• 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

家族性自发性气胸

Familial spontaneous pneumothorax.

作者信息

Wilson W G, Aylsworth A S

出版信息

Pediatrics. 1979 Aug;64(2):172-5.

PMID:471607
Abstract

A family is described in which four persons in three generations suffered spontaneous pneumothoraces: a newborn, an infant, an adolescent, and an adult. Review of the literature reveals 61 reports of familial spontaneous pneumothorax in 22 families. The ratio of male to female cases is approximately 1.8. Affected parents and affected children (including affected fathers and sons) are seen in ten families, while affected siblings with unaffected parents are noted in 13 families. Consanguinity has not been reported. Although autosomal dominant inheritance has been suggested as an explanation of familial spontaneous pneumothorax, available pedigree data are not adequate for statistical analysis. Physicians should be aware of the familial occurrence of spontaneous pneumothorax so that members of such families may be appropriately managed when problems arise.

摘要

本文描述了一个家族,该家族三代人中的四人患有自发性气胸,分别是一名新生儿、一名婴儿、一名青少年和一名成年人。文献回顾显示,在22个家族中有61例家族性自发性气胸的报告。男性病例与女性病例的比例约为1.8。在10个家族中观察到受影响的父母和受影响的子女(包括受影响的父子),而在13个家族中注意到父母未受影响的受影响兄弟姐妹。尚未有近亲结婚的报告。虽然常染色体显性遗传被认为是家族性自发性气胸的一种解释,但现有的系谱数据不足以进行统计分析。医生应该意识到自发性气胸的家族性发生,以便在出现问题时对这类家族的成员进行适当的处理。

相似文献

1
Familial spontaneous pneumothorax.家族性自发性气胸
Pediatrics. 1979 Aug;64(2):172-5.
2
Nonsense mutations in folliculin presenting as isolated familial spontaneous pneumothorax in adults.卵泡抑素中的无义突变表现为成人孤立性家族性自发性气胸。
Am J Respir Crit Care Med. 2005 Jul 1;172(1):39-44. doi: 10.1164/rccm.200501-143OC. Epub 2005 Apr 1.
3
On the inheritance of primary spontaneous pneumothorax.
Am J Med Genet. 1991 Aug 1;40(2):155-8. doi: 10.1002/ajmg.1320400207.
4
[Familial spontaneous pneumothorax in three siblings including identical twins].
Nihon Kyobu Shikkan Gakkai Zasshi. 1989 Nov;27(11):1283-7.
5
Familial neonatal pneumothorax associated with transient tachypnea of the newborn.与新生儿短暂性呼吸急促相关的家族性新生儿气胸。
Pediatr Pulmonol. 2003 Jul;36(1):69-72. doi: 10.1002/ppul.10283.
6
[Studies on HLA typing in a family line with spontaneous pneumothorax].
Kyobu Geka. 1991 Mar;44(3):211-4.
7
Familial duodenal atresia: a report of two families and review.
Am J Med Genet. 1989 Nov;34(3):442-4. doi: 10.1002/ajmg.1320340322.
8
The Wiedemann-Beckwith syndrome: pedigree studies on five families with evidence for autosomal dominant inheritance with variable expressivity.维德曼-贝克威思综合征:对五个家族的系谱研究,证据表明其为具有可变表达性的常染色体显性遗传。
Am J Med Genet. 1986 May;24(1):41-55. doi: 10.1002/ajmg.1320240107.
9
Familial spontaneous pneumothorax-report of seven cases in two families.
Gaoxiong Yi Xue Ke Xue Za Zhi. 1992 Jul;8(7):390-4.
10
[Familial spontaneous pneumothorax].
Grudn Khir. 1976 Mar-Apr(2):54-7.

引用本文的文献

1
A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax.家族性原发性自发性气胸患者中一种新的 FLCN 突变。
Mol Genet Genomic Med. 2019 Dec;7(12):e1003. doi: 10.1002/mgg3.1003. Epub 2019 Oct 18.
2
The Genetics of Pneumothorax.气胸的遗传学。
Am J Respir Crit Care Med. 2019 Jun 1;199(11):1344-1357. doi: 10.1164/rccm.201807-1212CI.
3
Familial spontaneous pneumothorax in neonates.新生儿家族性自发性气胸
Indian J Pediatr. 2005 May;72(5):445-7. doi: 10.1007/BF02731747.
4
Familial spontaneous pneumothorax in three generations and its HLA.
Jpn J Thorac Cardiovasc Surg. 2003 Sep;51(9):456-8. doi: 10.1007/BF02719603.
5
Familial spontaneous pneumothorax.家族性自发性气胸
Thorax. 1986 Dec;41(12):969-70. doi: 10.1136/thx.41.12.969.