Lymphangioleiomyomatosis
Journal Title: Postępy Nauk Medycznych - Year 2011, Vol 24, Issue 4
Abstract
Lympangioleiomyomatosis (LAM) is a rare lung disease that affects almost exclusively women, primarily in their reproductive years. It is characterized by proliferation of abnormal smooth muscle-like cells (LAM cells), which leads to the formation of lung cysts, fluid-filled cystic structures in the axial lymphatics (lymphangioleiomyoma), and abdominal tumors (angiomyolipoma). LAM can arise sporadically or in association with tuberous sclerosis complex (TSC). TSC and LAM are linked to mutations in the tumor suppressor genes tuberous sclerosis complex 1 (TSC1) or TSC2, encoding hamartin and tuberin, respectively. These mutations leads to disruption of the tuberin-hamartin complex and disregulation of the mTOR/S6K1 signaling pathway, leading to aberrant cell proliferation seen in LAM.LAM commonly presents with progressive breathlessness or with recurrent pneumothorax, chylothorax, or sudden abdominal hemorrhage. Computed tomography scans show numerous thin-walled cysts throughout the lungs, abdominal angiomyolipomas, and lymphangioleiomyomas. No effective treatment currently exists for this progressive disorder. Hopes are high for mTOR inhibitors (sirolimus and everolimus) and treatment trials are currently underway. Lung transplantation must be considered when chronic respiratory failure occurs in patients with LAM.
Authors and Affiliations
Małgorzata Sobiecka
Keywords
Related Articles
- EP ID EP54156
- DOI -
- Views 146
- Downloads 0
Neuronal channelopathies
Ion channels are specialized proteins of the cell membrane which transports ions across the membrane. Ion channels are widely expressed both in excitable cells (neurons, muscles) and in the other cells (renal tubules, ep...
Circulating tumour cells of solid tumours – a key to the novel clinical staging of genito-urinary neoplasms
This is a current review on the circulating tumour cells (CTC) in patients with renal cell carcinoma as a potential diagnostic tool that will allow for more accurate assessment of advanced disease and the monitoring of t...
Management of pain in rheumatic diseases
Chronic pain is one of main symptoms of majority of rheumatic diseases. Because more than seventy percent of population over fifty year-old suffer of rheumatic disorders, so they are most often reason of chronic pain syn...
Polymorphism of C1q complement (rs292001) occurrence in systemic lupus erythematosus patients
<b>Introduction.</b> Systemic lupus erythematosus (SLE) is a chronic, autoimmunological disease. The cause of disease is still unknown. It may be assumed that genetic predisposition can predis...
Life span and outcomes in patients with malignant neoplasms commencing renal replacement therapy (RRT) in the years 2001-2015 – one-centre experience
Introduction. The growing availability of renal replacement therapy (RRT) may rise theincidence of malignant neoplasms at commencement of chronic dialysis. The prognosisfor such patients has not been studied extensively....