RESUMO
The authors report their experience in populational screenings, first regarding hyperphenylalaninemias at the city of S Paulo, by own programmation. In the same aminoacidopathies detection program, a similar methodology is being used in urine, in the children's health services of the State of S. Paulo. The same urine procedure is being used to select IEM of carbohydrates and mucopolysaccharides A programme similar to the one used for hyperphenylalaninemia is being performed for the detection of congenital hypothyroidism; T4 tests were made by radioimmunoassay (RIA) microtechnique in newborns and children in the first months of life. A similar experience in the detection of heterozygotes for GM2-ganglyosidosis type I (Tay-Sach disease) by performing the hexosaminidase A test is also reported. The importance of the performing of such populational screening tests, even in underdeveloped countries is stressed. Taking into account the high cost of the maintenance of patients with mental retardation (MR0, the cost of such programmes may become a saving whenever early diagnosis and therapy can avoid the MR.
Assuntos
Programas de Rastreamento , Erros Inatos do Metabolismo/diagnóstico , Brasil , Humanos , Hipotireoidismo/diagnóstico , Lactente , Recém-Nascido , Deficiência Intelectual/etiologia , Deficiência Intelectual/prevenção & controle , Erros Inatos do Metabolismo/complicações , Fenilcetonúrias/diagnóstico , Doença de Tay-Sachs/diagnósticoRESUMO
Los autores describen la experiencia adquirida en la seleccion de programas para la poblacion general, en al deteccion de hiperfenilalaninemias, hipotiroidismo congenito, aminoacidopatias, errores congenitos del metabolismo de los hidratos de carbono, mucopolisacaridosis y neurolipidosis, en especial la GM2-gangliosidosis o enfermedad de TaySachs. Se subraya la importancia de la realizacion de estos programas en la poblacion general, teniendose en cuenta el alto costo del mantenimeinto de deficiencias mentales; en estos casos, si son detectados precozmente, las consecuencias podran evitarse o reducirs
Assuntos
Erros Inatos do Metabolismo , Brasil , Hipotireoidismo , FenilcetonúriasRESUMO
Serum TSH was studied in 22 patients with Down syndrome, from 4 to 15 years old. In 6 of these patients radioidine uptake by thyroid gland after 2 and 24 hours of administration and clearance rates before and after TSH stimulus (10 mul-IM) were measured. Results show that serum TSH was normal in 17 patients and above normal limits in 5 patients. Thyroid uptake after 2 hours as well clearance rates, both below normal, had a response to TSH stimulus with normal or below values. These data along with previous reports, suggest, that in children with Down syndrome, there is a thyroid dysfunction in which a slow response no TSH stimulus seems to be the basic defect.