Public Health
publicado em 07/03/2013 às 21h14:00
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National consortium will expand diagnosis of primary immunodeficiencies

Estimated 250 new cases arising each year in Brazil. The vast majority die without being diagnosed

 
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It was created in the country the Brazilian Consortium Reference and Training in Primary Immunodeficiencies (PIDs). The goal is to amplify the diagnosis and treatment of these diseases, which are related to currently more than 180 genetic defects that cause the malfunction of the immune system. In case of severe PIDs, which if untreated leads to death practically all affected, it is estimated that 250 new cases arise each year in Brazil. The vast majority of people die without being diagnosed.

The group's first meeting, which brings together centers in various regions of the country, was held last March 2. The idea is to facilitate the exchange of experience between the centers and the training of human resources. In addition, we will organize the treatment offered in the Unified Health System (SUS), establishing a line of child care at various levels of assistance, said Magda Carneiro-Sampaio, Professor of Pediatrics, Faculty of Medicine, University of São Paulo (USP ).

One of the first actions of the group will, with the assistance of the Ministry of Health promotion among primary care pediatricians from a list of 12 signs that may indicate the presence of primary immunodeficiency in the first year of life, such as severe infections or persistent adverse reactions to live vaccines, congenital heart disease among others.

When doctors suspect the frontline of primary immunodeficiency should refer to a reference center for the diagnosis is made and treatment. But the main thing is to draw attention to the problem of professionals, as most of the affected children die undiagnosed, Carneiro-Sampaio explained.

<b> Data </ ​​b>

It is estimated that one in every PID acometam 1200 people worldwide. In Brazil, therefore, there should be approximately 165 000 patients, but only 3000 cases were diagnosed to date. Recently, the Department of Pediatrics (Children's Institute) and Departments of Internal Medicine and Dermatology, Faculty of Medicine, USP (USP) published an article reporting on 1008 cases of PIDs well defined, which may represent the largest number of a center isolated ever published.

"The key is to draw attention to the problem of professionals, as most of the affected children die undiagnosed"

To reduce infant mortality in Brazil, which is still high, no use just investing in vaccination campaign against polio and sanitation. This phase has passed. Now is the time of genetic diseases and improvement of neonatal care, said the teacher.

Treatment <b> </ b>

After the diagnosis, it is possible to treat patients with gammaglobulin, main replacement therapy for antibody deficiency is already well equated in public. The most serious cases have indication for transplantation of hematopoietic stem cells, treatment that is also now offered by SUS in three centers in Brazil, but whose access must be expanded. Usually we use umbilical cord cells stored in public banks, but in some cases it is possible to use stem cells from siblings. It's a great chance therapy healing, which allows the child a normal life in the future, explains Carneiro-Sampaio.

<b> neonatal Tracking </ b>

Brazil will start a pilot newborn screening for a group of diseases known as Severe Combined Immunodeficiency (SCID, its acronym in English), which gets its name because it affects both the production system B lymphocytes such as T lymphocytes, leaving babies highly susceptible to infecções.Se untreated by drugs or transplant hematopoietic stem cells in the first year of life, the disease is 100% fatal.

The pilot program will be conducted at the Hospital of the Federal University of Minas Gerais (UFMG) in the second half of 2013, with funding from the Ministry of Health and supported by the Center for Disease Control (CDC, its acronym in English), U.S.. Coordination will be Jorge Andrade Pinto, professor in the Department of Pediatrics at UFMG. We intend to evaluate 250 000 newborns participating in a neonatal screening program of Minas Gerais in an interval of 12 months. Judging by the prevalence in American studies - from 1 in 35 000 screened - we estimate find 5-10 infants with SCID and other serious linfopenias this project, said Andrade Pinto.

<i> information Fapesp </ i>

Source: Isaude.net
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Will be created in the country the Brazilian Consortium Reference and Training in Primary Immunodeficiencies (PIDs). The goal is to amplify the diagnosis and treatment of these diseases    which are related to currently more than 180 genetic defects that cause the malfunction of the immune system.   
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