Qian Xin, Wu Xiaofeng, Liu Xianjun
Department of Respiratory Medicine, Shiyan Taihe Hospital, Hubei University of Medicine, Shiyan, Hubei 442000, P.R. China.
Exp Ther Med. 2016 Apr;11(4):1381-1384. doi: 10.3892/etm.2016.3075. Epub 2016 Feb 16.
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive and slowly progressive disease. Mutations of the solute carrier family 34, member 2 gene are considered to be the cause of the disease. The present study reported the case of a 35-year-old female patient who was diagnosed with PAM. The parents of the patient were reported to be blood-related (cousins). The clinical manifestations and radiological and pathological characteristics of the patient are reported. A pulmonary function examination detected restrictive ventilatory and diffusion defects, and a high-resolution computed tomography scan showed multiple bilateral diffuse ground-glass opacifications and subpleural linear calcifications. A bronchoalveolar lavage fluid (BALF) examination detected a calcified body in the lavage fluid and a transbronchial biopsy showed numerous calcified bodies, concentrically laminated with an onion skin-like appearance in the alveolar spaces. Based on the aforementioned observations, the patient was diagnosed with PAM. Following administration of inhaled corticosteroid treatment, the symptoms were improved and the patient was discharged. After 1 year, the patient was lost to follow-up. The present study presents and reviews the typical radiological appearance, clinical presentation, pathological characteristics and treatments of PAM, and suggests that, often, the parents of the patients are blood-related and typically cousins. In addition, the present study proposes that a BALF examination may be considered an alternative method for the pathological diagnosis of PAM.
肺泡微石症（PAM）是一种罕见的常染色体隐性、进展缓慢的疾病。溶质载体家族34成员2基因的突变被认为是该疾病的病因。本研究报告了一名35岁女性患者被诊断为PAM的病例。据报道，该患者的父母有血缘关系（表亲）。报告了该患者的临床表现、影像学和病理学特征。肺功能检查发现限制性通气和弥散功能障碍，高分辨率计算机断层扫描显示双侧多发弥漫性磨玻璃影和胸膜下线性钙化。支气管肺泡灌洗（BALF）液检查在灌洗液中检测到钙化小体，经支气管活检显示肺泡腔内有大量钙化小体，呈同心层状，外观如洋葱皮。基于上述观察，该患者被诊断为PAM。给予吸入性糖皮质激素治疗后，症状改善，患者出院。1年后，患者失访。本研究介绍并回顾了PAM的典型影像学表现、临床表现、病理特征及治疗方法，并指出患者的父母通常有血缘关系，且多为表亲。此外，本研究提出BALF检查可被视为PAM病理诊断的一种替代方法。
