AI Article Synopsis
- Lymphangioleiomyomatosis is a rare sickness that causes problems in the lungs and affects other parts of the body too.
- It's usually caused by changes in certain genes linked to another condition called tuberous sclerosis.
- This case talks about a person who has both lymphangioleiomyomatosis and a kidney disease but didn’t have the usual gene changes that are often seen with it.
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 and/or 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 and gene panel.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11188819 | PMC |
| http://dx.doi.org/10.1080/08998280.2024.2334629 | DOI Listing |
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