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Pulmonary alveolar proteinosis

Nadia Nathan, Keren Borensztajn, Annick Clement
PURPOSE OF REVIEW: Interstitial lung disease (ILD) in children (chILD) is an umbrella term for a heterogeneous group of rare respiratory disorders that are mostly chronic and associated with high morbidity and mortality. The pathogenesis of the various chILD is complex and implicates genetic contributors. The purpose of this review is to provide updated information on the molecular defects associated with the development of chILD. RECENT FINDINGS: Currently, the main mutations are identified in the surfactant genes SFTPA1, SFTPA2, SFTPB, SFTPC, ABCA3, and NKX2-1...
March 6, 2018: Current Opinion in Pulmonary Medicine
Arda Kiani, Tahereh Parsa, Parisa Adimi Naghan, Hervé Dutau, Fatemeh Razavi, Behrooz Farzanegan, Mahsa Pourabdollah Tootkaboni, Atefeh Abedini
INTRODUCTION: Pulmonary alveolar proteinosis (PAP) is a rare disease in the field of pulmonary medicine. The efficacy of whole-lung lavage (WLL) as the treatment of PAP had never been evaluated in the Iranian population. Therefore, there is a real need to investigate the characteristics of PAP and also to evaluate the efficacy of WLL in this rare disease. The study aimed to investigate demographic features, clinical presentation and treatment outcomes of the disease in Iranian PAP patients...
2018: Advances in Respiratory Medicine
François Huaux, Valentin De Gussem, Astrid Lebrun, Yousof Yakoub, Mihaly Palmai-Pallag, Saloua Ibouraadaten, Francine Uwambayinema, Dominique Lison
Occupational exposure to indium tin oxide (ITO) particles has been associated with the development of severe lung diseases, including pulmonary alveolar proteinosis (PAP). The mechanisms of this lung toxicity remain unknown. Here, we reveal the respective roles of resident alveolar (Siglec-Fhigh AM) and recruited interstitial (Siglec-Flow IM) macrophages contributing in concert to the development of PAP. In mice treated with ITO particles, PAP is specifically associated with IL-1α (not GM-CSF) deficiency and Siglec-Fhigh AM (not Siglec-Flow IM) depletion...
February 26, 2018: Archives of Toxicology
Kazutoshi Cho, Masafumi Yamada, Kazunaga Agematsu, Hirokazu Kanegane, Noriko Miyake, Masahiro Ueki, Takuma Akimoto, Norimoto Kobayashi, Satoru Ikemoto, Mishie Tanino, Atsushi Fujita, Itaru Hayasaka, Satoshi Miyamoto, Mari Tanaka-Kubota, Koh Nakata, Masaaki Shiina, Kazuhiro Ogata, Hisanori Minakami, Naomichi Matsumoto, Tadashi Ariga
Pulmonary alveolar proteinosis (PAP) is characterized by accumulation of a surfactant-like substance in alveolar spaces and hypoxemic respiratory failure. Genetic PAP (GPAP) is caused by mutations in genes encoding surfactant proteins or genes encoding a surfactant phospholipid transporter in alveolar type II epithelial cells. GPAP is also caused by mutations in genes whose products are implicated in surfactant catabolism in alveolar macrophages (AMs). We performed whole-exome sequence analysis in a family affected by infantile-onset PAP with hypogammaglobulinemia without causative mutations in genes associated with PAP: SFTPB, SFTPC, ABCA3, CSF2RA, CSF2RB, and GATA2...
February 12, 2018: American Journal of Human Genetics
Ernst M Bomhard
Indium oxide (In 2 O 3 ) is a technologically important semiconductor essentially used, doped with tin oxide, to form indium tin oxide (ITO). It is poorly soluble in all so far tested physiologic media. After repeated inhalation, In 2 O 3 particles accumulate in the lungs. Their mobilization can cause significant systemic exposure over long periods of time. An increasing number of cases of severe lung effects (characterized by pulmonary alveolar proteinosis, emphysema and/or interstitial fibrosis) in workers of the ITO industry warrants a review of the toxicological hazards also of In 2 O 3 ...
February 7, 2018: Environmental Toxicology and Pharmacology
Concha Nieto, Rafael Bragado, Cristina Municio, Elena Sierra-Filardi, Bárbara Alonso, María M Escribese, Jorge Domínguez-Andrés, Carlos Ardavín, Antonio Castrillo, Miguel A Vega, Amaya Puig-Kröger, Angel L Corbí
GM-CSF promotes the functional maturation of lung alveolar macrophages (A-MØ), whose differentiation is dependent on the peroxisome proliferator-activated receptor gamma (PPARγ) transcription factor. In fact, blockade of GM-CSF-initiated signaling or deletion of the PPARγ-encoding gene PPARG leads to functionally defective A-MØ and the onset of pulmonary alveolar proteinosis. In vitro , macrophages generated in the presence of GM-CSF display potent proinflammatory, immunogenic and tumor growth-limiting activities...
2018: Frontiers in Immunology
Manjari Kishore, Manju Kaushal, Desh Deepak, Manju Kumari
Pulmonary alveolar proteinosis (PAP) is a rare disease characterized by the deposition of extracellular lipoproteinaceous material within the air spaces. Although the diagnosis is mainly based on histopathological findings, sometimes, the diagnostic yield of transbronchial and even open lung biopsy can be unsatisfactory. The advantage with bronchoalveolar lavage (BAL) cytology is that apart from being safer for the patient, it can sample a much wider area and help in giving an early diagnosis and treatment to the patient...
January 2018: Journal of Laboratory Physicians
Anupam Kumar, Basem Abdelmalak, Yoshikazu Inoue, Daniel A Culver
Pulmonary alveolar proteinosis (PAP) is a diffuse lung disease that results from the accumulation of lipoproteinaceous material in the alveoli and alveolar macrophages due to abnormal surfactant homoeostasis. Identification of the granulocyte-macrophage colony-stimulating factor (GM-CSF) as an indispensable mediator of macrophage maturation and surfactant catabolism was the key discovery leading to the current understanding of the pathogenesis of most forms of PAP. Impaired GM-CSF bioavailability due to anti-GM-CSF autoimmunity is the cause of approximately 90% of adult PAP cases...
January 31, 2018: Lancet Respiratory Medicine
Dongmei Zhang, Xinlun Tian, Ruie Feng, Xiaobei Guo, Peng Wang, Yusen Situ, Yi Xiao, Kai-Feng Xu
BACKGROUND: Secondary pulmonary alveolar proteinosis (sPAP) is an extremely rare disease. The clinical features of sPAP patients remain to be summarizeds. METHODS: Patients pathologically diagnosed with PAP and with negative results for anti-granulocyte macrophage colony stimulating factor (GM-CSF) autoantibodies from Peking Union Medical College Hospital between January 2000 and July 2016 were retrospectively studied. The PubMed database was also searched for literature to collect published cases...
January 25, 2018: BMC Pulmonary Medicine
Alisha Kamboj, Michael Lause, Vijay Duggirala
No abstract text is available yet for this article.
January 4, 2018: American Journal of Medicine
O J McElvaney, D Horan, A N Franciosi, C Gunaratnam, N G McElvaney
No abstract text is available yet for this article.
December 12, 2017: QJM: Monthly Journal of the Association of Physicians
Craig A Marshall, Dawn E Watkins-Chow, Giampiero Palladino, Gail Deutsch, Keshav Chandran, William J Pavan, Robert P Erickson
The Npc1nmf164 allele of Npc1 provides a mouse model for Niemann-Pick disease type C1 (NPC1), a genetic disease known to have a widely variable phenotype. The transfer of the Npc1nmf164 mutation from the C57BL/6J inbred strain to the BALB/cJ inbred strain increased the mean lifespan from 117.8days to 153.1days, confirming that the severity of the NPC1 phenotype is strongly influenced by genetic background. The transfer of another Npc1 allele, Npc1nih , to this background also extended survival of the homozygotes indicating that the modifying effect of BALB/cJ is not limited to a single allele of Npc1...
February 15, 2018: Gene
Lisa J McReynolds, Sharon A Savage
The clinical manifestations of inherited susceptibility to leukemia encompass a wide phenotypic range, including patients with certain congenital anomalies or early-onset myelodysplastic syndrome (MDS) and some with no obvious medical problems until they develop leukemia. Leukemia susceptibility syndromes occur as a result of autosomal dominant, autosomal recessive, or X-linked recessive inheritance, or de novo occurrence, of germline pathogenic variants in DNA repair, ribosome biogenesis, telomere biology, hematopoietic transcription factors, tumor suppressors, and other critical cellular processes...
December 8, 2017: Hematology—the Education Program of the American Society of Hematology
Cormac McCarthy, Beatriz Lara Gallego, Bruce C Trapnell, Francis X McCormack
Rare lung diseases encompass a broad spectrum of conditions and affect an estimated 1.2-2.5 million people in North America and 1.5-3 million people in Europe. While individual rare lung diseases affect less than 1 in 2000 individuals, collectively they have a significant impact upon the population at large. Hence it is vital to understand firstly the epidemiology and subsequently the pathogenesis and clinical course of these disorders. Through a greater understanding of these aspects of disease, progress can be made in reducing symptoms, containing healthcare costs and utilizing resources efficiently...
2017: Advances in Experimental Medicine and Biology
Masaki Nishimura, Etsuro Yamaguchi, Ayumu Takahashi, Nobuhiro Asai, Eisuke Katsuda, Toyohiro Ohta, Yoshinori Ohtsuka, Kenshi Kosaka, Ayako Matsubara, Hiroyuki Tanaka, Norihito Yokoe, Akihito Kubo, Satoshi Konno, Kenji Baba
AIM: Precise clinical significance of antigranulocyte-macrophage colony stimulating factor (GM-CSF) autoantibody levels in autoimmune pulmonary alveolar proteinosis (aPAP) has not been well studied. METHODS: We obtained sera from 50 healthy controls, 46 aPAP patients, 50 with sarcoidosis, 52 with idiopathic interstitial pneumonia and 75 with pneumoconiosis. The clinical course of aPAP patients was assessed by scoring computed tomography images in 19 patients. RESULTS: The cut-off level of anti-GM-CSF IgG for discrimination between aPAP and other diffuse lung diseases was 2...
February 2018: Biomarkers in Medicine
Hiroki Matsuura, Yasufumi Yamaji
No abstract text is available yet for this article.
November 27, 2017: American Journal of Medicine
Mari Tanaka-Kubota, Koji Shinozaki, Satoshi Miyamoto, Masakatsu Yanagimachi, Tsubasa Okano, Noriko Mitsuiki, Masahiro Ueki, Masafumi Yamada, Kohsuke Imai, Masatoshi Takagi, Kazunaga Agematsu, Hirokazu Kanegane, Tomohiro Morio
Pulmonary alveolar proteinosis (PAP) is a rare disorder that is characterized by the excessive accumulation of surfactant-like materials in the alveoli, leading to hypoxemic respiratory failure. We describe two Japanese infants with PAP associated with hypogammaglobulinemia and monocytopenia. These patients may have underlying primary immunodeficiency (PID) and were successfully treated with allogeneic hematopoietic stem cell transplantation (HSCT). This report indicates that allogeneic HSCT may provide a curative treatment for PAP associated with PID...
November 28, 2017: International Journal of Hematology
Ji An Hwang, Joo Han Song, Jung Hoon Kim, Man Pyo Chung, Dong Soon Kim, Jin Woo Song, Young Whan Kim, Sun Mi Choi, Seung Ick Cha, Soo Taek Uh, Choon-Sik Park, Sung Hwan Jeong, Yong Bum Park, Hong Lyeol Lee, Jong Wook Shin, Eun Joo Lee, Yangjin Jegal, Hyun Kyung Lee, Jong Sun Park, Moo Suk Park
BACKGROUND: This study aimed to investigate clinical characteristics of Korean PAP patients and to examine the potential risk factors of PAP. METHODS: We retrospectively reviewed medical records of 78 Korean PAP patients diagnosed between 1993 and 2014. Patients were classified into two groups according to the presence/absence of treatment (lavage). Clinical and laboratory features were compared between the two groups. RESULTS: Of the total 78 PAP patients, 60% were male and median age at diagnosis was 47...
November 21, 2017: BMC Pulmonary Medicine
Müge Erbay, Yılmaz Bülbül, Funda Öztuna, Mehmet Kılıç, Neslihan Özçelik, Şafak Ersöz
Pulmonary alveolar proteinosis (PAP) is a rare pulmonary disease characterised by alveolar accumulation of surfactant composed of proteins and lipids. Three main categories of PAP have been defined depending on the aetiology: primer/idiopathic, neonatal/congenital, secondary and exogenous/environmental exposure. Radiologically diffuse ground glass opacities, interlobular and intralobular septal thickening is seen. Although open lung biopsy is accepted as the gold standard in diagnosis, it can be diagnosed by showing bronchoalveolar lavage (BAL) fluid with a milky appearance and periodic acid-schiff (PAS) positive globules in biopsy with clinical and radiological findings...
September 2017: Tüberküloz Ve Toraks
Alexandra Kuhn, Mania Ackermann, Claudio Mussolino, Toni Cathomen, Nico Lachmann, Thomas Moritz
Hereditary pulmonary alveolar proteinosis (herPAP) constitutes a rare, life threatening lung disease characterized by the inability of alveolar macrophages to clear the alveolar airspaces from surfactant phospholipids. On a molecular level, the disorder is defined by a defect in the CSF2RA gene coding for the GM-CSF receptor alpha-chain (CD116). As therapeutic options are limited, we currently pursue a cell and gene therapy approach aiming for the intrapulmonary transplantation of gene-corrected macrophages derived from herPAP-specific induced pluripotent stem cells (herPAP-iPSC) employing transcriptional activator-like effector nucleases (TALENs)...
November 9, 2017: Scientific Reports
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