Multiple cysts in the kidney and lungs in a patient with polycystic kidney disease and lymphangioleiomyomatosis.
Multiple cysts in the kidney and lungs in a patient with polycystic kidney disease and lymphangioleiomyomatosis.
复制标题
DOI：
10.1100/tsw.2007.16
复制
发表时间：
2007-01-26
影响因子：
--
通讯作者：
Corbridge TC
中科院分区：
文献类型：
--
作者：
Lam AP;Corbridge TC
下面的图像来自一位32岁的女性，她患有囊性肺疾病、乳糜胸和囊性肾脏疾病，导致双侧肾切除。CT成像显示广泛的薄壁囊肿遍及整个肺实质(图1)，而左肾同样布满囊泡和血管平滑肌脂肪瘤(图2)。肺活检与淋巴管肌瘤病一致，肾脏病理显示多囊肾的血管肌脂瘤主要由含有脂肪和血管的平滑肌组成。淋巴管肌瘤病(LAM)是一种以女性为主的疾病，其特征是肺部有囊肿、气胸和乳糜性胸腔积液。淋巴管肌瘤病(LAM)的特征是平滑肌细胞异常增殖，导致肺囊性破坏和最终呼吸衰竭。其他器官系统表现包括肾脏的血管肌脂肪瘤，也可发生在结节性硬化症(TSC)中。TSC是一种常染色体显性遗传性神经皮肤病，由TSC1(Hamartin)或TSC2(Tuberin)基因突变引起，后者常见于LAM患者[1]。尽管没有呼吸道症状，但三分之一的TSC患者在胸部影像上有肺囊肿的证据。TSC常与肾囊肿有关。PKD1是常染色体显性遗传性多囊肾病(PKD)的致病基因之一，位于TSC2附近，这两个基因的缺失导致了最近描述的TSC2/PKD1毗连基因综合征的发生[3，4]。虽然到目前为止还没有研究证明LAM和PKD之间存在直接联系，但这两种疾病与TSC可能都是通过TSC2和PKD1基因的紧密联系而联系在一起的。
The following images are from a 32-year-old woman with cystic lung disease, chylothorax, and cystic kidney disease leading to bilateral nephrectomies. CT imaging reveals extensive thin-walled cysts throughout the entire lung parenchyma (Figure 1), while the left kidney is similarly riddled with cysts and angiomyolipoma (Figure 2). Lung biopsy was consistent with lymphangioleiomyomatosis, and renal pathology revealed polycystic kidney with angiomyolipomas consisting predominantly of smooth muscle with areas of fat and vasculature.Lymphangioleiomyomatosis (LAM), a disease of predominantly women, is characterized in the lung by cysts, pneumothoraces, and chylous pleural effusions. Lymphangioleiomyomatosis (LAM) is characterized by abnormal smooth muscle cell proliferation, leading to cystic destruction of the lung and eventual respiratory failure. Other organ system manifestations include angiomyolipomas in the kidneys, which can also occur in the tuberous sclerosis complex (TSC). TSC, an autosomal dominant neurocutaneous disorder, arises from mutation in the TSC1 (hamartin) or TSC2 (tuberin) gene, the latter of which is commonly seen in patients with LAM [1]. One-third of patients with TSC have evidence of pulmonary cysts on imaging of the chest, despite lacking respiratory symptoms [2]. TSC is frequently associated with renal cysts. PKD1, which is one of the genes responsible for autosomal-dominant polycystic kidney disease (PKD), lies adjacent to TSC2, and deletions in both genes lead to development of the recently described TSC2/PKD1 contiguous gene syndrome [3, 4]. While there have been no studies in the literature thus far documenting a direct association between LAM and PKD, these two diseases and TSC may all be linked by the close proximity of the TSC2 and PKD1 genes.
登录
查看更多内容
影响因子：
9.8
作者：
Sampson, JR;Maheshwar, MM;Harris, PC
通讯作者：
Harris, PC
影响因子：
5.7
作者：
Glassberg, MK
通讯作者：
Glassberg, MK
影响因子：
5.6
作者：
Martignoni, G;Bonetti, F;Eble, JN
通讯作者：
Eble, JN
影响因子：
9.6
作者：
Pacheco-Rodriguez, G;Kristof, AS;Moss, J
通讯作者：
Moss, J