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Ep 133: A 45-Year-Old with Difficulty Climbing Stairs
2025/2/13
Harrison's PodClass: Internal Medicine Cases and Board Prep
C
Charlie Wiener
K
Kathy Handy
Charlie Wiener: 作为医生，我接诊了一位45岁的男性患者，他主诉两年来爬楼梯时呼吸困难的情况日益加重。患者既往热爱运动，但近年来活动受限，尤其爬楼梯时症状明显。他的父亲和叔叔都有肺纤维化的病史，这让我高度怀疑是原发性肺部疾病，甚至可能是肌肉问题导致了他的症状。通过检查，我们发现患者存在限制性通气功能障碍和严重的弥散功能障碍，胸部CT显示间质性肺纤维化。考虑到患者的年龄和家族史，我开始怀疑是否存在端粒相关的问题。
Kathy Handy: 作为医生，我为这位患者进行了体格检查，发现他静息状态下氧饱和度正常，但爬楼梯后氧饱和度下降至86%。此外，患者还出现了早发性白发。肺功能测试显示限制性通气功能障碍和严重的弥散功能障碍，胸部CT显示间质性肺纤维化。基于这些发现，我认为应该检测患者的端粒长度。端粒是染色体末端的保护结构，端粒缩短与多种疾病有关，包括特发性肺纤维化。端粒疾病可能导致肺部再生能力下降，从而引起肺纤维化。因此，对于年轻或有家族史的特发性肺纤维化患者，检测端粒长度非常重要。
Deep Dive
A 45-year-old man presents with worsening shortness of breath and difficulty climbing stairs. His family history includes pulmonary fibrosis. Initial tests reveal a restrictive lung defect and interstitial fibrosis on CT scan, leading to the central question of the episode.
- 45-year-old male with 2-year history of worsening dyspnea on exertion
- Family history of pulmonary fibrosis
- Restrictive lung defect, decreased DLCO, interstitial fibrosis on CT scan
Shownotes Transcript