ABSTRACT
A Fibrose Cística (FC) é uma doença grave presente em nosso meio. Apesar dos avanços nos métodos diagnósticos e no tratamento do paciente, existem inúmeros casos que ainda apresentam dificuldades para a definição desta doença. Os métodos mais comuns de diagnóstico são o teste de suor e análise de mutação para confirmação. Porém uma grande parcela dos pacientes com FC é portador de uma mutação não identificada e devem ser diagnosticados por várias outras medidas de disfunções orgânicas relatadas nesse artigo. O presente trabalho teve por objetivo descrever os principais meios de diagnosticar fibrose cística e a importância de uma definição precoce para que melhores resultados terapêuticos sejam atingidos.
Cystic Fibrosis (CF) is a several disease present in our midst despite the advances in diagnostic methods and patient's treatment. Despite the improvement there are still many cases that have complicated and unclear diagnosis. There are several ways to diagnosis cystic fibrosis, being more common the sweat test and mutation analysis to confirm. However, a large proportion of CF patients has a mutation that cannot be identified. These patients should be investigated by several other measures of organ dysfunction that this article reports. This study aimed to describe the principal means of diagnosing cystic fibrosis and the importance of an appropriate definition as soon as possible for better therapeutic results.
Subject(s)
Humans , Sweat/chemistry , Clinical Laboratory Techniques/instrumentation , Cystic Fibrosis/diagnosis , DNA/analysis , Chlorides/analysis , MutationABSTRACT
A Hemocromatose Hereditária (HH) é a desordem hereditária mais comum em caucasianos. Mais de 90% dos casos de HH resultam da simples substituição do aminoácido Cisteína pela Tirosina no gene HFE. Essa mutação causa uma doença recessiva que resulta no acúmulo tissular de ferro. O mecanismo através do qual o HFE influencia a homeostase do ferro nas células e no corpo permanece obscuro. A doença é subdiagnosticada na população em geral devido à inespecificidade de sua apresentação clínica. O prognóstico envolve a detecção precoce da doença e a terapêutica adequada utilizando a flebotomia em fase oportuna. Essa revisão descreve os conceitos atuais a respeito das manifestações clínicas, fisiopatologia, prognóstico e tratamento da Hemocromatose Hereditária relacionada ao gene HFE.
Hereditary hemochromatosis (HH) is the most common inherited disorder in caucasians. Over 90% of the cases of HH result from a single mutation of a Cys to Tyr in the HFE gene. This mutation causes a recessive disease resulting in iron acumulation in selected tissues. The mechanism by which HFE influences iron homeostasis in cells and in the body remains elusive. The disease is underdiagnosed in general population due to inespecific clinical manifestations. Prognosis is related to early diagnostic and correct treatment using pheblotomy. This review describe the current concepts concerning the clinical features, pathophisiology, prognosis and treatment of HFE-related hemochromatosis hereditary.
Subject(s)
Humans , Iron Overload/genetics , Hemochromatosis Protein/genetics , Hemochromatosis/diagnosis , Hemochromatosis/genetics , Hemochromatosis/therapy , Mutation/genetics , Brazil , Phlebotomy/instrumentation , Deferoxamine/therapeutic use , White People/geneticsABSTRACT
The group of pregnant women is one of the most sensitive to anemia and they have the deleterious consequences resulting therefrom. This research aims to demonstrate the importance of making during the prenatal examinations required including complete blood count, along with the kinetics of iron. In normal pregnancy there is expansion of plasma volume of up to 40-60% and red cell mass of 20-40%, with the sixth to seventh month. Pan American Health indicate that 42% of pregnant women in Brazil would be anemic. Usually pregnant women anemia is caused by increased demand for iron, and the strategy to combat iron deficiency and iron deficiency anemia is well established, consisting briefly on the following: change in eating habits, diagnosis and treatment of causes of loss blood, infection control that contribute to anemia, food fortification and supplementation with iron salts. This study aims to evaluate the management of pregnant women with low hemoglobin in the basic health unit investigated, and verify the effectiveness of the procedures adopted by that institution to reverse the above mentioned. This was a cross-sectional study with secondary data. The data showed that the prevalence of anemia increased the hemoglobin concentration decreased with the evolution of pregnancy.