Change search
ReferencesLink to record
Permanent link

Direct link
Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease
Umeå University, Faculty of Medicine, Department of Radiation Sciences.
Show others and affiliations
2014 (English)In: Upsala Journal of Medical Sciences, ISSN 0300-9734, E-ISSN 2000-1967, Vol. 119, no 1, 44-49 p.Article in journal (Refereed) Published
Abstract [en]

Background. The clinical presentation of Gaucher disease (GD), an inherited lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase, is highly variable, and three clinical types are distinguished based upon the presence of neurologic symptoms. Thrombocytopenia, anemia, hepatosplenomegaly, and bone manifestations are the most typical signs of GD type 1 (GD1). Case presentation. We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected. Conclusions. Symptomatic lung involvement and an increased susceptibility to pulmonary infections are uncommon in GD and, if present, are often associated with more severe disease manifestations. To our knowledge, this is the first published report on the association of GD and pulmonary aspergillosis and mycobacterial infection. It illustrates the increased susceptibility of untreated GD patients to opportunistic pulmonary infections and ineffective eradication of these infections despite adequate therapy.

Place, publisher, year, edition, pages
Informa Healthcare, 2014. Vol. 119, no 1, 44-49 p.
Keyword [en]
Aspergillosis, Aspergillus fumigatus, Gaucher disease, mycobacterial infection, Mycobacterium avium
National Category
Cancer and Oncology
URN: urn:nbn:se:umu:diva-87407DOI: 10.3109/03009734.2013.857373ISI: 000331828500007OAI: diva2:709610
Available from: 2014-04-02 Created: 2014-03-31 Last updated: 2014-04-02Bibliographically approved

Open Access in DiVA

No full text

Other links

Publisher's full text

Search in DiVA

By author/editor
Lorenz, FryderykMarkuszewska-Kuczynska, Alicja
By organisation
Department of Radiation SciencesOncology
In the same journal
Upsala Journal of Medical Sciences
Cancer and Oncology

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 39 hits
ReferencesLink to record
Permanent link

Direct link