肺多发结节囊性病变罕见原因结节性硬化症1例

Tuberous sclerosis complex as a rare cause of multiple nodular and cystic lung disease:a case report

目的扩展临床对肺多发囊性病变和多结节病变的鉴别诊断思维,深化对结节性硬化症(TSC)这一罕见疾病表现多样性的认识。方法报告了1例以体检发现肺部弥漫病变就诊的结节性硬化症患者的临床诊治过程,并结合相关文献进行探讨。结果进一步检查发现患者有心脏多发混杂密度影、肝内散在小结节、双肾多发结节占位、全身多发成骨病灶等多系统累及,肾结节行经皮穿刺活检病理示血管平滑肌脂肪瘤;结合患者皮肤散在小点片状色素脱失斑提示了TSC可能性;进一步外周血全外显子测序诊断为TSC。西罗莫司治疗后肺内病变好转。结论成人多发囊性肺疾病和多结节肺病鉴别诊断应考虑TSC的可能性。深入认识TSC各系统表现对早诊断早治疗TSC至关重要。

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.