Lymphangioleiomyomatosis (LAM) is a rare lung disease, primarily affecting women. Abnormal proliferation of smooth muscle-like cells (LAM cells) within the lung is responsible for cystic destruction of the lung parenchyma and leads to chronic respiratory failure. Another characteristic feature of the disease is the development of fluid-filled lymphatic cystic structures (lymphangioleiomyomas) in the axial lymphatics and of angiomyolipomas in the kidneys. Its presentation is sporadic or associated with tuberous sclerosis complex, a dominant autosomal neurocutaneous syndrome. Both disorders have their origin in mutations of the tuberous sclerosis genes TSC1 and TSC2, which are involved in the regulation of cell signs critical for energy control and cell nutrition processes.
Category
Respiratory system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
12 Diseases of the respiratory system
Respiratory diseases principally affecting the lung interstitium
CB07 Lymphangioleiomyomatosis
H00896 Lymphangioleiomyomatosis
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06522 mTOR signaling
H00896 Lymphangioleiomyomatosis
