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Rare pulmonary diseases

  1. Content type: Letter to the Editor

    Pneumothorax is one of the most common symptoms in patients with lymphangioleiomyomatosis (LAM). However, current management strategies for patients with LAM who present with recurrent pneumothorax remain inad...

    Authors: Li Zhou, Ruoyun Ouyang, Hong Luo, Siying Ren, Ping Chen, Yating Peng, Ting Liu and Guiqian Liu

    Citation: Orphanet Journal of Rare Diseases 2018 13:168

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  2. Content type: Letter to the Editor

    Alpha-1 antitrypsin deficiency is an autosomal co-dominant disorder caused by mutations of the highly polymorphic SERPINA1 gene. This genetic disorder still remains largely under-recognized and can be associated ...

    Authors: Céline Renoux, Marie-Françoise Odou, Guillaume Tosato, Jordan Teoli, Norman Abbou, Christine Lombard, Farid Zerimech, Nicole Porchet, Colette Chapuis Cellier, Malika Balduyck and Philippe Joly

    Citation: Orphanet Journal of Rare Diseases 2018 13:161

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  3. Content type: Research

    Lymphangioleiomyomatosis (LAM) is a rare lung disease and the mammalian target of the rapamycin (mTOR) inhibitors has been used as an effective therapy. Here we conducted a systematic review and meta-analysis ...

    Authors: Nannan Gao, Tengyue Zhang, Jiadong Ji, Kai-Feng Xu and Xinlun Tian

    Citation: Orphanet Journal of Rare Diseases 2018 13:134

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  4. Content type: Letter to the Editor

    Pulmonary alveolar proteinosis (PAP) is a rare syndrome of alveolar surfactant accumulation, resulting hypoxemic respiratory failure, and increased infection risk. Despite advances in our understanding of dise...

    Authors: Cormac McCarthy, Ruzan Avetisyan, Brenna C. Carey, Claudia Chalk and Bruce C. Trapnell

    Citation: Orphanet Journal of Rare Diseases 2018 13:129

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  5. Content type: Research

    Birt-Hogg-Dubé syndrome (BHDS) is a recently recognized inherited multiple cystic lung disease causing recurrent pneumothoraces. Similarly to the lesions in patients with lymphangioleiomyomatosis (LAM), the pu...

    Authors: Teruaki Mizobuchi, Masatoshi Kurihara, Hiroki Ebana, Sumitaka Yamanaka, Hideyuki Kataoka, Shouichi Okamoto, Etsuko Kobayashi, Toshio Kumasaka and Kuniaki Seyama

    Citation: Orphanet Journal of Rare Diseases 2018 13:78

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  6. Content type: Research

    Pulmonary hemosiderosis is a rare and complex disease in children. A previous study from the French RespiRare® network led to two important findings: 20% of the children presented with both pulmonary hemosider...

    Authors: Aurelia Alimi, Jessica Taytard, Rola Abou Taam, Véronique Houdouin, Aude Forgeron, Marc Lubrano Lavadera, Pierrick Cros, Isabelle Gibertini, Jocelyne Derelle, Antoine Deschildre, Caroline Thumerelle, Ralph Epaud, Philippe Reix, Michael Fayon, Sylvie Roullaud, Françoise Troussier…

    Citation: Orphanet Journal of Rare Diseases 2018 13:60

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  7. Content type: Research

    Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the prese...

    Authors: Meike Hengst, Lutz Naehrlich, Poornima Mahavadi, Joerg Grosse-Onnebrink, Suzanne Terheggen-Lagro, Lars Høsøien Skanke, Luise A. Schuch, Frank Brasch, Andreas Guenther, Simone Reu, Julia Ley-Zaporozhan and Matthias Griese

    Citation: Orphanet Journal of Rare Diseases 2018 13:42

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  8. Content type: Research

    Sirolimus has been shown to be effective in patients with lymphangioleiomyomatosis (LAM). We wish to summarize our experience using sirolimus and its effectiveness in LAM patients.

    Authors: Yongzhong Zhan, Lisha Shen, Wenshuai Xu, Xiuxiu Wu, Weihong Zhang, Jun Wang, Xue Li, Yanli Yang, Xinlun Tian and Kai-Feng Xu

    Citation: Orphanet Journal of Rare Diseases 2018 13:34

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  9. Content type: Research

    Childhood interstitial lung disease (chILD) represents a rare heterogeneous group of respiratory disorders. In the absence of randomized controlled clinical trials, global collaborations have utilized case ser...

    Authors: Vishal Saddi, Sean Beggs, Bruce Bennetts, Joanne Harrison, Neil Hime, Nitin Kapur, Jill Lipsett, Lawrence M. Nogee, Amy Phu, Sadasivam Suresh, André Schultz, Hiran Selvadurai, Stephanie Sherrard, Roxanne Strachan, Julian Vyas, Yvonne Zurynski…

    Citation: Orphanet Journal of Rare Diseases 2017 12:133

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  10. Content type: Research

    Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder, the main manifestations of which are fibrofolliculomas, renal tumors, pulmonary cysts and recurrent pneumothorax. The known causative gene for B...

    Authors: Yaping Liu, Zhiyan Xu, Ruie Feng, Yongzhong Zhan, Jun Wang, Guozhen Li, Xue Li, Weihong Zhang, Xiaowen Hu, Xinlun Tian, Kai-Feng Xu and Xue Zhang

    Citation: Orphanet Journal of Rare Diseases 2017 12:104

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  11. Content type: Research

    Lymphangioleiomyomatosis (LAM) is included within group 5 of the current PH classification (unclear multifactorial mechanisms). However, data regarding the occurrence of PH in LAM are scarce. The aims of the s...

    Authors: Carolina S. G. Freitas, Bruno G. Baldi, Carlos Jardim, Mariana S. Araujo, Juliana Barbosa Sobral, Gláucia I. Heiden, Ronaldo A. Kairalla, Rogério Souza and Carlos R. R. Carvalho

    Citation: Orphanet Journal of Rare Diseases 2017 12:74

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  12. Content type: Letter to the Editor

    Combined methylmalonic acidemia (MMA) and homocysteinemia are a group of autosomal recessive disorders caused by inborn errors of cobalamin metabolism, including CblC, D, F, and J, with cblC being the most com...

    Authors: Jinrong Liu, Yun Peng, Nan Zhou, Xiaorong Liu, Qun Meng, Hui Xu and Shunying Zhao

    Citation: Orphanet Journal of Rare Diseases 2017 12:58

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  13. Content type: Research

    Whole lung lavage (WLL) is the current standard of care treatment for patients affected by pulmonary alveolar proteinosis (PAP). However, WLL is not standardized and international consensus documents are lacking.

    Authors: Ilaria Campo, Maurizio Luisetti, Matthias Griese, Bruce C. Trapnell, Francesco Bonella, Jan Grutters, Koh Nakata, Coline H. M. Van Moorsel, Ulrich Costabel, Vincent Cottin, Toshio Ichiwata, Yoshikazu Inoue, Antonio Braschi, Giacomo Bonizzoni, Giorgio A. Iotti, Carmine Tinelli…

    Citation: Orphanet Journal of Rare Diseases 2016 11:115

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  14. Content type: Research

    Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is a rare disease with a high mortality rate. Although nocturnal hypoventilation (NH) is central to ROHHA...

    Authors: Diana Reppucci, Jill Hamilton, E Ann Yeh, Sherri Katz, Suhail Al-Saleh and Indra Narang

    Citation: Orphanet Journal of Rare Diseases 2016 11:106

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  15. Content type: Research

    Alpha-1-antitrypsin deficiency (AATD) is an autosomal codominant inherited disease that is significantly underdiagnosed. We have previously shown that the combination of an awareness campaign with the offer of...

    Authors: Timm Greulich, Christoph Nell, Christian Herr, Claus Vogelmeier, Viktor Kotke, Stefan Wiedmann, Marion Wencker, Robert Bals and Andreas Rembert Koczulla

    Citation: Orphanet Journal of Rare Diseases 2016 11:75

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  16. Content type: Research

    Gorham-Stout disease (OMIM 123880) and generalized lymphatic anomaly are two rare disorders of lymphendothelial growth in which thoracic involvement with chylothorax is a feared complication. Currently it is b...

    Authors: Michiko Mori, Michael Dictor, Nicholas Brodszki, Juan Carlos López-Gutiérrez, María Beato, Jonas S. Erjefält and Erik A. Eklund

    Citation: Orphanet Journal of Rare Diseases 2016 11:67

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  17. Content type: Research

    KL-6, a human MUC1 mucin, is a sensitive biomarker for interstitial lung diseases including pulmonary alveolar proteinosis (PAP). A correlation between MUC1 gene single nucleotide polymorphism (SNP) rs4072037 ...

    Authors: Francesco Bonella, Xiaoping Long, Shinichiro Ohshimo, Yasushi Horimasu, Matthias Griese, Josune Guzman, Nobuoki Kohno and Ulrich Costabel

    Citation: Orphanet Journal of Rare Diseases 2016 11:48

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  18. Content type: Research

    We investigated the feasibility of using an online registry to provide prevalence data for multiple orphan lung diseases in Australia and New Zealand.

    Authors: K. Casamento, A. Laverty, M. Wilsher, J. Twiss, E. Gabbay, I. Glaspole and A. Jaffe

    Citation: Orphanet Journal of Rare Diseases 2016 11:42

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  19. Content type: Research

    An important objective on diagnosis of patients with Langerhans cell histiocytosis (LCH) is to determine the extent of disease. However, whether systematic extrathoracic investigation is needed in adult patien...

    Authors: Abdellatif Tazi, Constance de Margerie-Mellon, Laetitia Vercellino, Jean Marc Naccache, Stéphanie Fry, Stéphane Dominique, Stéphane Jouneau, Gwenaël Lorillon, Emmanuelle Bugnet, Raphael Chiron, Benoit Wallaert, Dominique Valeyre and Sylvie Chevret

    Citation: Orphanet Journal of Rare Diseases 2016 11:11

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  20. Content type: Research

    Aim of this study was to verify a systematic and practical categorization system that allows dynamic classification of pediatric DPLD irrespective of completeness of patient data.

    Authors: Matthias Griese, Armin Irnstetter, Meike Hengst, Helen Burmester, Felicitas Nagel, Jan Ripper, Maria Feilcke, Ingo Pawlita, Florian Gothe, Matthias Kappler, Andrea Schams, Traudl Wesselak, Daniela Rauch, Thomas Wittmann, Peter Lohse, Frank Brasch…

    Citation: Orphanet Journal of Rare Diseases 2015 10:122

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  21. Content type: Research

    Idiopathic pulmonary hemosiderosis (IPH) is a rare disorder of unknown etiology characterized by chronic pulmonary hemorrhage and presents with a triad of anemia, hemoptysis and pulmonary infiltrates. IPH is a...

    Authors: Chana I.C. Chin, Shirleen Loloyan Kohn, Thomas G. Keens, Monique F. Margetis and Roberta M. Kato

    Citation: Orphanet Journal of Rare Diseases 2015 10:98

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  22. Content type: Review

    Central hypoventilation syndromes (CHS) are rare diseases of central autonomic respiratory control associated with autonomous nervous dysfunction. Severe central hypoventilation is the hallmark and the most li...

    Authors: Ha Trang, Jean-François Brunet, Hermann Rohrer, Jorge Gallego, Jeanne Amiel, Tiziana Bachetti, Kenneth H Fischbeck, Thomas Similowski, Christian Straus, Isabella Ceccherini, Debra E Weese-Mayer, Matthias Frerick, Katarzyna Bieganowska, Linda Middleton, Francesco Morandi and Giancarlo Ottonello

    Citation: Orphanet Journal of Rare Diseases 2014 9:194

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  23. Content type: Research

    Pulmonary Langerhans cell histiocytosis (PLCH) is a rare disorder characterised by granulomatous proliferation of CD1a-positive histiocytes forming granulomas within lung parenchyma, in strong association with...

    Authors: Vincent Grobost, Chahera Khouatra, Romain Lazor, Jean-François Cordier and Vincent Cottin

    Citation: Orphanet Journal of Rare Diseases 2014 9:191

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  24. Content type: Research

    Alpha-1 antitrypsin (AAT) is the most abundant circulating antiprotease and is a member of the serine protease inhibitor (SERPIN) superfamily. The gene encoding AAT is the highly polymorphic SERPINA1 gene, found ...

    Authors: Ilaria Ferrarotti, Tomás P Carroll, Stefania Ottaviani, Anna M Fra, Geraldine O’Brien, Kevin Molloy, Luciano Corda, Daniela Medicina, David R Curran, Noel G McElvaney and Maurizio Luisetti

    Citation: Orphanet Journal of Rare Diseases 2014 9:172

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  25. Content type: Research

    Juvenile pulmonary alveolar proteinosis (PAP) due to CSF2RA mutations is a rare disorder with only a few cases described worldwide.

    Authors: Jenna Hildebrandt, Ebru Yalcin, Hans-Georg Bresser, Guzin Cinel, Monika Gappa, Alireza Haghighi, Nural Kiper, Soheila Khalilzadeh, Karl Reiter, John Sayer, Nicolaus Schwerk, Anke Sibbersen, Sabine Van Daele, Georg Nübling, Peter Lohse and Matthias Griese

    Citation: Orphanet Journal of Rare Diseases 2014 9:171

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  26. Content type: Research

    LAM is a rare disease of women categorised by lung cysts and lymphatic abnormalities. The disease occurs sporadically or associated with Tuberous Sclerosis Complex (TSC-LAM). Angiomyolipoma, a benign tumour, p...

    Authors: Zhao W Yeoh, Vidya Navaratnam, Rupesh Bhatt, Ian McCafferty, Richard B Hubbard and Simon R Johnson

    Citation: Orphanet Journal of Rare Diseases 2014 9:151

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