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A patient with type 2 Gaucher's disease with respiratory disease
Uppsala University, Medicinska vetenskapsområdet, Faculty of Medicine, Department of Medical Cell Biology.
2003 In: Journal of Pediatrics, Vol. 142, no 2, 209-210 p.Article in journal (Refereed) Published
Place, publisher, year, edition, pages
2003. Vol. 142, no 2, 209-210 p.
URN: urn:nbn:se:uu:diva-94134OAI: oai:DiVA.org:uu-94134DiVA: diva2:167884
Available from: 2006-03-22 Created: 2006-03-22Bibliographically approved
In thesis
1. Ultrastructural Studies of the Airway Epithelium in Airway Diseases
Open this publication in new window or tab >>Ultrastructural Studies of the Airway Epithelium in Airway Diseases
2006 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Ultrastructural studies of airway epithelium in airway disease are important for diagnosis and understanding the underlying pathology which helps clinicians to improve the patients' treatment.

Airway biopsies from a 5-month old boy with respiratory problems and gastro-oesophageal reflux were studied by transmission electron microscopy (TEM). The tracheal columnar cells showed accumulation of lamellar bodies, indicative of lysosomal storage disease. The patient was diagnosed with Gaucher disease type 2.

Shedding of airway epithelial cells is commonly found in asthma. The attachment of these cells to the basal lamina was investigated by TEM of biopsies from patients with asthma and healthy controls. The contact area between columnar cells and basal lamina in asthmatics was significantly less than in controls. Attachment of columnar cells to the basal lamina occurs mainly indirectly, via desmosomal attachment to basal cells.

Primary ciliary dyskinesia (PCD) is a congenital disease. It is important to differentiate PCD from acquired (secondary) ciliary dyskinesia (SCD). The number of dynein arms determined by TEM was 1.5 and 1.4 for outer and inner dynein arms, respectively in PCD, versus 7.9 and 5.2 for controls and 8.1 and 5.9 in SCD. Compared to PCD patients, SCD patients have more structurally abnormal cilia. A significant difference was found in orientation of the central microtubule pair between PCD and SCD, but also overlap.

Leukotriene receptor antagonists are a new treatment for asthma. Both corticosteroids and montelukast caused apoptosis and necrosis of airway epithelial cells, and reduced the expression of intercellular adhesion molecule-1. Treatment of cells with tumor necrosis factor-α or interferon-γ reduced the fraction of the lateral cell membrane occupied by desmosomes and this effect was counteracted by corticosteroids.

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2006. 81 p.
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 123
Morphology, asthma, cilia, corticosteroids, cytokines, desmosomes, Gaucher’s disease, montelukast, primary ciliary dyskinesia, transmission electron microscopy, Morfologi
National Category
Cell and Molecular Biology
urn:nbn:se:uu:diva-6632 (URN)91-554-6492-0 (ISBN)
Public defence
2006-04-12, Rosénsalen, Ingång 96, Akademiska Sjukhuset, Uppsala, 13:15
Available from: 2006-03-22 Created: 2006-03-22Bibliographically approved

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