consecutive generations of the family found that 4 had suspicious clinical manifestations, including the proband, the proband's cousin, cousin sister, and aunt. The serum C4 level and C1-INH function of the proband and cousin sister were lower than the lower limit of the normal range, while the C1-INH concentration did not decrease, so they were diagnosed with HAE-II. Genetic testing revealed that both the proband and his aunt carried a heterozygous mutation in the serpin family G member 1 (SERPING1) gene: c.1396C＞T (p.R466C). The proband was treated with lanadelumab, and no edema attack occurred during 1 year of follow-up. Conclusion: The heterozygous mutation c.1396C＞T in the SERPING1 gene is the cause of hereditary angioedema in this family, and lanadelumab treatment can achieve good results.

Key words: hereditary angioedema, serine protease inhibitor G1, gene mutation, lanadelumab