introduction: α1-antitrypsin deficiency (α1-atd) is one of the most common genetic disorders in white race, a usual cause of liver disease in children, and hepatopulmonary involvement in children and adult. the aim of this case description is presenting a child with early lung disease without liver parenchymal disorder. case presentation: we describe a 13 year old boy because of exertional dysp...

Multiple cystic lung disease represents a diverse group of uncommon disorders that can present a diagnostic challenge due to the increasing number of diseases associated with this presentation. High-resolution computed tomography of the chest helps to define the morphological aspects and distribution of lung cysts, as well as associated findings. The combination of appearance upon imaging and c...

Several diseases cause cystic or cyst-like parenchymal lung abnormalities including adult pulmonary Langerhan's cell histiocytosis (PLCH), lymphangioleiomyomatosis (LAM), emphysema, end-stage interstitial lung disease, and cystic bronchiectasis. Many of these diseases can now be diagnosed with high accuracy by the use of high-resolution computerized tomography (HRCT). In fact, HRCT of chest has...

BACKGROUND Inflammation plays a critical role in lung disease development and progression in cystic fibrosis. Azithromycin is used for the treatment of cystic fibrosis lung disease, although its mechanisms of action are poorly understood. We tested the hypothesis that azithromycin modulates lung inflammation in cystic fibrosis mice. METHODS We monitored cellular and molecular inflammatory mar...

Light chain deposition disease (LCDD) is a rare disease resulting from non-amyloid immunoglobulin (Ig) light chain deposition in tissue. In systemic LCDD, plasma cell dyscrasia is common and renal involvement is almost always present, sometimes with damage to other organ systems (cardiac, hepatic and neurological systems). LCDD can be limited to the lungs, presenting as multiple cystic lung dis...

RATIONALE Pulmonary inflammation, infection, and structural lung disease occur early in life in children with cystic fibrosis. OBJECTIVES We hypothesized that the presence of these markers of cystic fibrosis lung disease in the first 2 years of life would be associated with reduced lung function in childhood. METHODS Lung function (forced expiratory volume in the first three-quarters of a s...

Gene therapy is an alternative treatment for genetic lung disease, especially monogenic disorders such as cystic fibrosis. Cystic fibrosis is a severe autosomal recessive disease affecting one in 2500 live births in the white population, caused by mutation of the cystic fibrosis transmembrane conductance regulator (CFTR). The disease is classically characterized by pancreatic enzyme insufficien...