实用临床医药杂志2026，Vol.30Issue(10)：82-88,99,8.DOI:10.7619/jcmp.20261107
KNG1基因突变致高分子量激肽原缺乏症的实验室诊断逻辑分析及文献复习
Laboratory diagnostic strategy and literature review of high molecular weight kininogen deficiency caused by KNG1 gene mutation
摘要
Abstract
Objective High molecular weight kininogen(HMWK)deficiency is an extremely rare autosomal recessive coagulation disorder.Patients are often identified incidentally due to marked-ly prolonged activated partial thromboplastin time(APTT)on screening.This study reported a rare case caused by a homozygous variant in exon 5 of the KNG1 gene and comparatively analyzed its labo-ratory characteristics with those of other coagulation disorders.Methods The clinical data of a pa-tient with homozygous KNG1 c.628_629del variant(HMWK proband)were analyzed.Patients with inhibitor-positive hemophilia A(HA),inhibitor-negative hemophilia B(HB),and lupus anticoagu-lant(LA)positivity in the same period were enrolled as controls.Coagulation parameters,coagulation factor activities,coagulation factor inhibitors,APTT mixing studies,and thromboelastography(TEG)parameters were compared among groups.Results The HMWK proband presented with markedly prolonged APTT(＞120 s),but without reduced coagulation factor activities,and no FV Ⅲ:C or FIX:C inhibitors were detected.The APTT was fully corrected immediately and after 2-hour incubation upon mixing with control plasma,demonstrating a typical correction pattern consistent with factor de-ficiency.TEG revealed highly abnormal R time,K time,α angle,and maximum amplitude(MA),all of which supported the diagnosis of contact activation factor deficiency.Genetic testing ultimately confirmed a homozygous deletion variant in exon 5 of the KNG1 gene.Conclusion The KNG1 c.628_629del variant leads to HMWK deficiency.A combination of routine coagulation tests,coag-ulation factor assays,inhibitor screening,APTT mixing studies,and TEG can effectively identify this rare disorder.关键词
高分子量激肽原/KNG1基因/纯合子突变/外显子/活化部分凝血活酶时间/血栓弹力图/血友病A/狼疮抗凝物Key words
high molecular weight kininogen/KNG1 gene/homozygous mutation/exon/acti-vated partial thromboplastin time/thromboelastography/hemophilia A/lupus anticoagulant分类
医药卫生引用本文复制引用
沈连军,吴蔚,吉薇,王方方,孙梅,朱淼,孙幸..KNG1基因突变致高分子量激肽原缺乏症的实验室诊断逻辑分析及文献复习[J].实用临床医药杂志,2026,30(10):82-88,99,8.基金项目
2024年国家自然科学基金青年基金(82405499) （82405499）
江苏省卫健委医学科研课题面上项目(BK20250627) （BK20250627）
2025年扬州市级计划-社会发展课题(YZ2025077) （YZ2025077）
苏北医院青年托举项目(SBQN25001) （SBQN25001）
