ABSTRACT
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
The authors describe the case of a 70-year-old man with primary adenocarcinoma of the fourth segment of the duodenum. Due to the infrequency of the condition there was diagnostic and therapeutic uncertainty. After the endoscopic and bioptic diagnosis three months elapsed before an incorrectly indicated derivation operation and only after another month the tumour was resected. The exhausted patient developed postoperative pancreatitis with subsequent multiorgan failure to which he succumbed. The disease should be suspected even if the symptomatology is poor. The patient suffered only from nausea and anaemia. From the diagnostic aspect endoscopic examination is most useful for the oral segment of the duodenum and double contrast examination for the aboral one. The method of treatment is duodenopancreatectomy for the upper part and segmental resection for the distal part of the duodenum.
