- Rare diseases are those with an incidence of less than five cases per 10,000 inhabitants.
- Currently it is estimated that there are 350 million people with a problem of this type.
- From an investigation, an analysis of symptoms and a genetic examination, a new disease was identified that still has no name.
One of the objectives of continuous training within Medicine is to know the most recent innovations. In addition, there are also other benefits because thanks to this type of work, a team of specialists identified a new genetic disease and therefore it is worth knowing from its symptoms to the way it develops.
But first, what are rare diseases?
According to the World Health Organization (WHO), this term encompasses all pathologies with an incidence of less than five cases per 10,000 inhabitants. Although it seems like a small and insignificant figure, it is not really so. According to statistics, if all the patients on the planet are added, it is estimated that there are 350 million people with a problem of this type.
With this in mind, it is estimated that currently there are between six thousand and eight thousand pathologies in the world that fall into this category. Of these, 72 percent are of genetic origin and new ones are constantly being identified.
Doctors identify a new disease, what are its symptoms?
Based on an investigation of the Sant Joan de Déu hospital in Barcelona and Virgen del Rocío hospital in Seville a new genetic disease was detected. It all started with a pediatric patient who developed unexplained inflammatory involvement.
The case drew attention and the collaboration of specialists from other countries was even necessary. In this regard, the Dr Kaan Boztugof the Austrian Academy of Sciences, stated that when investigating other similar cases it was not possible to find any.
Regarding the symptoms, it causes persistent inflammation and alters the immune system, although the most relevant was when it underwent a genetic study because the possible origin was found.
According to what was published in the newspaper the worldwhat was obtained is that the child has a mutation in the gene DOCK11which produces an alteration in the formation of the cellular skeleton.
The research mentions that this alteration leads to a disorder in the regulation of the immune system that is expressed from a very early age. Among its manifestations are persistent inflammation and alteration in the formation of blood cells, as well as in the regulation of the immune system.
At the moment the patient remains under review. So far there is no cure or treatment for these types of cases, although it is hoped that ongoing research will be useful to help other young people with similar problems.
Rare diseases in Mexico
On the other hand, although there are thousands of rare diseases, at least within Mexico the General Health Council (CSG) it only officially recognizes 23.
Mucopolysaccharidosis I Hurler
Mucopolysaccharidosis II Hurler
Mucopolysaccharidosis IV Morquio
Mucopolysaccharidosis VI Maroteaux-Lamy
Type I Gaucher disease
Type II Gaucher disease
Type III Gaucher disease
Fabry’s disease
Pompe disease
turner syndrome
spina bifida
Cystic fibrosis
Hemophilia
Histiocytosis
Congenital hypothyroidism
phenylketonuria
Galactosemia
Congenital Adrenal Hyperplasia
G6PD deficiency, Glucose 6 Phosphate Dehydrogenase
Homocystinuria
Unspecified hereditary familial amyloidosis
Duchenne muscular dystrophy
spinal muscular atrophy
Also read:
Rare Diseases: Neither so few nor so unknown
This is the first Rare Disease Medical Unit in Mexico
New rare diseases recognized in Mexico: 3 added to the official catalog