Mathavan Akash, Mathavan Akshay, Vahdatpour Cyrus, Eagan Christina, Kalra Saminder Singh, Ataya Ali
College of Medicine University of Florida Gainesville Florida USA.
Division of Pulmonary, Critical Care and Sleep Medicine University of Florida Gainesville Florida USA.
Pulm Circ. 2022 Apr 1;12(2):e12098. doi: 10.1002/pul2.12098. eCollection 2022 Apr.
Proteus syndrome is a rare progressive multisystem disorder characterized by asymmetric, disproportionate overgrowth of bone, skin, and other tissue types. Molecular pathogenesis has been identified as somatic activating mutations of the AKT1 gene. The presentation of Proteus syndrome is exceptionally variable. Respiratory complications include emphysematous lung disease and predisposition to pulmonary emboli, the latter of which is a significant source of mortality. Pulmonary hypertension due to longstanding hypoxic lung disease as well as chronic thromboembolic events has been observed in this population. In contrast, precapillary pulmonary arterial hypertension in the absence of chronic pulmonary emboli and parenchymal lung disease has not been described in the literature on patients with Proteus syndrome. We report such a case in a young patient with Proteus syndrome, reviewing subsequent management and emphasizing the need for a detailed investigation of dyspnea.
变形综合征是一种罕见的进行性多系统疾病，其特征为骨骼、皮肤和其他组织类型的不对称、不成比例的过度生长。分子发病机制已被确定为AKT1基因的体细胞激活突变。变形综合征的表现极为多样。呼吸系统并发症包括肺气肿性肺病和易患肺栓塞，后者是一个重要的死亡原因。在这一人群中已观察到由于长期缺氧性肺病以及慢性血栓栓塞事件导致的肺动脉高压。相比之下，在变形综合征患者的文献中尚未描述在无慢性肺栓塞和实质性肺病情况下的毛细血管前肺动脉高压。我们报告了一名患有变形综合征的年轻患者的此类病例，回顾了后续治疗并强调了对呼吸困难进行详细调查的必要性。
