关键词: 弥漫性囊性肺疾病, 肺淋巴管肌瘤病(PLAM), 多灶性小结节型肺泡细胞增生(MMPN), 结节性硬化症(TSC), 哺乳动物雷帕霉素靶蛋白(mTOR)抑制剂

Abstract: Objective To broaden the differential diagnosis thinking of diffuse cystic lung diseases and multiple nodular lung disease, and to deepen the understanding of clinical phenotypes of tuberous sclerosis complex (TSC). Methods A case of TSC with complaint of diffuse lung diseases detected during a routine check-up was presented and relevant literatures were reviewed. Results Further examination confirmed multisystem involvement in the patient including heart, kidney, liver and bone, mimicking metabolic malignant tumor. However, percutaneous renal mass biopsy showed angiomyolipoma, which suggested TSC combined with “Confetti” skin lesions found on physical examination. Peripheral blood whole exome sequencing confirmed the diagnosis of TSC. The pulmonary lesions were improved after treatment with sirolimus. Conclusions High clinical awareness of TSC is essential in the patients with diffuse cystic lung diseases and multiple nodular lung diseases, especially in women. In-depth knowledge of multisystem manifestation in TSC is critical for early diagnosis and treatment of this rare disease.

Key words: diffuse cystic lung diseases, pulmonary lymphangioleiomyomatosis(PLAM), multifocal micronodular pneumocyte hyperplasia(MMPH), tuberous sclerosis complex(TSC), mammalian target of rapamycin(mTOR) inhibitors