Tuberous sclerosis complex for the pulmonologist
| Autor: | Mouhamad Nasser, Caroline Leroux, Vincent Cottin, Yasmine Rebaine, Barbara Girerd |
|---|---|
| Přispěvatelé: | Hospices Civils de Lyon, Hôpital Louis Pradel, Lyon, France., Hôpital Charles-Le Moyne, Université de Sherbrooke (UdeS), Université Paris-Saclay, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Cardiology department, Hôpital Marie Lannelongue, Le Plessis Robinson, France, Infections Virales et Pathologie Comparée - UMR 754 (IVPC), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE) |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Adult
Male 0301 basic medicine Pulmonary and Respiratory Medicine Pathology medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Lung Neoplasms [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract Diseases of the respiratory system 03 medical and health sciences Tuberous sclerosis 0302 clinical medicine Tuberous Sclerosis immune system diseases hemic and lymphatic diseases Parenchyma medicine Humans Lymphangioleiomyomatosis Lung PI3K/AKT/mTOR pathway RC705-779 business.industry Genetic disorder medicine.disease bacterial infections and mycoses 3. Good health Pulmonologists 030104 developmental biology medicine.anatomical_structure 030228 respiratory system Multifocal micronodular pneumocyte hyperplasia Female lipids (amino acids peptides and proteins) TSC1 TSC2 business |
| Zdroj: | European Respiratory Review European Respiratory Review, European Respiratory Society, 2021, 30 (161), pp.200348. ⟨10.1183/16000617.0348-2020⟩ European Respiratory Review, Vol 30, Iss 161 (2021) |
| ISSN: | 0905-9180 1600-0617 |
| Popis: | Tuberous sclerosis complex (TSC) is a rare multisystem genetic disorder affecting almost all organs with no sex predominance. TSC has an autosomal-dominant inheritance and is caused by a heterozygous mutation in either theTSC1orTSC2gene leading to hyperactivation of the mammalian target of rapamycin (mTOR). TSC is associated with several pulmonary manifestations including lymphangioleiomyomatosis (LAM), multifocal micronodular pneumocyte hyperplasia (MMPH) and chylous effusions. LAM is a multisystem disorder characterised by cystic destruction of lung parenchyma, and may occur in either the setting of TSC (TSC-LAM) or sporadically (S-LAM). LAM occurs in 30–40% of adult females with TSC at childbearing age and is considered a nonmalignant metastatic neoplasm of unknown origin. TSC-LAM is generally milder and, unlike S-LAM, may occur in males. It manifests as multiple, bilateral, diffuse and thin-walled cysts with normal intervening lung parenchyma on chest computed tomography. LAM is complicated by spontaneous pneumothoraces in up to 70% of patients, with a high recurrence rate. mTOR inhibitors are the treatment of choice for LAM with moderately impaired lung function or chylous effusion. MMPH, manifesting as multiple solid and ground-glass nodules on high-resolution computed tomography, is usually harmless with no need for treatment. |
| Databáze: | OpenAIRE |
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