[A 56-year-old patient with Gaucher's disease sustaining a pathologic subcapital fracture of the humerus]

Janke, M; Börner, M; Mueller-Garamvölgyi, E; Hess, R (2008). [A 56-year-old patient with Gaucher's disease sustaining a pathologic subcapital fracture of the humerus]. Orthopäde, 37(3), 251-2, 254. Heidelberg: Springer-Verlag 10.1007/s00132-008-1197-5

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We present a case of a pathologic humerus fracture in a patient with the initial diagnosis of Gaucher's disease, which is the most frequent form of lipidosis transmitted as an autosomal recessive trait. It often results in orthopaedic complications with pain, osteonecrosis, fractures and joint infractions. If there is cause for suspicion, beta-glucocerebrosidase in white blood cells should be measured because of the important consequences for treatment. Therapy with a modified enzyme is effective in managing the disease.

Item Type:

Journal Article (Further Contribution)

Division/Institute:

04 Faculty of Medicine > Department of Orthopaedic, Plastic and Hand Surgery (DOPH) > Clinic of Orthopaedic Surgery
04 Faculty of Medicine > Service Sector > Institute of Pathology

UniBE Contributor:

Janke, Markus and Mueller, Esther

ISSN:

0085-4530

ISBN:

18251007

Publisher:

Springer-Verlag

Language:

German

Submitter:

Factscience Import

Date Deposited:

04 Oct 2013 15:03

Last Modified:

06 Aug 2020 07:42

Publisher DOI:

10.1007/s00132-008-1197-5

PubMed ID:

18251007

Web of Science ID:

000253993700009

BORIS DOI:

10.7892/boris.27457

URI:

https://boris.unibe.ch/id/eprint/27457 (FactScience: 107736)

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