日本的一例遗传性血管性水肿家族病例。

A familial case of hereditary angioneurotic edema in Japan.

作者信息

Yamato H, Nakashima Y, Ninomiya K, Sakurai S, Kuroiwa A

机构信息

Second Department of Internal Medicine, University of Occupational and Environmental Health, School of Medicine, Kitakyushu, Japan.

出版信息

Intern Med. 1992 Mar;31(3):353-6. doi: 10.2169/internalmedicine.31.353.

DOI:10.2169/internalmedicine.31.353

PMID:1611187

Abstract

A 53-year-old man was admitted with impairment of breathing following laryngeal edema. Serum levels of CH50 (22 U/ml), C4 (3 mg/dl), C1-INH protein (10.6 mg/dl) and C1-INH activity (LT 25%) were low. Complement study of the patient's family members revealed that he was one of 5 patients in 3 generations with hereditary angioneurotic edema (HANE). Administration of the androgen derivatives Danazol (600 mg/day) and Oxymetholone (30 mg/day) effectively increased serum levels of C1-INH activity and C4. Though eruption and hepatic dysfunction attributable to administration of the drugs appeared, these side effects improved after withdrawal of the drugs. Subsequently, the treatment with Danazol at a low dose (100 mg/day) was resumed, and the patient has had no episodes of edema for the past 3 years. Regarding the familial cases of HANE, fewer than 20 have been reported in Japan.

摘要

一名53岁男性因喉水肿导致呼吸障碍入院。血清CH50水平（22 U/ml）、C4水平（3 mg/dl）、C1-INH蛋白（10.6 mg/dl）和C1-INH活性（低于25%）均较低。对患者家庭成员的补体研究显示，他是三代人中5名患有遗传性血管性水肿（HANE）的患者之一。给予雄激素衍生物达那唑（600 mg/天）和羟甲烯龙（30 mg/天）可有效提高血清C1-INH活性和C4水平。尽管出现了因用药引起的皮疹和肝功能障碍，但停药后这些副作用有所改善。随后，恢复了低剂量达那唑（100 mg/天）治疗，该患者在过去3年中未出现水肿发作。关于日本的HANE家族病例，报告的病例不到20例。