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Rare pulmonary diseases

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  1. 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

    Content type: Research

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  2. 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

    Content type: Research

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  3. 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

    Content type: Research

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  4. 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

    Content type: Research

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  5. 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

    Content type: Research

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  6. 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

    Content type: Research

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  7. 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

    Content type: Research

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  8. 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

    Content type: Research

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  9. 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

    Content type: Research

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  10. 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

    Content type: Review

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  11. 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

    Content type: Research

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  12. 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

    Content type: Research

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  13. 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

    Content type: Research

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  14. 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

    Content type: Research

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