A rare mutation on alpha-1 antitrypsin deficit and lung fibrosis: case report.

Alpha1-antitrypsin deficiency (AATD) is an autosomal codominant disease, and different genetic variants are known, some of which very rare. Usual pulmonary manifestations include emphysema, bronchiectasis and asthma. Pulmonary fibrosis is uncommon. We describe a case of a 64 year old man with an inaugural diagnosis of cirrhosis and lung fibrosis, without emphysema or bronchiectasis, associated with AATD. Further investigation identified a rare variant in heterozigosity (MMPalermo), usually associated with liver disease. Concomitantly, he had a secondary iron overload, and in the course of the investigation, a type 2 diabetes mellitus installed. The association between AATD and pulmonary fibrosis is rare, however it has been identified in a few studies and case reports, questioning the role of AAT in pulmonary fibrosis. (Sarcoidosis Vasc Diffuse Lung Dis 2020; 37 (4): e2020019).

Diffuse alveolar hemorrhage: how relevant is etiology?

BACKGROUND: Diffuse Alveolar Hemorrhage (DAH) is a rare and potentially life-threatening clinical syndrome whose early recognition is essential. OBJECTIVES: Characterization of patients with DAH and comparison of presentation and evolution of the disease according to etiology. METHODS: We retrospectively reviewed the clinical records of patients admitted to our hospital over a 7-year period with DAH. Criteria for DAH (1+2): 1 - hemoptysis and/or pulmonary infiltrates and/or anemia (DAH triad); 2 - hemorrhagic bronchoalveolar lavage (BAL) or siderophagic alveolitis. DAH was grouped in immune and nonimmune and the course of disease was compared. RESULTS: We included 24 patients admitted with DAH, of which 11 had an immune cause: p-ANCA vasculitis (n=7), Systemic Lupus Erythematosus (n=2), c-ANCA vasculitis (n=1), Rheumatoid Arthritis (n=1) and 13 had a nonimmune cause: heart disease (n=6), amiodarone toxicity (n=2), clotting disorder (n=2), cannabis toxicity (n=1), S. aureus infection (n=1) and idiopathic (n=1). Patients with nonimmune DAH were significantly older than those with immune DAH (67.9±18.1 vs 56.6±18.8 years, p=0.042). DAH triad was observed in 54% of all patients, hemoptysis in 67%, anemia in 79%, and pulmonary infiltrates in all cases. Patients with immune DAH had more frequently pulmonary-renal syndrome (p<0.001), kidney failure (p=0.048), shock (p=0.049) and needed more frequently admition in ICU (p=0.039) and blood transfusion (p=0.043). Hospital length of stay was superior in immune group (29.5±20.0 vs 19.5±14.3 days, p=0.047). In-hospital mortality was exclusive to immune DAH (12.5%). CONCLUSIONS: Patients with DAH due to immune causes were significantly younger, had more severe presentations of the disease and worst outcomes.

[Thoracic nocardiosis - a clinical report]. / Nocardiose torácica. Caso clínico.

Nocardia genus microorganisms are ubiquitous, Gram positive aerobic bacterias, responsible for disease mainly in immunocompromised hosts, with cellular immune response commitment. Inhalation is the main form of transmition and pulmonary disease is the most frequent presentation. Dissemination may occur by contiguity and also via hematogenous. The clinical and imaging presentation is not specific, and diagnosis is obtained after identification of Nocardia bacteria in biological samples. Since there are no reliable studies that indicate the best therapeutic option, treatment should be individualized and based on antimicrobial susceptibility testing. Surgical drainage should also be considered in all patients. The authors present a clinical case of a patient with thoracic nocardiosis, and make a short literature review on the theme.