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Diet for Phenylketonuria in Childhood and Its Financial Complexity
KONIAKOVSKÁ, Alena
The thesis deals with the diet of children with phenylketonuria. Phenylketonuria, its diagnostics and incidence are described in the theoretical part, it also further discusses the treatment of the disease, dietary measures as part of low-protein diet and recommended intakes of macronutrients. In last part, it focuses on the support of the individuals with phenylketonuria in the Czech Republic. The objective of the thesis was to map the diet of children with phenylketonuria and compare financial burden of low-protein diet with diet without restrictions. 10 children with phenylketonuria took part in the research. The collection of data was realized by the qualitative method using the semi-structured interview which was then processed into case studies. The meal plans sent by parents were evaluated in the Nutriservis Professional and PKU nutrition table, subsequently evaluated and similar meal plans without restrictions, containing common foods were created. In conclusion, both meal plans were compared. The analysis of the meal plans shows, that almost half of the respondents do not meet their daily energy needs. Carbohydrates are sufficiently present in the diet of children with phenylketonuria, on the contrary half of the respondents had a low fat intake. Proteins are consumed in sufficient amount, in some cases excessively. The meal plan was often monotonous. The reason could be high prices of special foods and rejection of the new ones. Low-protein products make up almost 60 % of all expenses for this diet. In summary, the diet for children with phenylketonuria is about 80 % more expensive than ordinary diet without restrictions. For half of the respondents, the health insurance contribution and the allowance for caregivers will cover all costs. For the second half, the expenses are covered only partially this way. The thesis can help increase public knowledge and awareness about the disease and its economic burden.
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School achievement in pupils with phenylketonuria
NENADÁLOVÁ, Lucie
The diploma thesis called "School Achievement in Pupils with Phenylketonuria" tries to outline the lives of people who have to face up to a hereditary metabolic disorder - phenylketonuria, subjective and objective level of school success of these individuals. The theoretical part of this thesis offers the explanation of this term, introduces its diagnostics in general, the way of treatment, the specific diet and the impact of phenylketonuria on the development of individuals. Furthermore, the theoretical part describes the school achievement in pupils with phenylketonuria, the self-view of individuals with phenylketonuria and the quality of life of these people supported by the already conducted researches. The practical part of the thesis is devoted to the case studies of individuals suffering from phenylketonuria and emphasizes their school achievement, cognitive difficulties at higher levels of phenylalanine. More generally, it follows the level of acceptance of these people to the wider environment and tries to explain how the phenylketonuria has influenced their life. The aim of this work is to map the impact of phenylketonuria on the school achievement of respondents, their inclusion in the school team and the degree of influence on their life with phenylketonuria.
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Low-protein diet and physical activity in the pre-dialysis period in patients with chronic kidney disease
Pavlínová, Kristýna ; Karbanová, Miroslava (advisor) ; Zakiyanov, Oskar (referee)
Low-protein diet is one of the methods of conservative therapies or medical treatments of chronic kidney disease in predialysis. The goal of the diet is to compensate renal dysfunction together with coverage of nutritional requirement of the patient. The diet is based on reduction or food substitution of nutrients which giving rise to metabolic complications, not on reduction of food amount in general. Dietary measures focus mainly on protein reduction to 0,6-0,8 g/kg/day. Correctly prescribed nutrition should not lead to malnutririon. More further, the diet therapy is focused on reduction of sodium, potassium and phosphorus intake. Calcium intake depends on actual calcaemia of the patient. Amount of fluid intake is prescripted by a doctor, based on diuresis. The aim of nutritional therapy is to keep optimal nutritional status of the patient and minimize complications associated to chronic kidney disease. The task of the dietitan is to educate the patient in a field of prescripted diet principles and potential risks related to protein restriction. Regular physical activity should be a part of conservative therapy in case of predialysis. Regular physical activity helps to keep muscle strength, muscle mass and physical condition of the patient. The main aim of the fieldwork was to discover aspects of...
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The diet for phenylketonuria
CHYŠKOVÁ, Michaela
There is currently no known method to cure PKU completely. With a disorder and a special type of metabolism that accompanies this disease, the individual will meet his / her whole life. This is a specific genetic notation that makes a given diagnosis in humans. For PKU is an incurable metabolic disorder, it is necessary to follow a lifelong diet that will allow normal physical, intellectual and neurological development. It has been known for more than fifty years that diet must contain a low amount of phenylalanine, thereby significantly reduces the risk of brain damage in childhood when it develops vigorously. The diet is indicated by the attending physician in cooperation with the nutritional therapist according to the tolerance values of phenylalanine in the blood. Specific blood values are determined at regular intervals, and according to phenylalanine values, the dietary plan of the individual is subsequently adjusted to suit his / her requirements and does not pose any risk to his / her health. The aim of my bachelor thesis is to map the common diet of children's patients with phenylketonuria, where each child has a different tolerance value of phenylalanine. As a result, the diet must be individually adapted and assembled. At the same time, I will be interested in possible problems and limitations that the patient may encounter and in the impacts not only on the individual, but also on the family and surroundings in which the child lives and grows up. To elaborate the practical part of my bachelor thesis I have chosen a qualitative research method in which I focused on 3 respondents. Specifically, 3 children with phenylketonuria, in the presence and cooperation of their legal representatives. I conducted an unstructured interview with them in which I was looking for detailed information about the health of the children and their eating habits. Then, I evaluated the information obtained and described it. The bachelor thesis could serve as an information material for medical staff or patients who face this disease. I found out from the interviews that no mother was prepared to have a phenylketonuria offspring. For everybody it was a shock and a new life situation, and both the whole family and the children themselves had to and still have to somehow cope with it. There is a new life stage in life, where the proper nutrition of the child is being solved for the proper development. There is a very important dietary treatment and cooperation with doctors and nutritional therapists. Diet is more expensive because special phenylketonuric products are more expensive than commonly available foods, but must be followed systematically and best with lifelong delivery of medications. If the child eats as recommended by the doctor, the development is in order and the risks of health complications are minimized.
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The diet for phenylketonuria
CHYŠKOVÁ, Michaela
There is currently no known method to cure PKU completely. With a disorder and a special type of metabolism that accompanies this disease, the individual will meet his / her whole life. This is a specific genetic notation that makes a given diagnosis in humans. For PKU is an incurable metabolic disorder, it is necessary to follow a lifelong diet that will allow normal physical, intellectual and neurological development. It has been known for more than fifty years that diet must contain a low amount of phenylalanine, thereby significantly reduces the risk of brain damage in childhood when it develops vigorously. The diet is indicated by the attending physician in cooperation with the nutritional therapist according to the tolerance values of phenylalanine in the blood. Specific blood values are determined at regular intervals, and according to phenylalanine values, the dietary plan of the individual is subsequently adjusted to suit his / her requirements and does not pose any risk to his / her health. The aim of my bachelor thesis is to map the common diet of children's patients with phenylketonuria, where each child has a different tolerance value of phenylalanine. As a result, the diet must be individually adapted and assembled. At the same time, I will be interested in possible problems and limitations that the patient may encounter and in the impacts not only on the individual, but also on the family and surroundings in which the child lives and grows up. To elaborate the practical part of my bachelor thesis I have chosen a qualitative research method in which I focused on 3 respondents. Specifically, 3 children with phenylketonuria, in the presence and cooperation of their legal representatives. I conducted an unstructured interview with them in which I was looking for detailed information about the health of the children and their eating habits. Then, I evaluated the information obtained and described it. The bachelor thesis could serve as an information material for medical staff or patients who face this disease. I found out from the interviews that no mother was prepared to have a phenylketonuria offspring. For everybody it was a shock and a new life situation, and both the whole family and the children themselves had to and still have to somehow cope with it. There is a new life stage in life, where the proper nutrition of the child is being solved for the proper development. There is a very important dietary treatment and cooperation with doctors and nutritional therapists. Diet is more expensive because special phenylketonuric products are more expensive than commonly available foods, but must be followed systematically and best with lifelong delivery of medications. If the child eats as recommended by the doctor, the development is in order and the risks of health complications are minimized.
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Specifics of nursing care for a child with phenylketonuria
DVOŘÁKOVÁ, Monika
Current situation: Research in this work, in addition to the issue of the specifics of nursing care of children with phenylketonuria, also deals with the very important area of diagnostics, dietary measure and treatment of disease. Phenylketonuria is an inherited metabolit disease which is diagnosed in the early hours of the newborn's life. Early diagnosis is very important to prevent irreversible ganges in the newborns' health. The aim of the work to assess the knowledge of nurses in nursing care of children with phenylketonuria. There was also evaluated the knowledge of parents who have children with phenylketonuria. Methodology used: A qualitative research method was used for the processing of the research. Standardized depth interview with nurses and parents of sick children with phenylketonuria were used to collect relevant data in the thesis. Interviews were recorded, transcribed, coled by the ,,pencil and paper method and then categorized. The research sample consisted nurses and parents of children with phenylketonuria. The first research sample consisted of five nurses from the Children's Department. The second reserch sample represented five parents of children diagnosed with such a disease. The research samples were selected intentionally and thein size was determined by theoretical saturation of data. Results of the research showed that nurses have a satisfactory understanding of the problems of phenylketonuria nursing care as well as they understand a dietary measure and administration of amoni acid products for children with the disease. Nurses also have satisfactory knowledge about implementation of screening tests in newborns and about the disease itself. The second surfy showed that parents who have children diagnosed with phenylketonuria have very sufficient information about the disease. Also thein awareness about diagnosing the disease is satisfactory. In general, the parents know most information about dietary measures and the amino acid supplements. Conclusions and recommendations for practice: Although phenylketonuria inchildren is not among the frequently occurring diseases, nurses have relevant knowledge on this isme and they well in practice. Relevant knowledge among parents who have children with phenylketonuria play salso a key role. The outcome of the thesis was also to create an information brochure especially designed for parents of children who have been diangnosed with phenylketonuria and for the general public. The information brochure includes a brief summary about the disease, dietary restrictions including appropriate and inappropriate food and information about treatment of the disease.
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Psychical problems of people suffering from phenylketonuria
NENADÁLOVÁ, Lucie
The bachelor thesis called "The psychical problems of people suffering from phenylketonuria" attempts to introduce the life of the people who were born with phenylketonuria diagnosis. The theoretical part of this thesis implies the explanation of the term phenylketonuria, diagnostics of this disease including treatment options. Furthermore, the theoretical part deals with psychical problems associated with phenylketonuria and its impact on education and family field. In the practical part there are examined the case studies of people who suffers from this metabolic defect. The thesis observes the quality of their lives, mentions eventual mental problems they have to cope with and describes their strategies of dealing with phenylketonuria. The aim of this thesis is to examine the impact of phenylketonuria on the psyche of the individuals and the strategies of coping with this metabolic defect.
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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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Children with Phenylketonuria in kindergarten
BLAHOVCOVÁ, Veronika
This bachelor thesis is focussed on the problematic approach towards children with metabolic disorder ? phenylketonuria in a family and an environment of kindergarten. Congenital metabolic disorders lead to lack of certain substances in organism, or, on contrary, accumulation of them. Such disorders have various clinical displays, from harmless ones (often without symptoms) thru severe handicaps of physical and mental development to life-threatening states. The thesis is focussed on approach of parent as well as kindergartener towards child and it adverts to necessary adherence to diet restrictions.
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