PMID- 27833825
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20240326
IS  - 2167-8707 (Print)
IS  - 2167-8707 (Electronic)
IS  - 2167-8707 (Linking)
VI  - 4
IP  - 4
DP  - 2016
TI  - EPIDEMIOLOGY, PATHOGENESIS and DIAGNOSIS of LYMPHANGIOLEIOMYOMATOSIS.
PG  - 369-378
AB  - INTRODUCTION: Lymphangioleiomyomatosis (LAM) is a disease of women characterized 
      by cystic lung destruction, lymphatic involvement, and renal angiomyolipomas. 
      AREAS COVERED: LAM is caused by proliferation of abnormal smooth muscle-like LAM 
      cells containing mutations and perhaps epigenetic modifications of the TSC1 or 
      TSC2 genes, which encode, respectively, hamartin and tuberin, two proteins 
      controlling the mechanistic target of rapamycin (mTOR) signaling pathway. LAM 
      occurs sporadically or in association with tuberous sclerosis complex. LAM may 
      present with dyspnea, recurrent pneumothorax or chylothorax. Pulmonary function 
      tests show reduced flow rates and lung diffusion capacity. Exercise testing may 
      reveal hypoxemia and ventilatory limitation. The severity and progression of 
      disease may be assessed by computer tomography, and pulmonary function and 
      exercise testing. mTOR inhibitors, (e.g., sirolimus) are effective in stabilizing 
      lung function, and reducing the size of chylous effusions, lymphangioleiomyomas, 
      and angiomyolipomas. EXPERT OPINION: Different clinical phenotypes including 
      variable rates of disease progression and variable responses to therapy are seen 
      in LAM patients. No one test is available that predicts the course of disease at 
      the time of diagnosis. Further research regarding the molecular biology of LAM 
      clinical phenotypes is warranted. Recent advances in the characterization of the 
      pathogenesis of LAM are leading to the development of new therapies.
FAU - Taveira-DaSilva, Angelo M
AU  - Taveira-DaSilva AM
AD  - Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, 
      National Institutes of Health, Building 10, Room 6D03, MSC 1590, Bethesda, 
      Maryland 20892-1590, USA.
FAU - Moss, Joel
AU  - Moss J
AD  - Cardiovascular and Pulmonary Branch, National Heart, Lung, and Blood Institute, 
      National Institutes of Health, Building 10, Room 6D03, MSC 1590, Bethesda, 
      Maryland 20892-1590, USA.
LA  - eng
GR  - Z99 HL999999/Intramural NIH HHS/United States
PT  - Journal Article
DEP - 20160307
PL  - England
TA  - Expert Opin Orphan Drugs
JT  - Expert opinion on orphan drugs
JID - 101601398
PMC - PMC5098502
MID - NIHMS797926
OTO - NOTNLM
OT  - Lymphangioleiomyomatosis
OT  - TSC 1 and TSC2 mutations
OT  - Tuberous sclerosis complex (TSC)
OT  - mTOR
EDAT- 2016/11/12 06:00
MHDA- 2016/11/12 06:01
PMCR- 2017/03/07
CRDT- 2016/11/12 06:00
PHST- 2016/11/12 06:00 [entrez]
PHST- 2016/11/12 06:00 [pubmed]
PHST- 2016/11/12 06:01 [medline]
PHST- 2017/03/07 00:00 [pmc-release]
AID - 10.1517/21678707.2016.1148597 [doi]
PST - ppublish
SO  - Expert Opin Orphan Drugs. 2016;4(4):369-378. doi: 10.1517/21678707.2016.1148597. 
      Epub 2016 Mar 7.