是一个34岁的女人,主诉紧张的气息。呼吸困难逐渐开始3年之前,本质上是进步的,和没有伴随咳嗽、痰、咯血、肋膜炎的胸痛、气急、或减肥。病人没有吸烟史和她的职业没有揭露她的环境污染或毒素。病人被暴露在结核病的她的母亲,谁有闲置的老结核病。病人先前提到其他几个医生,诊断为哮喘患者,在治疗多种喷雾。尽管经常使用喷雾剂,她的症状没有缓解。我们之前要求医疗历史和病人声称她有癫痫发作史,与丙戊酸钠治疗她的条件下。在身体检查,肺部有广义减少呼吸声音和hyperresonant在打击乐器。病人低黑色素面部斑点与纤维脸部斑块。肺功能测试在我们的访问显示中度阻塞性通气障碍(FEV1 / FVC = 84%,残= 62%的预测值)。 The obstruction showed no significant response to bronchodilators (change in FEV1 after bronchodilator = 9% of the FEV1). Patient had no new brain magnetic resonance imaging (MRI) and the etiology of attacks was not clear. We recommended a brain MRI, which revealed multiple low-signal subependymal lesions less than 1 cm in size, beneath both right and left lateral ventricles along with multiple bilateral supratentorial subcortical flair hyperintense signal lesions (Figure
1)。脑电图也获得并没有看到当时癫痫放电。也考虑到抗结核接触史和她呼吸困难,胸部的高分辨率计算机断层扫描(HRCT)推荐;结果,两肺弥漫性细支气管肺不张,被认为与多种薄壁囊性损伤平均分配在所有肺区(图
3)。的鉴别诊断这一发现lymphangioleiomyomatosis, Birt-Hogg-Dube综合症,肺朗格汉斯组织细胞增生症,淋巴间质性肺炎,淀粉样变,滤泡性细支气管炎,肺腺癌。在胸部CT腹部削减一些非常可疑病变也出现在肝脏和肾脏,Hounsfield值的皮下的脂肪组织(图
2)。超声肾脏和肝脏显著增加报道的异构肾实质回声(没有任何明显的病变)和多个回波的病变在肝左、右叶的最大直径40毫米的叶。虽然其他的鉴别诊断也有可能,LAM-TSC是其中最有可能的,因为从胸部HRCT的模式发现,大脑核磁共振,皮肤的发现,和病变的肝脏和肾脏。
据欧洲呼吸协会指南LAM的诊断和管理相结合的临床诊断可以发现高分辨率CT和病人的历史(血管肌脂肪瘤,lymphangiomyolipoma乳糜胸或腹部乳糜性积液,明确或可能的TSC)和/或由组织活检病理诊断。没有义务去重做一个活检如果在其他条件都满足
1]。因为没有确诊的病变以前TSC相关联,我们问病人同意ultrasonography-guided肾活检。不过,她拒绝后同意理解过程的方法。后,我们建议一个基因测试证实这个诊断和排除Birt-Hogg-Dube综合症。TSC1和TSC2基因突变分析,因此,一种新的变体TSC2基因的突变检测如下:c.3599G > C;p.Arg1200Pro;Het。这种分析的方法包括使用罗氏芯片捕获TSC1和TSC2基因下一代测序紧随其后。LAM-TSC的明确诊断。我们所知,没有在文献中报道,这种突变及其影响的疾病表现和对治疗的反应模式还不清楚。 A transthoracic echocardiography was taken to rule out the cardiac burden of the disease. Normal function and anatomy of the heart were seen, and no rhabdomyomas were detected in the heart. At this time, we decided to put the patient on sirolimus (1 milligram twice daily) as the main medication for her systemic and pulmonary symptoms. Tests before starting the treatment showed border line level of alanine transferase (ALT) 32 U/L (upper limit of normal for women <31 U/L). The patient was strongly recommended to avoid pregnancy. More than one year after starting sirolimus, patient’s liver function tests are nearly left intact (last test results: ALT 45 U/L, aspartate aminotransferase (AST) 34 U/L (ULN for women 31 U/L), alkaline phosphatase 309 U/L (ULN for women <306 U/L), total bilirubin 1.02 mg/dl, urea 34 mg/dl, creatinine 0.83 mg/dl). Patient has not developed hyperlipidemia or any hematologic disorders. In follow-up visits, a body plethysmography was ordered and results are as follows: FEV1/FVC = 59.4%, FEV1 = 64.4%, TLC = 75.8%, RV = 50.6% of the predicted values. It appears that pulmonary function has remained stable. No events of pneumothorax or epileptic attacks have occurred during this period. In the latest ultrasonography, shrinkage of the tuberous lesions in the liver is seen. Largest echogenic lesion in the right lobe of the liver (as mentioned above) has shrunk to diameter of 34 mm. Unfortunately, the size and echogenicity of the renal parenchyma has not changed significantly. Facial lesions have diminished, and patient no longer visits dermatologist for cosmetic purposes.