Display options
Cite
Afroze B, Brown N. Ethical issues in managing Lysosomal storage disorders in children in low and middle income countries. Pak J Med Sci. 2017;33(4):1036-1041doi: 10.12669/pjms.334.12975.
Afroze, B., & Brown, N. (2017). Ethical issues in managing Lysosomal storage disorders in children in low and middle income countries. Pakistan journal of medical sciences, 33(4), 1036-1041. https://doi.org/10.12669/pjms.334.12975
Afroze, Bushra, and Brown, Nick. "Ethical issues in managing Lysosomal storage disorders in children in low and middle income countries." Pakistan journal of medical sciences vol. 33,4 (2017): 1036-1041. doi: https://doi.org/10.12669/pjms.334.12975
Afroze B, Brown N. Ethical issues in managing Lysosomal storage disorders in children in low and middle income countries. Pak J Med Sci. 2017 Jul-Aug;33(4):1036-1041. doi: 10.12669/pjms.334.12975. PMID: 29067088; PMCID: PMC5648935.
Copy Download .nbib Format: NLM
Share it on

Pak J Med Sci. 2017 Jul-Aug;33(4):1036-1041. doi: 10.12669/pjms.334.12975.

Ethical issues in managing Lysosomal storage disorders in children in low and middle income countries.

Pakistan journal of medical sciences

Bushra Afroze, Nick Brown

Affiliations

  1. Dr. BushraAfroze, FCPS, Department of Paediatrics& Child Health, The Aga Khan University Hospital, Karachi, Pakistan.
  2. Dr. Nick Brown, MCPCH, Department of Paediatrics, Salisbury District Hospital, Salisbury, UK.

PMID: 29067088 PMCID: PMC5648935 DOI: 10.12669/pjms.334.12975

Abstract

The lysosomal storage diseases are a group of rare, inherited metabolic diseases affecting about 1 in 7000 to 8000 people. In recent years, the introduction of enzyme replacement therapy, substrate reduction therapy and small molecule therapy, has changed the natural course of this otherwise progressive group of disorders leading to severe morbidity and early mortality. These treatment options, however, are extremely expensive and are needed for life thus presenting an economical as well as ethical challenge to the affected families and the health care system of a country. This paper presents a case for the prevention of the lysosomal storage disorders as a model for other inherited metabolic disorders in the form of antenatal testing and cascade screeningfor couples and families at risk of having affected off-springs and compares it to the cost incurred on the enzyme replacement therapy in the backdrop of the health care prioritiesof Pakistan, a low middle income country. Similar economic and ethical challenges are faced by most low and middle income countries. The literature search was done using Pubmed and Clinical trials databases using key words: "Lysosomal storage disorders", "natural course", "ethics", "cascade screening", "Thalassemia" and "cascade screening". A total of 225 articles in English language were scanned from 1980-2016, 80 articles describing the natural course of LSD with and without ERT, ethical issues related to the treatment of LSD and strategies employed for the prevention of genetic disorders were prioritized.

Keywords: Antenatal screening; Cascade screening; Ethics; Low and middle income countries; Lysosomal storage disorders; treatment

References

  1. Hemoglobin. 2007;31(2):257-64 - PubMed
  2. Orphanet J Rare Dis. 2015 Apr 18;10:46 - PubMed
  3. East Mediterr Health J. 2005 May;11(3):308-18 - PubMed
  4. J Inherit Metab Dis. 2000 Feb;23(1):77-82 - PubMed
  5. J Pak Med Assoc. 2014 Sep;64(9):1008-11 - PubMed
  6. Eur J Hum Genet. 2004 Feb;12(2):87-92 - PubMed
  7. Ann Intern Med. 2004 Jul 20;141(2):131-6 - PubMed
  8. Blood Cells Mol Dis. 1998 Mar;24(1):73-81 - PubMed
  9. Hum Genet. 1999 Jul-Aug;105(1-2):151-6 - PubMed
  10. BMJ. 2004 Nov 13;329(7475):1134-7 - PubMed
  11. J Coll Physicians Surg Pak. 2016 Jun;26(6):498-502 - PubMed
  12. Lancet. 1981 Feb 14;1(8216):369-71 - PubMed
  13. J Biosoc Sci. 1998 Apr;30(2):261-75 - PubMed
  14. Pediatrics. 2000 Jan;105(1):e10 - PubMed
  15. Medicine (Baltimore). 1992 Nov;71(6):337-53 - PubMed
  16. Nat Rev Genet. 2002 Mar;3(3):225-9 - PubMed
  17. Medicine (Baltimore). 1995 Nov;74(6):305-23 - PubMed
  18. JAMA. 1999 Jan 20;281(3):249-54 - PubMed
  19. Am J Trop Med Hyg. 2012 Nov;87(5 Suppl):137-43 - PubMed
  20. Genome Med. 2012 Mar 29;4(3):25 - PubMed
  21. Pediatr Res. 1992 May;31(5):496-502 - PubMed
  22. JIMD Rep. 2013;10:1-9 - PubMed
  23. Blood Cells Mol Dis. 1995;21(2):86-108 - PubMed
  24. Am J Med Genet C Semin Med Genet. 2009 Feb 15;151C(1):95-103 - PubMed
  25. Proc Natl Acad Sci U S A. 1993 Jun 15;90(12):5384-90 - PubMed
  26. Orphanet J Rare Dis. 2011 Nov 07;6:72 - PubMed
  27. Genet Med. 2007 Jun;9(6):372-7 - PubMed
  28. Mol Genet Metab. 2006 Jul;88(3):208-15 - PubMed
  29. Proc Natl Acad Sci U S A. 2010 Jan 26;107 Suppl 1:1779-86 - PubMed

Publication Types