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 |
Externí odkaz: |
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