publicado em 09/01/2012 às 10h53:00
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Cystic fibrosis diagnosed at birth prevents sequelae in adulthood

The best way to make an early diagnosis is through newborn screening with the Guthrie test

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Early diagnosis is crucial for the treatment of cystic fibrosis, a genetic disease and that essentially has no cure, only control. The diagnosis at birth is to avoid sequelae in adulthood and the onset of chronic symptoms. For this to happen, the knowledge of this disease both in the medical field as part of the population is extremely important, says psychologist Veronica Stasiak, 25, who spent much of his childhood and teenage years living with admissions, five times a year on average to deal with what doctors thought was pneumonia only.

Only in 2009, after being hospitalized to treat pancreatitis (inflamed pancreas) Veronica was sent to perform a test dose of sweat chloride, a way of identifying cystic fibrosis. At age 23, upon receiving a positive diagnosis, had already removed two parts of the right lung, gallbladder, and after pancreatitis, part of the organ necrosis. Long periods in hospital, breathing with the help of machines.

The head of the Cystic Fibrosis Clinic of the Hospital de Clinicas of the Paraná, Mariane Canan, explains that the best way to make an early diagnosis is through newborn screening, or screening test. With it, the diagnosis is made before the development of symptoms and preventative measures can be taken to slow the progression.

Currently, only some Brazilian states undergoing tests by the SUS. The screening test is done in stages - one, two and three. Each phase makes the diagnosis of a disease. Fibrosis is seen in phase three, but for a state to perform this phase, it has to have infrastructure to deal with children. The treatment costs about U.S. $ 10 000 per month per patient reports Veronica, who created the Institute in Curitiba Disclosure of Cystic Fibrosis United for Life, with the goal of bringing people a little knowledge about the disease. The site has news, testimonials from patients, parents of people with the disease, list of supporting organizations, and interviews.

According to Veronica, the main objective is to encourage parents of infants to do the heel prick test and find out if the child has the disease. With cystic fibrosis have a life expectancy of 35 years, but the psychologist says he hopes to live many years and still counts it in lectures at universities and making schools across the country. Veronica tells how his life is after the discovery, what's changed, what difficulties, as does the anxieties and difficulties of an incentive for voluntary work. She admits that cystic fibrosis, also known as the kissing disease or cystic fibrosis salty, it is difficult to diagnose because it is usually confused with several diseases such as chronic asthma.

The main symptoms are recurrent pneumonia, chronic cough, difficulty gaining weight and stature, diarrhea, thick secretions in the lung. Because it is genetic, there are different combinations. Currently, 1722 mutations are known, which is considered by the medical profession a complicating factor.

In Brazil, are being treated, receiving drugs from SUS 3.5 billion people. In Paraná, there are 300 patients.

   Palavras-chave:   Cystic fibrosis    Early diagnosis    Treatment    Genetic disease    Sequelae    Chronic symptoms    Prenatal care    Newborn screening   
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