SP-B缺陷所致新生儿急性呼吸窘迫
Neonatal acute respiratory distress syndrome due to SP-B deficiency
定义 英文原文（暂无中文）
A rare genetic interstitial lung disease characterized by progressive and life-threatening refractory respiratory distress caused by surfactant deficiency which is particularly prevalent in immature lungs. It is primarily observed in preterm infants but can also affect full-term neonates. In most cases, it is fatal within the first months of life. Lung biopsy reveals changes that are characteristic of pulmonary alveolar proteinosis including interstitial fibrosis and inflammation, as well as accumulation of lipid-rich, eosinophilic, proteinaceous, granular material consisting of desquamated type II pneumocytes and foamy macrophages within the alveolar air spaces.
别名
表面活化蛋白B缺陷所致新生儿急性呼吸窘迫
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SFTPB | surfactant protein B | Disease-causing germline mutation(s) (loss of function) in |
临床表型 11
极常见 99–80%4
- 肺间质形态异常 HP:0006530
- 肺泡蛋白沉积症 HP:0006517
- 新生儿呼吸窘迫 HP:0002643
- 呼吸过速 HP:0002789
常见 79–30%3
- 肺动脉高压 HP:0002092
- 肺浸润 HP:0002113
- 肺部模糊影 HP:0031457
偶见 29–5%4
- 慢性肺病 HP:0006528
- 间质性肺炎 HP:0006515
- 右心室肥厚 HP:0001667
- 新生儿自发性气胸 HP:0004876
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）