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遗传性血管性水肿:并非过敏反应。

Hereditary angioedema: not an allergy.

作者信息

Bhivgade Sanjay, Melkote Shubha, Ghate Smita, Jerajani H R

机构信息

Department of Dermatology, Lokmanya Tilak Municipal Medical College and General Hospital, Sion, Mumbai, India.

出版信息

Indian J Dermatol. 2012 Nov;57(6):503. doi: 10.4103/0019-5154.103081.

DOI:10.4103/0019-5154.103081
PMID:23248378
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3519267/
Abstract

Hereditary angioedema is a genetic disorder due to a deficiency or malfunction of C1 esterase inhibitor. We herein describe a case of 25-year-old male who presented with swelling over face since one day. There was history of similar episodes since two years with gradual subsidence of swelling without any treatment. Investigations revealed grossly reduced complement C4 and C1 esterase inhibitor level. Patient was diagnosed to have hereditary angioedema type 1 and started on stanozolol 2 mg three times a day with no recurrence in one year of follow-up. Hereditary angioedema resembles angioedema of an allergic reaction. However, the cause is different.

摘要

遗传性血管性水肿是一种由于C1酯酶抑制剂缺乏或功能异常引起的遗传性疾病。我们在此描述一例25岁男性患者,该患者自一天前开始出现面部肿胀。两年以来有类似发作史,肿胀在未经任何治疗的情况下逐渐消退。检查发现补体C4和C1酯酶抑制剂水平显著降低。患者被诊断为1型遗传性血管性水肿,并开始每天三次服用2毫克司坦唑醇,随访一年未复发。遗传性血管性水肿类似于过敏反应性血管性水肿。然而,其病因不同。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5984/3519267/304547855e9e/IJD-57-503c-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5984/3519267/56b11474d554/IJD-57-503c-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5984/3519267/304547855e9e/IJD-57-503c-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5984/3519267/56b11474d554/IJD-57-503c-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5984/3519267/304547855e9e/IJD-57-503c-g002.jpg

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本文引用的文献

1
A BIOCHEMICAL ABNORMALITY IN HEREDIATRY ANGIONEUROTIC EDEMA: ABSENCE OF SERUM INHIBITOR OF C' 1-ESTERASE.遗传性血管神经性水肿中的一种生化异常:血清C1酯酶抑制剂缺失
Am J Med. 1963 Jul;35:37-44. doi: 10.1016/0002-9343(63)90162-1.
2
Hereditary angioedema with normal C1-inhibitor activity in women.C1抑制剂活性正常的女性遗传性血管性水肿
Lancet. 2000 Jul 15;356(9225):213-7. doi: 10.1016/S0140-6736(00)02483-1.
3
Immunoregulatory disorders associated with hereditary angioedema. I. Clinical manifestations of autoimmune disease.与遗传性血管性水肿相关的免疫调节紊乱。I. 自身免疫性疾病的临床表现。
J Allergy Clin Immunol. 1986 May;77(5):749-57. doi: 10.1016/0091-6749(86)90424-0.
4
Long-term prophylaxis with C1-inhibitor (C1 INH) concentrate in patients with recurrent angioedema caused by hereditary and acquired C1-inhibitor deficiency.长期使用C1抑制剂(C1 INH)浓缩物对遗传性和获得性C1抑制剂缺乏所致复发性血管性水肿患者进行预防治疗。
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5
Hereditary and acquired C1-inhibitor deficiency: biological and clinical characteristics in 235 patients.遗传性和获得性C1抑制剂缺乏症:235例患者的生物学和临床特征
Medicine (Baltimore). 1992 Jul;71(4):206-15. doi: 10.1097/00005792-199207000-00003.
6
Reticulate erythema--a prodrome in hereditary angio-oedema.网状红斑——遗传性血管性水肿的前驱症状。
Br J Dermatol. 1979 Nov;101(5):549-52. doi: 10.1111/j.1365-2133.1979.tb11884.x.