• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

同一家族中的遗传性血管性水肿和夏科-马里-图思病。

Hereditary angioneurotic edema and Charcot-Marie-Tooth disease in the same family.

作者信息

Fernandez P G, Day J H, Simpson N E, Zachariah P K

出版信息

Can Med Assoc J. 1978 Sep 9;119(5):455-8.

PMID:688147
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1818506/
Abstract

In one family two genetic diseases were transmitted as autosomal dominant traits; hereditary angioneurotic edema was inherited from the paternal side and Charcot-Marie Tooth disease from the maternal side of the family. The conditions occurred separately in 8 and 11 members respectively and together (an exceedingly rare occurrence) in 3. Of six siblings, two girls and four boys, all had Charcot-Marie-Tooth disease, and three, the two girls and one of the boys, also had hereditary angioneurotic edema.

摘要

在一个家族中,两种遗传病以常染色体显性特征遗传;遗传性血管神经性水肿来自家族父系,而夏科-马里-图斯病来自家族母系。这两种病症分别出现在8名和11名家族成员中,同时出现(极为罕见)的有3人。在六个兄弟姐妹中,两个女孩和四个男孩都患有夏科-马里-图斯病,其中三个,即两个女孩和一个男孩,还患有遗传性血管神经性水肿。

相似文献

1
Hereditary angioneurotic edema and Charcot-Marie-Tooth disease in the same family.同一家族中的遗传性血管性水肿和夏科-马里-图思病。
Can Med Assoc J. 1978 Sep 9;119(5):455-8.
2
A family with Charcot-Marie-Tooth disease and Leber's optic atrophy.
Proc Aust Assoc Neurol. 1975;12:23-5.
3
Palmoplantar keratoderma and Charcot-Marie-Tooth disease.
Arch Dermatol. 1980 Jul;116(7):789-90.
4
[Familial studies of patients with hereditary angioedema].[遗传性血管性水肿患者的家族研究]
Vutr Boles. 1988;27(4):62-5.
5
Charcot-Marie-Tooth disease with sensorineural hearing loss--an autosomal dominant trait.
Birth Defects Orig Artic Ser. 1982;18(3B):223-8.
6
[Charcot-Marie-Tooth disease. Peroneal muscular atrophy].
Tidsskr Nor Laegeforen. 1990 Oct 10;110(24):3110-5.
7
Pathogenesis of Charcot-Marie-Tooth disease. Gait analysis and electrophysiologic, genetic, histopathologic, and enzyme studies in a kinship.夏科-马里-图思病的发病机制。一个家族中的步态分析以及电生理、遗传学、组织病理学和酶学研究
Clin Orthop Relat Res. 1984 Apr(184):223-35.
8
[Danazol (Danocrine) in hereditary angioneurotic edema].[达那唑(丹那唑)用于遗传性血管性水肿]
Ugeskr Laeger. 1980 Oct;142(44):2901-2.
9
Pathogenesis of pes cavus in Charcot-Marie-Tooth disease.夏科-马里-图思病中高弓足的发病机制。
Clin Orthop Relat Res. 1983 May(175):173-8.
10
Variation of phenotype in Charcot-Marie-Tooth disease.
Neuropadiatrie. 1979 Aug;10(3):290-5. doi: 10.1055/s-0028-1085331.

引用本文的文献

1
Successful use of daily intravenous infusion of C1 esterase inhibitor concentrate in the treatment of a hereditary angioedema patient with ascites, hypovolemic shock, sepsis, renal and respiratory failure.每日静脉输注C1酯酶抑制剂浓缩物成功用于治疗一名患有腹水、低血容量性休克、败血症、肾和呼吸衰竭的遗传性血管性水肿患者。
Allergy Asthma Clin Immunol. 2014 Dec 11;10(1):62. doi: 10.1186/s13223-014-0062-9. eCollection 2014.
2
Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond.遗传性和获得性血管性水肿:问题与进展:第三届C1酯酶抑制剂缺乏症研讨会及后续会议论文集
J Allergy Clin Immunol. 2004 Sep;114(3 Suppl):S51-131. doi: 10.1016/j.jaci.2004.06.047.

本文引用的文献

1
Severe sensory changes, and trophic disorder, in peroneal muscular atrophy (Charcot-Marie-Tooth type).
AMA Arch Neurol Psychiatry. 1952 Jan;67(1):1-22. doi: 10.1001/archneurpsyc.1952.02320130007001.
2
HEREDITARY ANGIONEUROTIC EDEMA: TWO GENETIC VARIANTS.遗传性血管性水肿:两种基因变异体。
Science. 1965 May 14;148(3672):957-8. doi: 10.1126/science.148.3672.957.
3
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.
4
Pathological changes in muscle biopsies from patients with peroneal muscular atrophy.腓骨肌萎缩症患者肌肉活检的病理变化。
Brain. 1960 Dec;83:631-7. doi: 10.1093/brain/83.4.631.
5
Structural polymorphism of the fourth component of human complement.人类补体第四成分的结构多态性
J Clin Invest. 1969 Dec;48(12):2283-92. doi: 10.1172/JCI106194.
6
Nerve conduction studies in Charcot-Marie-Tooth disease.夏科-马里-图思病的神经传导研究
Acta Neurol Scand. 1972;48(2):176-90. doi: 10.1111/j.1600-0404.1972.tb07539.x.
7
The stoichiometric measurement of the serum inhibition of the first component of complement by the inhibition of immune hemolysis.通过免疫溶血抑制来进行血清对补体第一成分抑制作用的化学计量测量。
J Immunol. 1968 Jun;100(6):1154-64.
8
Fatty acid metabolism in multiple sclerosis.多发性硬化症中的脂肪酸代谢
Biochem Soc Symp. 1972(35):103-11.
9
Hereditary angioedema and "familial" lupus erythematosus in identical twin boys.同卵双胞胎男孩中的遗传性血管性水肿和“家族性”红斑狼疮。
Am J Med. 1974 Mar;56(3):406-11. doi: 10.1016/0002-9343(74)90623-8.
10
Hereditary angio-oedema: a review with particular reference to pathogenesis and treatment.遗传性血管性水肿:特别涉及发病机制与治疗的综述
Clin Allergy. 1971 Jun;1(2):221-33. doi: 10.1111/j.1365-2222.1971.tb03021.x.