As of November 26, 2013, the state of São Paulo extends the Pezinho Test for two other diseases: congenital adrenal hyperplasia (HAC) and biotinidase deficiency (DB). HAC causes poor genital formation in girls and precocious puberty in boys. The most severe form of the disease, called salt-losing, occurs in the first days of life, with vomiting, dehydration, shock and death, if the diagnosis is not made and the appropriate treatment instituted.
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Biotinidase deficiency (biotin) usually occurs from the seventh week of life with neurological and cutaneous disorders, such as epilepsy, hypotonia, microcephaly, neuropsychomotor developmental delay, alopecia and eczematous dermatitis. In patients with late diagnosis, visual, auditory, and motor and language delay are often observed.
"In the Test of the Pezinho we select the babies suspected of having this disease, but the confirmation of the diagnosis by this examination takes about 10 days. So to save sick babies - losers of salt - we need to diagnose the adrenal crisis and treat the severe dehydration, hypotension, hyponatremia and hyperpotassemia that cause death. The "gold" goal of this action is to save our newborn babies from HAC from premature death, "explains Carmela Maggiuzzo Grindler, state coordinator of the National Neonatal Screening Program of São Paulo.
In order to train physicians, nurses, social workers and psychologists working in the emergency rooms, emergency rooms, hospitals with pediatric services and basic health units that will assist these children, the State Coordination of the National Neonatal Screening Program of São Paulo promotes in the on November 12, from 2:00 p.m. to 5:00 p.m., a videoconference with a pediatrician from the Faculty of Medical Sciences (FCM) of Unicamp Gil Guerra Júnior.
According to programming, Gil Guerra will first speak about HAC, focusing on the treatment of the acute phase of congenital adrenal hyperplasia; then you will be available to talk and clarify doubts of all who attend the talk. "These are rare and very important diseases to be included in the National Neonatal Screening program," said Unicamp's FCM doctor.
The videoconference will be via telemedicine of the Hospital de Clínicas (HC) of Unicamp, through video streaming services, with chat room. It can be assisted by any health professional who has access to the internet, via link http://www.hc.unicamp.br/telessaude/index.php , clicking on Restricted Event and registering with the endocped login and password hiperplasia .
Diseases screened by Pezinho Test
The examination of the foot should be done in the first weeks of the baby's life to detect early sickness, phenylketonuria and congenital hypothyroidism. As of November 26, the examination expands the diagnosis for congenital adrenal hyperplasia and biotinidase deficiency.
Phenylketonuria : is a hereditary disease, caused by the insufficient production of the enzyme responsible for the metabolism of phenylalanine, an amino acid present in many foods; leading to its accumulation in the blood. This accumulation causes severe and irreversible lesions in the central nervous system causing the child to present signs that include mental deficiency.
Congenital hypothyroidism : is a disease caused by partial or total deficiency in the production of thyroxine (T4), a thyroid hormone essential for the normal development of every organism, including the brain. When untreated, the disease develops causing impairment of the physical development of the affected child and mental deficiency.
Sickle cell disease : it is an anemia in which red blood cells change their shape, making them look like a scythe. Hence the sickle name. These altered globules adhere to the blood vessels, causing local inflammation and making it difficult for blood to pass through the small vessels of the body, leading to pain and swelling in the joints, anemia, yellowing, infections, etc.
Biotinidase deficiency: DBT is a hereditary metabolic disorder in which there is a defect in biotin metabolism. As a consequence, depletion of the endogenous biotin occurs due to an inability of the organism to recycle it or to use the biotin bound to the dietary protein. Thus, like most inborn errors of metabolism, this disease presents an autosomal recessive inheritance, with more than 140 mutations described. Clinically, it usually manifests itself from the seventh week of life with neurological and cutaneous disorders. These are epileptic seizures, hypotonia, microcephaly, delayed neuropsychomotor development, alopecia and eczematoid dermatitis. In patients with late diagnosis, visual, auditory, and motor and language delay are often observed.
Congenital adrenal hyperplasia: congenital adrenal hyperplasia is a group of inherited autosomal recessive diseases, in which there is a reduction in the activity of one of the enzymes involved in the synthesis of cortisol. This enzymatic failure leads to virilization of female fetuses, and its most severe form, called salt-losing, is already present in the first days of life, with vomiting, dehydration and shock, leading to death if the diagnosis is not and the appropriate treatment instituted. Neonatal screening for congenital adrenal hyperplasia can therefore save lives in the salt-losing form and prevent very virilized newborn infants from being registered as male. The initial clinical signs, which are not very specific, delay the diagnosis because they are confused with other diseases such as gastroesophageal reflux, hypertrophic pyloric stenosis, urinary tract infection, septicemia and renal tubular acidosis, which may lead to death before diagnosis.