Work

Pulmonary manifestations in tuberous sclerosis complex

Year: 2018

Type: article

Abstract: 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.

Source: American Journal of Medical Genetics Part C Seminars in Medical Genetics

DOI: 10.1002/ajmg.c.31638

Authors: Nishant Gupta, Elizabeth P. Henske

Institutions: University of Cincinnati, Brigham and Women's Hospital, Harvard University

Language: English

Topic: Tuberous Sclerosis Complex Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Heart, Lung, and Blood Institute