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Young 综合征

Young syndrome

ORPHA:3471疾病

定义 英文原文(暂无中文)

A rare respiratory disease characterized by recurrent sinopulmonary infections and bronchiectasis predominantly in the lower lung fields, as well as azoospermia with reduced fertility, due to production of thick, viscous mucus which causes mild airflow obstruction in the respiratory tract and obstruction of sperm transport in the genital tract. Patients commonly present in adulthood. Sweat gland and pancreatic function are normal. The cause of the syndrome is unknown, however mercury exposure had been proposed as a potential cause.

别名

无精子症-窦肺感染综合征

基本事实

遗传方式
未知
发病年龄
成年期

临床表型 14

极常见 99–80%4

  • 生育能力下降 HP:0000144
  • 梗阻性无精症 HP:0011962
  • 复发性支气管炎 HP:0002837
  • 反复鼻窦及肺感染 HP:0005425

常见 79–30%8

  • 气道阻塞 HP:0006536
  • 支气管扩张 HP:0002110
  • 慢性咳嗽 HP:0034315
  • 慢性鼻炎 HP:0002257
  • 慢性鼻窦炎 HP:0011109
  • 鼻息肉 HP:0100582
  • 反复发作型中耳炎 HP:0000403
  • 用力肺活量降低 HP:0032341

偶见 29–5%2

  • 听力受损 HP:0000365
  • 男性不育 HP:0003251

外部标识与链接

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学:Orphanet(CC BY 4.0)
  • 中文病名:Orphanet 中文包,冻结于 2020-06-01
  • 表型中文标签:HPO 简体中文翻译(CHPO 上游成果)