Objective: To improve the understanding of clinical manifestations, imaging findings, diagnosis and treatment of surfactant protein C gene (SFTPC) mutation associated with familial interstitial lung disease in adults. Methods: Two cases of adult SFTPC gene mutation associated with familial interstitial lung disease diagnosed in the Affiliated Hospital of Medical School of Ningbo University were analyzed retrospectively, and the literature was reviewed. The literatures were retrieved with "family interstitial lung disease" "SFTPC gene" "surface protein C gene" "SFTPC gene mutation associated with familial international lung disease" and "surface protein C gene mutation associated with familial international lung disease" in PubMed, Embase, Ovid, Wanfang database and China National Knowledge Infrastructure (CNKI). Results: There were two patients with familial interstitial lung diseases(one male and one female) with an average age of 27.5 years. Ⅱ-2 patient had symptoms of dry cough and shortness of breath, and Ⅱ-1 patient had no symptoms. There were multiple cysts and fine reticular shadows in both cases. Ⅱ-2 patient had multiple ground glass opacities in both lower lungs. TheⅡ-2 patient was diagnosed with usual interstitial pneumonia (UIP) by transbronchial lung cryobiopsy. A total of 35 patients were included in this literature review, including 20 males, with an average age of 33.5 years. Of all the patients, the clinical symptoms were described in 30 patients. The main manifestations were shortness of breath (22/30), dry cough (18/30), clubbing finger (12/30), and 30% (9/30) of them were found by chest computerized tomography (CT) without symptoms. There were 17 cases with detailed description of chest CT imaging. The most common chest CT findings were multiple intralobular reticular opacities (17/17), multiple cysts (12/17) and ground glass opacities (7/17). The main histopathological pattern was UIP (24/26). Conclusions: The main clinical manifestations of SFTPC gene mutation associated with familial interstitial lung disease in adults are shortness of breath, dry cough and clubbing fingers. The main manifestations are multiple cysts and intralobular reticular opacities in combination with multiple ground glass opacities. There is no specific drug in the treatment at present and early treatment with hydroxychloroquine may have better curative effect. When the imaging findings show multiple cysts and intralobular reticular opacities in combination with multiple ground glass opacities, especially the age of onset is less than 50 years old, this disease should be considered.
目的： 提高对成人肺表面活性蛋白C（SFTPC）基因突变相关家族性间质性肺疾病的临床表现、影像表现、诊断和治疗的认识。 方法： 回顾分析宁波大学医学院附属医院诊断的2例成人SFTPC基因突变相关家族性间质性肺疾病，结合文献进行复习。以“familial interstitial lung disease”“SFTPC gene”“surfactant protein C gene”“SFTPC gene mutation associated with familial interstitial lung disease”和“surfactant protein C gene mutation associated with familial interstitial lung disease”为检索词在PubMed、Embase及Ovid数据库，以“家族性间质性肺疾病”“SFTPC基因”“肺表面活性物质相关蛋白C基因”“SFTPC基因突变相关家族性间质性肺疾病”及“肺表面活性物质相关蛋白C基因突变相关家族性间质性肺疾病”为检索词在万方数据库及中国期刊网全文数据，检索时间截至2021年3月。 结果： 本组2例家族发病患者1男1女，平均年龄27.5岁，Ⅱ-2患者存在干咳、气促症状，Ⅱ-3无症状，2例影像表现均存在多发囊腔及细网格状影，Ⅱ-2患者存在两下肺多发磨玻璃影，Ⅱ-2患者经支气管镜冷冻肺活检病理诊断为UIP。文献复习共纳入35例患者，其中男20例，平均年龄为33.5岁，主要表现为气促（22/30）、干咳（18/30）、杵状指（12/30），而无症状体检或家族其他成员发现而行胸部CT发现占30%（9/30）。最常见胸部CT表现为双肺多发细网格状影（17/17）及多发囊状影或囊腔（12/17）和磨玻璃影（7/17）。病理主要表现为UIP（24/26）。 结论： 成人SFTPC基因突变相关家族性间质性肺疾病临床主要表现为气促、干咳及杵状指，影像学表现具有一定特征性，主要表现为双肺多发囊腔影及细网格状影伴或不伴两下肺多发磨玻璃影，治疗上目前无特效药，尽早使用羟氯喹可能有较好的疗效。对于影像表现为双肺多发囊腔影伴细网格影及磨玻璃影且发病年龄<50岁时，需要考虑该病可能。.