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Approach to Rare Diseases in Family Medicine

Year 2017, Volume: 17 Issue: 3, 174 - 178, 27.09.2017

Gamze Bakırcı Yusuf Üstü

https://doi.org/10.17098/amj.339341

Abstract

Low prevalence, chronic, severe, life
threatening diseases are defined as "Rare diseases". These diseases
cause difficulties as they require special approaches and practices in
diagnosis, treatment and follow-up. Because of the frequency of consanguineous
marriages in our country, the risk to have rare diseases with genetic passage
is increasing. The role of family physicians in the management of these
diseases should be defined.

Keywords

Rare disease orphan drugs

References

  • Lavandeira A. Orphan drugs: legal aspects, current situation. Haemophilia. 2002;8(3):194–8.
  • European Commission. Communication from the commission to the European parliament, the council, the European economic and social committee and the committee of the regions on rare diseases: Europe's challenges. http://ec.europa.eu/health/ph_threats/non_com/docs/rare_com_en.pdf, (accessed December 12, 2011).
  • Stolk P, Willemen MJ, Leufkens HG. Rare essentials: Drugs for rare diseases as essential medicines. Bull World Health Organ 2006;84:745-51.
  • Wästfelt M, Fadeel B, Henter JI. A journey of hope: lessons learned from studies on rare diseases and orphan drugs. J Intern Med 2006;260:1–10.
  • EURORDIS. What is a rare disease? http://www.eurordis.org (accessed December 8, 2011).
  • EURORDIS. Survey of the delay in diagnosis for 8 rare diseases in Europe (Eurordiscare 2). http://archive.eurordis.org/article.php3?id_article=454 (access February 1, 2012)
  • The Independent Expert Group.' Ethical, legal and social aspects of genetic testing: research, development and clinical applications. Brussels (July, 006)< h t t p : / /ec.europa.eu.research/conferences/ 2004/genetic/report_en.htm>.(access February 10, 2012).
  • 'World Health Organization'. International Classification of Diseases. (10th revision. http://www.who.int/classifications/icd/ICD10Volume2_en_2010.pdf (access March 10, 2012).
  • Van Weely S, Leufkens HGM. Background paper: orphan diseases. In: Kaplan W, Laing R (Eds). Priority medicines for Europe and the world - a public health approach to innovation. Geneva: World Health Organization; 2004. Available from: mednet3.who.int/prioritymeds/report/index.htm. >.(access May 11, 2012).
  • Novel new drugs 2012 summary. https://www.fda.gov/downloads/drugs/developmentapprovalprocess/druginnovation/ucm381803.pdf (access May 11, 2014).
  • Aronson JK. Over-the-counter medicines. British Journal of Clinical Pharmacology 2004;58(3):231- 50.
  • Song P, Gao J, Inagaki Y, Kokudo N, Tang W. Rare diseases, orphan drugs, and their regulation in Asia: Current status and future perspectives. Intractable Rare Dis Res 2012;1(1):3–9.
  • Service RF. Orphan drugs of the future? Science 2004;303:1798.
  • Ginsburg GS, Konstance RP, Allsbroook JS, Schulman KA. Implications of pharmacogenomics for drug development and clinical practice. Arch Intern Med 2005;165:2331-6.
  • WHO Expert Committee on the Selection and Use of Essential Medicines. The selection and use of essential medi- cines: report of the WHO Expert Committee 2002. Geneva: World Health Organization; 2003. Available from: www.who.int/medicines/publications/essentialmeds_committeereports/TRS_914.pdf. (access May 8, 2017).
  • Knight AW, Senior TP. The common problem of rare disease in general practice. Med J Aust 2006;185(2):82-3.
  • Phillips WR. Zebras on the Commons: Rare Conditions in Family Practice. JABFP 2004;17(4):283-6.
  • Dundar M, Karabulut SY. Türkiye’de nadir hastaliklar ve yetim ilaclar: Medikal ve sosyal problemler. Erciyes Medical Journal 2010;32(3):195-200.
  • Canatan D. Talasemi ve Hemoglobinopatilerin Dünyada ve Türkiye'de Durumu. Turkiye Klinikleri J Hem Onc-Special Topics 2010;3(1):1-4.
  • TC Sağlık Bakanlığı Ankara İl Sağlık Müdürlüğü Resmi Sayfası. http://www.asm.gov.tr/sayfalar/567.rdx, Erişim Tarihi: 3 Mayıs 2017.

Aile Hekimliğinde Nadir Hastalıklara Yaklaşım

Year 2017, Volume: 17 Issue: 3, 174 - 178, 27.09.2017

Gamze Bakırcı Yusuf Üstü

https://doi.org/10.17098/amj.339341

Abstract

Prevalansı düşük, kronik,
ağır, yaşamı tehdit eden hastalıklar “Nadir
hastalık” olarak tanımlanmaktadır. Bu hastalıklar, tanı, tedavi ve izlemde özel
yaklaşım ve uygulamalar gerektirdiğinden zorluklara neden olur. Ülkemizde
akraba evliliğinin sık olması nedeniyle %80'i genetik geçişli olan nadir
hastalıkların görülme olasılığı artmaktadır. Aile hekimlerinin bu hastalıkların
yönetimindeki rolü tanımlanmalıdır. 

Keywords

Nadir hastalık yetim ilaçlar

References

  • Lavandeira A. Orphan drugs: legal aspects, current situation. Haemophilia. 2002;8(3):194–8.
  • European Commission. Communication from the commission to the European parliament, the council, the European economic and social committee and the committee of the regions on rare diseases: Europe's challenges. http://ec.europa.eu/health/ph_threats/non_com/docs/rare_com_en.pdf, (accessed December 12, 2011).
  • Stolk P, Willemen MJ, Leufkens HG. Rare essentials: Drugs for rare diseases as essential medicines. Bull World Health Organ 2006;84:745-51.
  • Wästfelt M, Fadeel B, Henter JI. A journey of hope: lessons learned from studies on rare diseases and orphan drugs. J Intern Med 2006;260:1–10.
  • EURORDIS. What is a rare disease? http://www.eurordis.org (accessed December 8, 2011).
  • EURORDIS. Survey of the delay in diagnosis for 8 rare diseases in Europe (Eurordiscare 2). http://archive.eurordis.org/article.php3?id_article=454 (access February 1, 2012)
  • The Independent Expert Group.' Ethical, legal and social aspects of genetic testing: research, development and clinical applications. Brussels (July, 006)< h t t p : / /ec.europa.eu.research/conferences/ 2004/genetic/report_en.htm>.(access February 10, 2012).
  • 'World Health Organization'. International Classification of Diseases. (10th revision. http://www.who.int/classifications/icd/ICD10Volume2_en_2010.pdf (access March 10, 2012).
  • Van Weely S, Leufkens HGM. Background paper: orphan diseases. In: Kaplan W, Laing R (Eds). Priority medicines for Europe and the world - a public health approach to innovation. Geneva: World Health Organization; 2004. Available from: mednet3.who.int/prioritymeds/report/index.htm. >.(access May 11, 2012).
  • Novel new drugs 2012 summary. https://www.fda.gov/downloads/drugs/developmentapprovalprocess/druginnovation/ucm381803.pdf (access May 11, 2014).
  • Aronson JK. Over-the-counter medicines. British Journal of Clinical Pharmacology 2004;58(3):231- 50.
  • Song P, Gao J, Inagaki Y, Kokudo N, Tang W. Rare diseases, orphan drugs, and their regulation in Asia: Current status and future perspectives. Intractable Rare Dis Res 2012;1(1):3–9.
  • Service RF. Orphan drugs of the future? Science 2004;303:1798.
  • Ginsburg GS, Konstance RP, Allsbroook JS, Schulman KA. Implications of pharmacogenomics for drug development and clinical practice. Arch Intern Med 2005;165:2331-6.
  • WHO Expert Committee on the Selection and Use of Essential Medicines. The selection and use of essential medi- cines: report of the WHO Expert Committee 2002. Geneva: World Health Organization; 2003. Available from: www.who.int/medicines/publications/essentialmeds_committeereports/TRS_914.pdf. (access May 8, 2017).
  • Knight AW, Senior TP. The common problem of rare disease in general practice. Med J Aust 2006;185(2):82-3.
  • Phillips WR. Zebras on the Commons: Rare Conditions in Family Practice. JABFP 2004;17(4):283-6.
  • Dundar M, Karabulut SY. Türkiye’de nadir hastaliklar ve yetim ilaclar: Medikal ve sosyal problemler. Erciyes Medical Journal 2010;32(3):195-200.
  • Canatan D. Talasemi ve Hemoglobinopatilerin Dünyada ve Türkiye'de Durumu. Turkiye Klinikleri J Hem Onc-Special Topics 2010;3(1):1-4.
  • TC Sağlık Bakanlığı Ankara İl Sağlık Müdürlüğü Resmi Sayfası. http://www.asm.gov.tr/sayfalar/567.rdx, Erişim Tarihi: 3 Mayıs 2017.
There are 20 citations in total.

Details

Subjects Health Care Administration
Journal Section Reviews
Authors

Gamze Bakırcı This is me

Yusuf Üstü

Publication Date September 27, 2017
Published in Issue Year 2017 Volume: 17 Issue: 3

Cite

APA Bakırcı, G., & Üstü, Y. (2017). Approach to Rare Diseases in Family Medicine. Ankara Medical Journal, 17(3), 174-178. https://doi.org/10.17098/amj.339341
AMA Bakırcı G, Üstü Y. Approach to Rare Diseases in Family Medicine. Ankara Med J. September 2017;17(3):174-178. doi:10.17098/amj.339341
Chicago Bakırcı, Gamze, and Yusuf Üstü. “Approach to Rare Diseases in Family Medicine”. Ankara Medical Journal 17, no. 3 (September 2017): 174-78. https://doi.org/10.17098/amj.339341.
EndNote Bakırcı G, Üstü Y (September 1, 2017) Approach to Rare Diseases in Family Medicine. Ankara Medical Journal 17 3 174–178.
IEEE G. Bakırcı and Y. Üstü, “Approach to Rare Diseases in Family Medicine”, Ankara Med J, vol. 17, no. 3, pp. 174–178, 2017, doi: 10.17098/amj.339341.
ISNAD Bakırcı, Gamze - Üstü, Yusuf. “Approach to Rare Diseases in Family Medicine”. Ankara Medical Journal 17/3 (September 2017), 174-178. https://doi.org/10.17098/amj.339341.
JAMA Bakırcı G, Üstü Y. Approach to Rare Diseases in Family Medicine. Ankara Med J. 2017;17:174–178.
MLA Bakırcı, Gamze and Yusuf Üstü. “Approach to Rare Diseases in Family Medicine”. Ankara Medical Journal, vol. 17, no. 3, 2017, pp. 174-8, doi:10.17098/amj.339341.
Vancouver Bakırcı G, Üstü Y. Approach to Rare Diseases in Family Medicine. Ankara Med J. 2017;17(3):174-8.
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