Literature DB >> 18251007

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

M Janke1, M Börner, E Mueller-Garamvölgyi, R Hess.   

Abstract

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.

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Year:  2008        PMID: 18251007     DOI: 10.1007/s00132-008-1197-5

Source DB:  PubMed          Journal:  Orthopade        ISSN: 0085-4530            Impact factor:   1.087


  7 in total

Review 1.  Management of neuronopathic Gaucher disease: a European consensus.

Authors:  A Vellodi; B Bembi; T B de Villemeur; T Collin-Histed; A Erikson; E Mengel; A Rolfs; A Tylki-Szymanska
Journal:  J Inherit Metab Dis       Date:  2001-06       Impact factor: 4.982

Review 2.  Gaucher disease. New approaches to an ancient disease.

Authors:  H J Mankin; D I Rosenthal; R Xavier
Journal:  J Bone Joint Surg Am       Date:  2001-05       Impact factor: 5.284

3.  [A 32-year old male patient with pathological humeral fracture, splenomegaly and thrombocytopenia].

Authors:  E M Dürr; H C Geiss; B F Pontz; K G Parhofer
Journal:  Internist (Berl)       Date:  2004-04       Impact factor: 0.743

4.  High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews.

Authors:  A Zimran; T Gelbart; B Westwood; G A Grabowski; E Beutler
Journal:  Am J Hum Genet       Date:  1991-10       Impact factor: 11.025

5.  Bone and bone marrow changes in Gaucher disease: evaluation with quantitative CT.

Authors:  D I Rosenthal; W Mayo-Smith; M M Goodsitt; S Doppelt; H J Mankin
Journal:  Radiology       Date:  1989-01       Impact factor: 11.105

Review 6.  [Diagnosis and therapy of Gaucher disease. Current recommendations of German therapy centers in the year 2000].

Authors:  C Niederau; A Rolfs; S vom Dahl; D Häussinger; L W Poll; E Mengel; M Beck
Journal:  Med Klin (Munich)       Date:  2001-01-15

7.  MR imaging in adults with Gaucher disease type I: evaluation of marrow involvement and disease activity.

Authors:  G Hermann; R S Shapiro; I F Abdelwahab; G Grabowski
Journal:  Skeletal Radiol       Date:  1993       Impact factor: 2.199

  7 in total

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