Approach to Rare Diseases in Family Medicine

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

Öz

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. 

Anahtar Kelimeler

• Nadir hastalık,yetim ilaçlar

Kaynakça

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