肺泡微石症一家系三例临床分析

Three cases of pulmonary alveolar microlithiasis in a family and clinical analysis

目的提高对肺泡微石症的认识。方法分析一家系3例肺泡微石症患者的临床表现、实验室检查、影像学特点并结合文献进行复习。结果该3例肺泡微石症患者具有典型的临床表现：渐进性呼吸困难、咳嗽、家族聚集现象；胸部X线和CT显示两肺满布小结石状高密度影，两肺中下及后部多。此3例患者的发病机制不完全清楚，可能与其父母近亲结婚有关，治疗上无有效的手段。结论对有家族史、影像学提示两肺满布小结石状高密度影患者应考虑肺泡微石症。

Objective To describe the characteristics of 3 cases of pulmonary alveolar microlithiasis in a family, and therefore to improve the understanding of the disease. Methods To analyze the clinical, laboratory and radiological data of three patients with pulmonary alveolar microlithiasis in a family and the relevant literatures were reviewed. Results There was a typical manifestation in these three cases of pulmonary alveolar microlithiasis： progressive dyspnoea, cough, family history. Chest X-ray and computed tomography demonstrate： the pulmones was full of high density reflection of intra-alveolar microliths especially in middle-lower lobe and posterior lobe. The etiology of these three cases is still unknown, consanguineous marriage of parents is possible reason. There was not effective therapies to them. Conclusion Pulmonary alveolar microlithiasis is a disease without clear known etiology and effective therapy. For a patient with radiological features of high density intra-alveolar microliths and a positive family history, the diagnosis should be highly suspected.