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publicado em 22/11/2011 às 10h00:00
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Prosecutor recommends completion of studies to expand newborn screening

Is under review include the possibility of two diseases in the test: congenital adrenal hyperplasia and biotinidase deficiency

 
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The Federal Public Ministry (MPF) in St. Paul Health Department recommended the completion of studies on the expansion of newborn screening. The folder is doing studies to add the diagnosis of two diseases in the test: congenital adrenal hyperplasia, also known as HAC (group of inherited diseases resulting from deficiency of an enzyme necessary for the production of adrenal hormones) and biotinidase deficiency ( metabolic disease in which the body can not get the vitamin biotin properly).

The adrenals have a role in regulating the metabolism of sodium, potassium, water, carbohydrates and regulate the body's reactions to stress. It works in biotin metabolism of proteins and carbohydrates.

The screening test offered by the Unified Health System (SUS) detects only four diseases: congenital hypothyroidism (a disease that prevents the body to produce thyroid hormone T4, preventing the growth and development of the newborn), phenylketonuria (genetic disorder characterized by defect or absence of the enzyme phenylalanine hydroxylase, involved in the synthesis of melanin, the pigment that gives skin, hair and eyes), hemoglobinopathies (range of diseases caused by defects in the protein hemoglobin) and cystic fibrosis (a genetic disease caused by disorder in the secretions of some glands. In affected patients, the exocrine glands produce a secretion much thicker than in normal children).

However, since there is an extended version of the test, which identifies more than 30 diseases before symptoms manifest, only available in private health care system.

MPF was also recommended by the beginning of research to include - in the program to detect diseases in the neonatal period, the National Neonatal Screening Program, the responsibility of the ministry - the pathologies glucose-6-phosphate desidronagenase or G6PD (rupture membrane of red blood cells due to the presence of oxidizing agents, such as certain drugs or food), and congenital toxoplasmosis (congenital infectious disease caused by the protozoan Toxoplasma gondii).

Toxoplasmosis is usually benign and have no symptoms, but can eventually cause loss of vision, even partially. In pregnant women, the placenta is exceeded, the contamination may reach the fetus, causing hydrocephalus and brain atrophy. With G6PD, the patient will have problems in the structure of red blood cells, cells that carry hemoglobin, which gives the characteristic red blood and carries oxygen and some carbon dioxide.

The prosecutor gave a period of 60 days for the Ministry of Health to send the final report of studies on the inclusion of CAH and biotinidase deficiency in the test. It also requested advice on how to start searching for the inclusion of G6PD and toxoplasmosis in the program within the same period.

According to the MPF, data provided by the Health Department of Santa Catarina show that currently are served 160 children with CAH in the state, and that early diagnosis would probably have saved the lives of many patients. Children diagnosed had no clinical suspicion of disease. In Santa Catarina, in addition to four diagnosis of congenital diseases, are also made in newborn screening, in addition, tests for detection of CAH, galactose and biotinidase deficiency.

Source: Isaude.net
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newborn screening    diagnosis    congenital adrenal hyperplasia    CAH    biotinidase deficiency    the Federal Public Ministry    MPF    Sao Paulo    recommendation    the Ministry of Health   
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