Alveolar proteinosis and nocardiosis: a patient treated by bronchopulmonary lavage

Pascual, Julio; Aguinaga, Margarita; Vidal, Rubén; Maudes, A.; Sureda, Anna; Mampaso, E. Gómez; Fogué, L.

doi:10.1136/pgmj.65.767.674

Cited by 29 publications

(11 citation statements)

References 20 publications

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“…[4], Nocardia sp. [5][6][7], Mycobacterium sp. [8][9][10][11][12][13], Cryptococcus neoformans [14], Histoplasma capsulatum [15], Pneumocystis carinii [16], and virus [17].…”

mentioning

confidence: 99%

Pulmonary Alveolar Proteinosis and tuberculosis in a diabetic patient: a rare or a seldom diagnosed association

Pereira-Silva¹,

Marinho²,

Veloso³

et al. 2002

Braz J Infect Dis

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“…[4], Nocardia sp. [5][6][7], Mycobacterium sp. [8][9][10][11][12][13], Cryptococcus neoformans [14], Histoplasma capsulatum [15], Pneumocystis carinii [16], and virus [17].…”

mentioning

confidence: 99%

Pulmonary Alveolar Proteinosis and tuberculosis in a diabetic patient: a rare or a seldom diagnosed association

Pereira-Silva¹,

Marinho²,

Veloso³

et al. 2002

Braz J Infect Dis

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“…The overall prognosis for hereditary PAP treated by whole lung lavage is excellent 21 . Initially immunosuppressive therapy because of the interstitial lung parenchymal infiltrates may increase pulmonary opportunistic infections mainly mediated by Aspergillus species, Nocardia species, Mycobacterium species and Pneumocystis carinii 22 23 24 25 . However, this susceptibility is multifactorial and may be due to impaired macrophage and neutrophil function 26 27 .…”

Section: Discussionmentioning

confidence: 99%

Whole-Genome Sequencing of a Family with Hereditary Pulmonary Alveolar Proteinosis Identifies a Rare Structural Variant Involving CSF2RA/CRLF2/IL3RA Gene Disruption

Chiu

Fan

et al. 2017

Sci Rep

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Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease in which the abnormalities in alveolar surfactant accumulation are caused by impairments of GM-CSF pathway attributing to defects in a variety of genes. However, hereditary PAP is extremely uncommon and a detailed understanding in the genetic inheritance of PAP in a family may provide timely diagnosis, treatment and proper intervention including genetic consultation. Here, we described a comprehensive analysis of genome and gene expression for a family containing one affected child with a diagnosis of PAP and two other healthy siblings. Family-based whole-genome analysis revealed a homozygous deletion that disrupts CSF2RA, CRLF2, and IL3RA gene in the pseudoautosomal region of the X chromosome in the affected child and one of asymptomatic siblings. Further functional pathway analysis of differentially expressed genes in IL-1β-treated peripheral blood mononuclear cells highlighted the insufficiency of immune response in the child with PAP, especially the protection against bacterial infection. Collectively, our results reveal a novel allele as the genetic determinant of a family with PAP and provide insights into variable expressivity and incomplete penetrance of this rare disease, which will be helpful for proper genetic consultation and prompt treatment to avoid mortality and morbidity.

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“…The disease is more common among males (73%) [20] , [41] . The mean age is 66 years, even if it can be higher in COPD cases or lower among organ transplant recipients and patients with HIV or pulmonary alveolar proteinosis [4] , [44] . As already mentioned in Section 1 , symptoms of PN are far from being specific.…”

Section: Discussionmentioning

confidence: 99%

Pulmonary nocardiosis in Chronic Obstructive Pulmonary Disease: A new clinical challenge

Castellana

Grimaldi

Castellana

et al. 2016

Respiratory Medicine Case Reports

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Pulmonary nocardiosis (PN) is a rare but severe disease caused by Nocardia spp. Despite the traditional description as opportunistic infection, case reports and case series of pulmonary nocardiosis have recently been reported in immunocompetent patients too, in particular among people with chronic pulmonary diseases such as advanced Chronic Obstructive Pulmonary Disease (COPD).PN is characterized by non-specific symptoms and radiological findings; bacteriological culture can be difficult. For the reasons above, diagnosis of PN is challenging, sometimes resulting in a misdiagnosis of tuberculosis.We report an interesting case of PN in a 75-year-old male with COPD. He complained a 3-months history of fatigue, evening rise in body temperature, night sweats, unexplained weight loss of 5 kg, worsening dyspnea, cough and mucopurulent sputum. The chest X-ray showed multiple nodules with cavitations bilaterally in the apical and subclavian regions. Nocardia cyriacigeorgica with 100% identity was identified in three sputum samples.Since the patient has never undergone a systemic and/or inhaled steroid therapy, and has no respiratory failure and comorbidities entailing immunodepression, it is conceivable that, in this immunocompetent patient, the COPD could represent an isolated risk factor for PN.Risk factors, clinical presentations, radiographic findings, differential diagnosis and review of the literature of PN cases in COPD, pointing out the similarities and differences, are also described.

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Alveolar proteinosis and nocardiosis: a patient treated by bronchopulmonary lavage

Cited by 29 publications

References 20 publications

Pulmonary Alveolar Proteinosis and tuberculosis in a diabetic patient: a rare or a seldom diagnosed association

Pulmonary Alveolar Proteinosis and tuberculosis in a diabetic patient: a rare or a seldom diagnosed association

Whole-Genome Sequencing of a Family with Hereditary Pulmonary Alveolar Proteinosis Identifies a Rare Structural Variant Involving CSF2RA/CRLF2/IL3RA Gene Disruption

Pulmonary nocardiosis in Chronic Obstructive Pulmonary Disease: A new clinical challenge

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