ABSTRACT
Diagnosis and treatment of orphan (rare) diseases is an important problem of modern pediatrics due to multivarious clinical signs and severe course of this pathology. Orphan diseases are associated with accumulation, absence or insufficient synthesis of one or several metabolites in the organism. The absence of early diagnostics and treatment of patients with such diseases leads to bad prognosis. A diet is the main treatment method of many orphan diseases. A diet must be personalized and base on thorough examination of nutritional status. Individual diet therapy promotes an improvement of patient`s status and enhances an effect of other forms of treatment for compensation of metabolic disorders, decrease of complication risk and increase of life quality. The article summarizes the experience of treatment of children with orphan diseases in the Department of Pediatric Gastroenterology, Hepatology and Nutrition of Federal Research Centre for Nutrition, Biotechnology and Food Safety. 444 patients with inherited disorders of carbohydrate metabolism, lipid metabolism and more rare diseases (tyrosinemia, lysosomal acid lipase deficit, fructosemia, urea cycle disturbances, α1-antitrypsine insufficiency etc.) have been evaluated in the Department since 2008. The results of the examination and treatment of children with glycogen storage diseases (n=131), fructosemia (n=18), inherited disturbances of lipid metabolism (n=118) and other rare diseases are represented in the paper. The monitoring of nutritional status can help to correct therapy depending on character and severity of pathological process for benign course of the disease.
Subject(s)
Metabolic Diseases , Nutritional Status , Rare Diseases , Child , Child, Preschool , Female , Humans , Infant , Male , Metabolic Diseases/diet therapy , Metabolic Diseases/metabolism , Rare Diseases/diagnosis , Rare Diseases/diet therapy , Rare Diseases/metabolismABSTRACT
BACKGROUND/OBJECTIVES: Phenylketonuria (PKU) and several other inherited metabolic diseases (IMD) require a lifelong low-protein diet (LPD), otherwise they lead to many health complications. LPDs, however, carry a significant economic burden for patients and their families. The objective of this study was to explore the costs of low-protein foods (LPFs) necessary for LPD as well as dietary patterns and compliance towards an LPD. SUBJECTS/METHODS: A detailed questionnaire was created in cooperation with National Association of PKU and other IMD (NSPKU), and consequently sent to all NSPKU members treated with an LPD (n=303). A total of 184 respondents from the Czech Republic were included in the study (174 had PKU, 10 had other IMD). RESULTS: The average daily consumption of LPF was equal to 411.7 g (PKU) and 345.6 g (other IMD), which corresponds to energy value of 5558 kJ and 4438 kJ, respectively, per patient per day. Patients mostly consumed low-protein flour (≈30% of energy intake), pasta (≈18%), basic pastry (≈15%) and sweets (≈10%). The average monthly costs of LPDs were equal to [euro ]130 (PKU) and [euro ]129 (other IMD) per patient per month. The compliance with LPD was decreasing with increasing age (P<0.0001). CONCLUSIONS: This is the largest study examining costs and dietary patterns of LPDs in patients with PKU and the first study of this kind in other IMD patients requiring an LPD. The study clearly showed that an LPD carries a very high economic burden for families, which may lead to less LPD compliance and potential severe health consequences.
Subject(s)
Adolescent Nutritional Physiological Phenomena , Child Nutritional Physiological Phenomena , Cost of Illness , Diet, Protein-Restricted , Metabolism, Inborn Errors/diet therapy , Patient Compliance , Phenylketonurias/diet therapy , Adolescent , Adolescent Nutritional Physiological Phenomena/ethnology , Adult , Caregivers , Child , Child Nutritional Physiological Phenomena/ethnology , Child, Preschool , Costs and Cost Analysis , Czech Republic , Diet, Protein-Restricted/economics , Diet, Protein-Restricted/ethnology , Female , Food Supply/economics , Humans , Intellectual Disability/economics , Intellectual Disability/ethnology , Intellectual Disability/etiology , Intellectual Disability/prevention & control , Male , Metabolism, Inborn Errors/economics , Metabolism, Inborn Errors/ethnology , Metabolism, Inborn Errors/physiopathology , Patient Compliance/ethnology , Phenylketonurias/economics , Phenylketonurias/ethnology , Phenylketonurias/physiopathology , Rare Diseases/diet therapy , Rare Diseases/economics , Rare Diseases/ethnology , Rare Diseases/physiopathology , Self Report , Young AdultABSTRACT
Matthew Herder suggests it may be time to re-examine the purpose of the U.S. Orphan Drug Act.
Subject(s)
Drug Approval , Orphan Drug Production , Rare Diseases/diet therapy , United States Food and Drug Administration , Drug Approval/economics , Drug Approval/legislation & jurisprudence , Humans , Orphan Drug Production/economics , Orphan Drug Production/legislation & jurisprudence , United StatesABSTRACT
Congenital intestinal lymphangiectasis (LIP) is a protein-losing enteropathy that appears sporadically in children. It begins with edema due to hypoproteinemia and hypoalbuminemia, and in some cases with ascites, immunodeficience and hypocalcemic tetania. The purpose of this report is to present two patients with LIP which appeared during the first year of life. The diagnosis was certificated by upper gastrointestinal videoendoscopy and histological findings. Both patients were treated with a new formula containing mean chain triglycerides with an adequate response, not obtained before with a common semielemental formula.
Subject(s)
Lymphangiectasis, Intestinal/complications , Protein-Losing Enteropathies/etiology , Rare Diseases/etiology , Endoscopy, Gastrointestinal , Female , Humans , Infant , Lymphangiectasis, Intestinal/diet therapy , Male , Protein-Losing Enteropathies/diet therapy , Rare Diseases/diet therapyABSTRACT
BACKGROUND: The strict and demanding dietary treatment and mild cognitive abnormalities seen in PKU treated from a young age can be expected to affect the health-related quality of life (HRQoL) of patients and their families. Our aim was to describe the HRQoL of patients with PKU from a large international study, using generic HRQoL measures and an innovative PKU-specific HRQoL questionnaire (PKU-QOL). Analyses were exploratory, performed post-hoc on data collected primarily to validate the PKU-QOL. METHODS: A multicentre, prospective, non-interventional, observational study conducted in France, Germany, Italy, The Netherlands, Spain, Turkey and the UK. Patients diagnosed with PKU aged ≥9 years old and treated with a Phe-restricted diet and/or Phe-free amino acid protein supplements and/or pharmacological therapy were included in the study; parents of at least one patient with PKU aged <18 years were also included. HRQoL was assessed by generic measures (Pediatric Quality-of-Life Inventory; Medical Outcome Survey 36 item Short Form; Child Health Questionnaire 28 item Parent Form) and the newly developed PKU-QOL. Mean generic domain scores were interpreted using published reference values from the general population. PKU-QOL domain scores were described overall and in different subgroups of patients defined according to severity of PKU, overall assessment of patient's health status by the investigator and treatment with tetrahydrobiopterin (BH4). RESULTS: Data from 559 subjects were analysed: 306 patients (92 children, 110 adolescents, 104 adults) and 253 parents. Mean domain scores of generic measures in the study were comparable to the general population. The highest PKU-QOL impact scores (indicating greater impact) were for emotional impact of PKU, anxiety about blood Phe levels, guilt regarding poor adherence to dietary restrictions or Phe-free amino acid supplement intake and anxiety regarding blood Phe levels during pregnancy. Patients with mild/moderate PKU and those receiving BH4 reported lower practical and emotional impacts of the diet and Phe-free amino acid supplement intake. CONCLUSION: Patients with PKU showed good HRQoL in the study, both with the generic and PKU-specific measures. Negative impacts of PKU on a patient's life, including the emotional impact of PKU and its management, was delineated by the PKU-QOLs across all age groups.
Subject(s)
Phenylketonurias/diet therapy , Phenylketonurias/psychology , Quality of Life/psychology , Rare Diseases/diet therapy , Rare Diseases/psychology , Adolescent , Adult , Aged , Anxiety/etiology , Child , Cognition Disorders/etiology , Diet , Europe , Female , Health Status Indicators , Health Surveys/methods , Humans , Male , Middle Aged , Prospective Studies , Surveys and Questionnaires , Young AdultABSTRACT
We present a case of a primary cardiac lymphoma in a 60-year-old woman. The clinical presentation was non-specific and the diagnosis was suggested by its appearance on multidetector computed tomography. The final diagnosis was achieved by histopathological study and was corroborated by a decrease in tumor volume after targeted chemotherapy. A brief review of the appearance of primary cardiac lymphomas in imaging studies is presented.
