Abstract：
This review focuses on Pulmonary Alveolar Microlithiasis (PAM), an autosomal recessive genetic disorder characterized by calcium crystal deposits (microliths) resulting from loss of function of the SLC34A2 gene. PAM is a rare disease with approximately 1100 reported cases globally. The historical context of its discovery and the genetic, epidemiological, and pathophysiological aspects are discussed. PAM falls under interstitial lung diseases and is associated with pulmonary hypertension (PH), primarily categorized as Group 3 PH. The clinical manifestations, diagnostic approaches, and challenging aspects of treatment are explored. A clinical case of PAM with severe pulmonary hypertension is presented, emphasizing the importance of comprehensive evaluation and the potential benefits of phosphodiesterase-5 inhibitors (PDE5i) therapy. Despite limited therapeutic options and challenging diagnosis, this review sheds light on recent developments and emerging treatments for PAM and associated pulmonary hypertension.
摘要：
这篇综述的重点是肺泡微石症（PAM），一种常染色体隐性遗传疾病，其特征是由于SLC34A2基因的功能丧失而导致的钙晶体沉积（微石）。PAM是一种罕见疾病，全球报告病例约1100例。它的发现和遗传的历史背景，流行病学,和病理生理方面进行了讨论。PAM属于间质性肺疾病，并与肺动脉高压（PH）有关，主要归类为第3组PH。临床表现,诊断方法，并探讨了治疗的挑战性方面。介绍了一例PAM伴严重肺动脉高压的临床病例，强调全面评估的重要性和磷酸二酯酶-5抑制剂（PDE5i）治疗的潜在益处。尽管有限的治疗选择和具有挑战性的诊断，本文综述了PAM和相关肺动脉高压的最新进展和新兴治疗方法。
