Work

A 20-year-old woman with chronic cough and dyspnea

Year: 2024

Type: article

Abstract: Lymphangioleiomyomatosis is a rare progressive disease characterized by abnormal smooth muscle cell proliferation leading to a diffuse cystic lung disease and extrapulmonary manifestations. Most cases are caused by mutations in the TSC1 and/or TSC2 genes, which are also associated with tuberous sclerosis complex. We describe a case of sporadic lymphangioleiomyomatosis with autosomal dominant polycystic kidney disease and renal angiolipomas in a patient who tested negative for gene mutations on the TSC1 and TSC2 gene panel.

Source: Baylor University Medical Center Proceedings

DOI: 10.1080/08998280.2024.2334629

Authors: Jiesu L. Sun, Ling Chen, Alexia Ghazi, Markey C. McNutt, Susan K. Mathai, Mark Millard

Institutions: Baylor University Medical Center, The University of Texas Southwestern Medical Center, Texas A&M 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

OpenAlex ID: W4394580413