SciELO - Scientific Electronic Library Online

vol.102 issue8Allergic rhinitis in South Africa, 2012 guidelines: On Behalf of the South African Allergic Rhinitis Working Group (SAARWG) author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand



Related links

  • On index processCited by Google
  • On index processSimilars in Google


SAMJ: South African Medical Journal

On-line version ISSN 2078-5135
Print version ISSN 0256-9574


BHENGU, Louisa et al. South African guidelines for the management of Gaucher disease, 2011. SAMJ, S. Afr. med. j. [online]. 2012, vol.102, n.8, pp.697-702. ISSN 2078-5135.

BACKGROUND: Gaucher disease is an autosomal recessive lysosomal glycosphingolipid storage disorder resulting from a deficiency of lysosomal enzyme acid â-glucosidase (glucocerebrosidase). This partial enzyme deficiency results in accumulation of glycosphingolipid-laden macrophages (Gaucher cells) throughout the liver, spleen, bone marrow, skeleton, lungs and brain (only in types 2 and 3). OBJECTIVE: These guidelines aim to provide a standard of care for patients with Gaucher disease in keeping with international standards, but also realistic for South Africa, and to provide a shared-care model for treating physicians and funders regarding care for these patients. RECOMMENDATIONS: All healthcare professionals involved in the diagnosis and management of Gaucher disease should take note of and implement these guidelines in clinical practice as far as possible. VALIDATION: These guidelines were developed through consensus by the Lysosomal Storage Disorder Medical Advisory Board. They are largely based on the UK 2005 National Guidelines for Gaucher Disease, but include new treatment recommendations for enzyme replacement therapy based on subsequent publications. The Southern African Society for Human Genetics (SASHG) (who have endorsed the guidelines) and the National Osteoporosis Foundation of South Africa (NOFSA) provided valuable input. GUIDELINES SPONSOR: Genzyme initiated the project and sponsored the meetings of the Advisory Board and all costs generated by these meetings. CONCLUSION: It is intended that these guidelines will enable all patients suffering from Gaucher disease to be diagnosed and offered the best possible care available.

        · text in English     · English ( pdf )


Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License