2015, Number 6
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Rev Mex Pediatr 2015; 82 (6)
Rare diseases
Carbajal-Rodríguez L
Language: Spanish
References: 26
Page: 207-210
PDF size: 211.26 Kb.
ABSTRACT
In general, a rare disease is one that has low prevalence in
a population. Some definitions, like the one of the European
Union, takes into account other variables, such as the severity
of the disease, or the presence or absence of specific treatments
for this condition. To give a scale of the problem, the
World Health Organization says that 7% of the population
suffers from a rare disease. It is estimated that there are five
to seven thousand identified rare diseases; from which, the
vast majority (approximately 80%) is genetic; however, there
are others in which its origin is infectious, passing through
oncological, degenerative diseases, or those that occurred
during pregnancy. These diseases can be acute or chronic,
start their symptoms at birth or during life, appearing even in
adulthood, but about 75% starts in childhood. Treatments,
especially pharmacological, have been the subject of little
research and production. For this reason, they have been
called "orphan drugs". It is estimated that approximately
4,000 of these diseases have not a curative treatment. The
aim of this article is to give a current overview of the significance that rare diseases have in the world, from clinical and economical perspectives.
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