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

Autor: Sun, Jiesu L., Chen, Ling, Ghazi, Alexia, McNutt, Markey C., Mathai, Susan K., Millard, Mark
Zdroj: Baylor University Medical Center Proceedings; Jul2024, Vol. 37 Issue 4, p662-665, 4p
Abstrakt: 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. [ABSTRACT FROM AUTHOR]
Databáze: Supplemental Index