Van Luong Dinh, Huy Le Ngoc, Giang Nguyen Xuan, Thu Nguyen Huu Hong, Ha Nguyen Hai, Binh Nguyen Huy
Lung Transplant Center National Lung Hospital Hanoi Vietnam.
Tuberculosis and Lung Diseases Department Hanoi Medical University Hanoi Vietnam.
Respirol Case Rep. 2024 Apr 9;12(4):e01346. doi: 10.1002/rcr2.1346. eCollection 2024 Apr.
Lymphangioleiomyomatosis (LAM) represents a rare, insidiously progressive disease of the pulmonary system, marked by cystic degradation of lung tissues leading to respiratory compromise. Pulmonary LAM has been identified as being associated with tuberous sclerosis complex (TSC) in its pulmonary manifestation (TSC-LAM), a multisystem genetic disorder resulting from mutations in either the or genes. Herein, we describe an early 20s female admitted to the hospital with dyspnea, chest pain, hypopigmented macules, and facial fibroadenomas. She has a medical history of renal angiomyolipomas (ALMs) and pneumothoraces. Diagnosis with LAM was confirmed through high-resolution computed tomography (HRCT) scan and histopathology of lung biopsy. Whole exome sequencing analysis identified a frameshift mutation c.4504del (p.L1502Cfs*74) in the patient's gene. This variant was de novo due to its absence in the patient's parents. This is the first report on the clinical and genetic etiology of TSC-LAM in Vietnam.
淋巴管平滑肌瘤病（LAM）是一种罕见的、隐匿性进展的肺部疾病，其特征是肺组织的囊性退变导致呼吸功能受损。肺LAM已被确定在其肺部表现（TSC-LAM）中与结节性硬化症（TSC）相关，TSC是一种由 或 基因的突变引起的多系统遗传性疾病。在此，我们描述了一名20岁出头的女性，因呼吸困难、胸痛、色素减退斑和面部纤维腺瘤入院。她有肾血管平滑肌脂肪瘤（ALM）和气胸病史。通过高分辨率计算机断层扫描（HRCT）和肺活检的组织病理学确诊为LAM。全外显子组测序分析在患者的 基因中鉴定出一个移码突变c.4504del（p.L1502Cfs*74）。由于该变异在患者父母中不存在，因此是新发的。这是越南关于TSC-LAM临床和遗传病因的首例报告。
