정답은 아래 정경수 선생님께서 맞추셨습니다^^ Lymphangioleiomyomatosis (LAM)

 

질환에 대한 설명 및 최근의 리뷰 저널 첨부합니다.

 

Lymphangioleiomyomatosis (LAM) is a rare, progressive, systemic disease, which mainly affects young women. It is characterized by the proliferation of abnormal, smooth muscle-like LAM cells in the lung, inducing the destruction and cystic remodeling of the pulmonary tissue. The extra pulmonary manifestations of LAM include thoracic and abdomen lymphadenopathy caused by the infiltration of LAM cells into the lymph vessels, which induces obstruction, development of fluid filled cysts in the chest, abdomen and pelvis, lymphangioleiomyomas, and in advanced disease chylous ascites and chylothorax. The kidneys are also often involved, with angiomyolipomas (AML’s), found to a lesser degree in the spleen and liver.

LAM may occur sporadically (S-LAM), but at about 40% occurs in women with Tuberous Sclerosis Complex (TSC-LAM), an autosomal dominant multi organ genetic disorder, presenting with neurological symptoms such as autism and mental retardation, seizures, and involvement of skin, heart (cardiac rabdomyomas) and the kidneys (AML’s). This syndrome derives from the mutation in the TSC-1 suppressor gene located in the 9q34 chromosome and which encodes hamartin protein. On the other hand, LAM presents mutation in the TSC-2 gene located in the 16p13 chromosome, encoding tuberin protein. Hemerin and tuberin are responsible for cell proliferation and growth, through the suppressor of mammalian target of rapamycin (mTOR), a serine-threonine kinase that regulates cell cycle and size. The deficit of these proteins leads to the activation of mTOR that increases cell proliferation and size.
LAM affects young women of childbearing age, with an average onset age of 34 years. Cases have also been described of women affected post menopausally, who however were under estrogen therapy.
The disease usually manifests with pulmonary symptoms, progressive dyspnea on exertion, pneumothorax and chylous pleural effusions. Occasionally, symptoms such as haemoptysis, cough and chyloptysis, may be present. The extra- pulmonary manifestations may involve the kidneys with presence of angiomyolipomas, which can cause abdominal hemorrhage, ascites, and abdominal tumors, lymphangioleiomyomas that can simulate ovarian cancer, abdominal sarcomas and lymphomas.
The X-Ray at the early disease usually appears normal or will show the presence of pneumothorax. For the diagnosis it is necessary to perform a high resolution CT scan (HRCT) that demonstrates the presence of multiple well-defined ,thinwalled cysts with diameter from 0.2 to 2 cm in both lungs.
On the other hand abdominal CT is necessary to confirm the presence of AML’s and lymphangiomyomas. In most cases pulmonary tissue biopsy is required and is the gold standard for
the diagnosis especially if the HRCT does not have the typical findings of LAM. The biopsy is usually obtained by videoassisted thoracoscopy. The specimen presents nodular LAM cell focuses that infiltrate lymphatics and new cysts. These focuses may contain two types of LAM cells, epithelioid and fusiform, that presents immunohistochemical staining for the alpha-actin, vimentin, desmin and the human melanoma black 45 (HMB 45), a monoclonal antibody that reacts with enzymes involved in melanogenesis.