Advanced search
Publication Cover
Upsala Journal of Medical Sciences Volume 119, 2014 - Issue 1
Journal homepage
773
Views
8
CrossRef citations to date
0
Altmetric
Case Reports

Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease

Maciej MachaczkaHematology Center Karolinska, Karolinska University Hospital Huddinge, Stockholm, Sweden;Department of Medicine at Huddinge, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, SwedenCorrespondence[email protected]
,
Fryderyk LorenzDepartment of Radiation Sciences, Section of Hematology, University of Umeå, Umeå, Sweden
,
Grazina KleinotieneCentre of Hematology and Oncology, Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania
,
Agnieszka BulandaBasildon and Thurrock University Hospitals, Basildon, Essex, UK
,
Alicja Markuszewska-KuczyńskaHematology Center Karolinska, Karolinska University Hospital Huddinge, Stockholm, Sweden;Department of Radiation Sciences, Section of Hematology, University of Umeå, Umeå, Sweden
,
Juozas RaistenskisDepartment of Rehabilitation, Physical and Sports Medicine, Faculty of Medicine, Vilnius University, Vilnius, Lithuania;Children's Hospital, Affiliate of Vilnius University Hospital Santariskiu Clinics, Vilnius, Lithuania
&
Monika KlimkowskaDepartment of Clinical Pathology and Cytology, Karolinska University Hospital Huddinge, Stockholm, Sweden
 show all
Pages 44-49 | Received 26 Aug 2013, Accepted 16 Oct 2013, Published online: 06 Nov 2013

References

  • Zimran A. How I treat Gaucher disease. Blood. 2011;118:1463–71.
  • Hruska KS, LaMarca ME, Scott CR, Sidransky E. Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). Hum Mutat. 2008;29:567–83.
  • Machaczka M, Hast R, Dahlman I, Lerner R, Klimkowska M, Engvall M, et al. Substrate reduction therapy with miglustat for type 1 Gaucher disease: a retrospective analysis from a single institution. Ups J Med Sci. 2012;117:28–34.
  • Dreborg S, Erikson A, Hagberg B. Gaucher disease – Norrbottnian type. General clinical description. Eur J Pediatr. 1980;133:107–18.
  • Myers B. Gaucher's disease of the lungs. Br Med J. 1937;2:8–10.
  • Schneider EL, Epstein CJ, Kaback MJ, Brandes D. Severe pulmonary involvement in adult Gaucher's disease. Report of three cases and review of the literature. Am J Med. 1977;63:475–80.
  • Kerem E, Elstein D, Abrahamov A, Bar Ziv Y, Hadas-Halpern I, Melzer E, et al. Pulmonary function abnormalities in type I Gaucher disease. Eur Resp J. 1996;9:340–5.
  • Cox T, Lachmann R, Hollak C, Aerts J, van Weely S, Hrebicek M, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet. 2000;355:1481–5.
  • Hollak C, vom Dahl S, Aerts JM, Belmatoug N, Bembi B, Cohen Y, et al. Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease. Blood Cells Mol Dis. 2010;44:41–7.
  • Machaczka M, Klimkowska M, Hägglund H. Unexpected cure from cutaneous leukocytoclastic vasculitis in a patient treated with N-butyldeoxynojirimycin (miglustat) for Gaucher disease. Adv Med Sci. 2012;57:169–73.
  • Lee RE, Yousem SA. The frequency and type of lung involvement in patients with Gaucher's disease. Lab Invest. 1988;58:54A.
  • Machaczka M, Lerner R, Klimkowska M, Hägglund H. Treatment of multiple myeloma in patients with Gaucher disease. Am J Hematol. 2009;84:694–6.
  • Liel Y, Rudich A, Nagauker-Shriker O, Yermiyahu T, Levy R. Monocyte dysfunction in patients with Gaucher disease: evidence for interference of glucocerebroside with superoxide generation. Blood. 1994;83:2646–53.
  • Marodi L, Kaposzta R, Toth J, Laszlo A. Impaired microbicidal capacity of mononuclear phagocytes from patients with type I Gaucher disease: partial correction by enzyme replacement therapy. Blood. 1995;86:4645–9.
  • Aker M, Zimran A, Abrahamov A, Horowitz M, Matzner Y. Abnormal neutrophil chemotaxis in Gaucher disease. Br J Haematol. 1993;83:187–91.
  • Finkelstein R, Nachum Z, Reissman P, Reiss ND, Besser M, Trajber I, et al. Anaerobic osteomyelitis in patients with Gaucher's disease. Clin Infect Dis. 1992;15:771–3.
  • Berger LA, Warwick R, Mehta A. Isolated Candida infection of the pterygoid muscles in a patient with Gaucher's disease. AJR Am J Roentgenol. 2001;176:1332–3.
  • Burstein Y, Zakuth V, Rechavi G, Spirer Z. Abnormalities of cellular immunity and natural killer cells in Gaucher's disease. J Clin Lab Immunol. 1987;23:149–51.
  • Goitein O, Elstein D, Abrahamov A, Hadas-Halpern I, Melzer E, Kerem E, et al. Lung involvement and enzyme replacement therapy in Gaucher's disease. QJM. 2001;94:407–15.
  • Zimran A, Abrahamov A, Aker M, Matzner Y. Correction of neutrophil chemotaxis defect in patients with Gaucher disease by low-dose enzyme replacement therapy. Am J Hematol. 1993;43:69–71.
  • Dunn P, Kuo MC, Sun CF. Pseudo-Gaucher cells in mycobacterial infection: a report of two cases. J Clin Pathol. 2005;58:1113–14.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.