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

Aile Hekimliğinde Nadir Hastalıklara Yaklaşım

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

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