Pulmonary manifestations in tuberous sclerosis complex.
Nishant GuptaElizabeth P HenskePublished in: American journal of medical genetics. Part C, Seminars in medical genetics (2018)
Tuberous sclerosis complex has manifestations in many organ systems, including brain, heart, kidney, skin, and lung. The primary manifestations in the lung are lymphangioleiomyomatosis (LAM) and multifocal micronodular pneumocyte hyperplasia (MMPH). LAM affects almost exclusively women, and causes cystic lung destruction, pneumothorax, and chylous pleural effusions. LAM can lead to dyspnea, oxygen dependence, and respiratory failure, with more rapid disease progression during the premenopausal years. In contrast, MMPH affects men and women equally, causing small nodular pulmonary deposits of type II pneumocytes that rarely progress to symptomatic disease. Here, we review the clinical features and pathogenesis of LAM and MMPH.
Keyphrases
- respiratory failure
- pulmonary hypertension
- extracorporeal membrane oxygenation
- heart failure
- magnetic resonance
- polycystic ovary syndrome
- magnetic resonance imaging
- white matter
- resting state
- wound healing
- atrial fibrillation
- intensive care unit
- multiple sclerosis
- computed tomography
- palliative care
- pregnancy outcomes
- contrast enhanced
- loop mediated isothermal amplification