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Rare Diseases are a group of pathologies that affect a few people, the majority from birth due to their genetic nature, and are responsible for 35 percent of deaths that occur during the first year of life.
Rare or rare diseases affect millions of children around the world. They present different symptoms, development and treatment. Taken together, the rare diseases they affect approximately 6-8 percent of the population.
On the occasion ofWorld Rare Disease Day, our site has interviewed the teacherMaria Teresa Garcia Silva, Coordinator of the Unit of Mitochondrial Diseases and Hereditary Metabolic Diseases, of the Pediatric Unit of Rare Diseases of the University Hospital 12 de Octubre, Madrid.
They are called Rare Diseases (RA) because they are rare, each disease affects only a few people. In the European Union (EU), RD are those diseases whose prevalence is less than 5 per 10,000 inhabitants, but figures of less than 2 per 10,000 are also being handled. Depending on the countries the figures vary. It is estimated that there are around 8,000 ER and that 75 percent of them are of genetic origin (there are 2,300 genes involved). A gene can have many mutations, some more common than others.
If they are considered as a whole affect approximately 6 to 8 percent of the population. There are around 3 million affected in Spain and about 20 million in the EU. It is estimated that 2/3 of the total start before the age of 2, causing 35 percent of deaths during the first year of life., 10 percent between 1 and 5 years, and 12 percent between 5 and 15 years. It has been said that 1 / 4,000 children are born sick.
An important fact that must be taken into account when talking about ER is that a defect in a certain gene can cause different diseases or even cause no symptoms, other times this defect causes different diseases.
As the definition of Rare Disease is based only on the frequency of a certain disease, depending on how the data are obtained there is difficulty in knowing exactly the incidence of a disease or group of diseases due to a common cause. On the other hand, current international population migrations contribute to modifying the prevalence.
In childhood, the most frequent genetic pathologies are 'thalassemias' (anemia of the sea), it is the most common hereditary disease in the world with around 250 million people affected. In Spain, they affect between 0.2 and 2 percent of the population (as a whole they are not rare), but there are only around a hundred diagnosed cases of 'thalassemia major'. Cystic Fibrosis is also considered frequent, for which a prevalence between 1 / 8,000 and 1 in 10,000 individuals had been estimated in Europe.
However, neonatal screening studies in Spain have shown a prevalence of 1 for every 3,449 newborns, a figure higher than those referred for Rare Diseases. Mutations in the dystrophin gene cause congenital myopathies, the more severe Duchenne disease affects 1 in 3,300 male births and the rarer Becker disease 1 in 18,000 to 31,000 male births.
It should be noted the group of innate errors of metabolism (IMD) which, taken one by one, are very rare but as a whole it is estimated that they affect between 1/500 to 1/800 live newborns. IMDs are a very broad group of diseases that, thanks to the 'extended neonatal screening test' (CNA), can be diagnosed and treated early.
Therefore, it is important to take them into account, as they are treatable causes and prenatal diagnosis and genetic counseling can be performed. Thanks to the screening test, cases are being diagnosed that could go underdiagnosed for years or even throughout the patient's life.
Marisol New. Editor of our site
You can read more articles similar to Rare Diseases. Interview with Mª Teresa García Silva, in the category of Childhood Illnesses on site.
