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关于罕见病和“超级罕见病”:来自马其顿共和国的见解。

On rare and "super-rare" diseases: an insight from the Republic of Macedonia.

作者信息

Gucev Z S, Tasic V, Polenakovic M

机构信息

Medical Faculty, Skopje, R. Macedonia.

出版信息

Prilozi. 2011;32(1):7-11.

Abstract

Rare diseases (RD) are becoming increasingly important as possible targets of new forms of treatment, as a valuable source of a novel insight in fundamental lows of biology, and in the specific mechanisms of many diseases. Molecular methods have created a better diagnosis and oftentimes treatment. RDs pose significant problem for the patients, since their problems are often not recognized by the medical community and shunned by the health insurance. The cumulative costs of diagnosis and treatment of RDs is significant for any society, oftentimes bearably acceptable for developing countries.

摘要

罕见病正日益成为新型治疗形式的重要潜在靶点,是深入了解生物学基本规律以及许多疾病具体机制的宝贵源泉。分子方法带来了更好的诊断,且常常也带来了更好的治疗。罕见病给患者带来了重大问题,因为其病症往往未被医学界所认识,且被医疗保险所回避。对任何社会而言,罕见病的诊断和治疗累计成本都很高,对发展中国家来说,这一成本往往难以承受。

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