Recent advances in the management of lymphangioleiomyomatosis.
Kai-Feng XuXinlun TianJay H RyuPublished in: F1000Research (2018)
Lymphangioleiomyomatosis is a rare disorder that predominantly affects women and is characterized by progressive cystic changes in the lung, leading to gradually worsening shortness of breath and lung function impairment. Pleural complications such as pneumothorax and chylothorax commonly occur in these patients. Lymphangioleiomyomatosis can occur as a form of lung involvement in tuberous sclerosis complex or as a sporadic form (without tuberous sclerosis complex). Etiology in both forms of this disease centers on mutations in the tuberous sclerosis genes. Advances in our understanding of the regulatory role of tuberous sclerosis gene products (hamartin/tuberin) in the mechanistic target of rapamycin (mTOR) signaling pathway have led to the identification of effective therapy (mTOR inhibitors) for a rare disorder, once considered uniformly fatal. Here, we summarize the evolution of current concepts regarding lymphangioleiomyomatosis with an emphasis on recent advances and unresolved issues.
Keyphrases
- lung function
- signaling pathway
- temporal lobe epilepsy
- end stage renal disease
- chronic obstructive pulmonary disease
- ejection fraction
- cell proliferation
- genome wide
- air pollution
- newly diagnosed
- multiple sclerosis
- cystic fibrosis
- chronic kidney disease
- prognostic factors
- polycystic ovary syndrome
- risk factors
- transcription factor
- copy number
- peritoneal dialysis
- type diabetes
- epithelial mesenchymal transition
- bioinformatics analysis
- oxidative stress
- patient reported outcomes
- dna methylation
- adipose tissue
- pregnancy outcomes
- gene expression
- african american
- pregnant women
- bone marrow
- cell therapy