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Phenylketonuria and the Life with the Disease.
JÁNSKÁ, Karin
Phenylketonuria is an autosomal hereditary metabolic disorder of amino acids caused by insufficient activity of liver enzyme phenylalanine hydroxylase, which is necessary for metabolism of the essential amino acid phenylalanine to tyrosine. Obligatory newborn screening aimed at detection of the disease before development of clinical symptoms was introduced in Czechoslovakia in 1975. Increased level of phenylalanine in blood leads to an irreversible damage of the nerve system, mental retardation. Phenylketonuria is an incurable, however treatable disease, where diet with low phenylalanine content is still the only treatment. As amino acids are the building units of proteins, patients have to take proteins in the form of amino-acid products without phenylalanine. Although high phenylalanine levels lead to irreversible damages it cannot be completely eliminated from nourishment as it is necessary for the growth and development of a human. Phenylketonuria prevalence is 1:5338 in the Czech Republic as of 2013. Patients with this disease have to be dispensarized for the whole life. Women that want to become pregnant should be much more careful in adherence to the diet as sudden increase of phenylalanine in mother's blood threatens healthy development of the foetus. The thesis named Phenylketonuria and the Life with the Disease is elaborated on theoretical base by scientific methods of explanation, modelling and induction. The aim of elaboration of this topic was to map the problems related to phenylketonuria, including nursing care and the life obstacles to patients with the diagnosis. Medicine journals, e.g. Československá pediatrie, Metabolík, Výživa a potraviny, Medicína a umění, where the latest findings based on recent studies are published, were another important source of information. After studying literature specialized in the topic our task was to provide important information. The present thesis is divided into four chapters. The first chapter provides basic information on phenylketonuria. We learn how the diagnosis is classified, what its nature is, the occurrence of phenylketonuria in individual countries is described here. It outlines the history, diagnostics and developing symptoms of untreated phenylketonuria. Lifelong diet with low phenylalanine content is the basic treatment, other treatment methods are still in the research phase. The second chapter focuses on the nursing care of a patient with phenylketonuria, it outlines the role of a nurse in the care of hospitalized patients. The problems of anaesthesia are also marginally mentioned here. We can find a list of metabolomic workplaces specialized in the care of these patients in the Czech Republic. Deficits linked to adherence to low protein diet are also mentioned. The third chapter deals with diet for patients with phenylketonuria at various life stages. The last chapter describes the economic-ethical problem and current contributions of health insurers to diet products. The assigned bachelor thesis might serve as informational material in practice, as it is suitable for all those interested in the issue. If the assigned bachelor thesis outlined the nature of phenylketonuria and an individual founds answers to his/her questions there, the thesis would meet its purpose. More than eighty years have passed since the explanation of the phenylketonuria nature. Diagnostics methods have developed from the napkin test with ferric chloride to newborn screening where a blood drop is taken from new-born baby's heal on a filter paper and the phenylalanine level is consequently evaluated in a laboratory. The treatment principle however remains the same, namely consistent adherence on low protein diet to reach the optimum phenylalanine concentration in patient's blood.
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