sirolimus and Multiple-Pulmonary-Nodules

Tuberous sclerosis complex has manifestations in many organ systems, including brain, heart, kidney, skin, and lung. The primary manifestations in the lung are lymphangioleiomyomatosis (LAM) and multifocal micronodular pneumocyte hyperplasia (MMPH). LAM affects almost exclusively women, and causes cystic lung destruction, pneumothorax, and chylous pleural effusions. LAM can lead to dyspnea, oxygen dependence, and respiratory failure, with more rapid disease progression during the premenopausal years. In contrast, MMPH affects men and women equally, causing small nodular pulmonary deposits of type II pneumocytes that rarely progress to symptomatic disease. Here, we review the clinical features and pathogenesis of LAM and MMPH.

Topics: Animals; Female; Humans; Lung; Lung Neoplasms; Lymphangioleiomyomatosis; Mice; Multiple Pulmonary Nodules; Pneumothorax; Prognosis; Sirolimus; Tuberous Sclerosis; Tuberous Sclerosis Complex 2 Protein

Topics: Angiomyolipoma; Brain; Brain Neoplasms; Female; Humans; Immunosuppressive Agents; Kidney Neoplasms; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Magnetic Resonance Imaging; Multiple Pulmonary Nodules; Neoplasms, Multiple Primary; Rhabdomyoma; Sirolimus; Skin Neoplasms; Tomography, X-Ray Computed; Tuberous Sclerosis; Tuberous Sclerosis Complex 1 Protein; Tuberous Sclerosis Complex 2 Protein; Young Adult

An 18-year-old woman was admitted with abdominal pain and hematochezia. She was previously healthy until 15 years of age and was subsequently diagnosed with hypogammaglobulinemia, protein-losing enteropathy, a benign temporal lobe brain lesion/orbital fibroadenoma, autoimmune hepatitis, iron deficiency anaemia and hypothyroidism. She developed respiratory distress and hypoxemia. She was found to have nodules on chest CT scan. She was diagnosed with cytotoxic T-lymphocyte-associated antigen 4 deficiency via genetic testing.

Topics: Abatacept; Abdominal Pain; Adolescent; CTLA-4 Antigen; Diagnosis, Differential; Female; Gastrointestinal Hemorrhage; Humans; Immunosuppressive Agents; Multiple Pulmonary Nodules; Sirolimus; Treatment Outcome

A 27-year-old female patient was referred to our outpatient clinic with a 1-year history of shortness of breath when walking fast on level ground or when climbing stairs. Symptoms worsened after a second episode of spontaneous left pneumothorax, when a chest tube was placed in another hospital for complete lung expansion. During this hospitalization, an open lung biopsy was performed. There was no history of rhinorrhea, nasal congestion, cough, hemoptysis, wheezing, or expectoration.

Topics: Adult; Antibiotics, Antineoplastic; Cystic Fibrosis; Diagnosis, Differential; Disease Management; Female; Humans; Lung; Lung Neoplasms; Lymphangioleiomyomatosis; Multiple Pulmonary Nodules; Sirolimus; Tuberous Sclerosis