ABSTRACT
Abstract Phenylketonuria (PKU) is an autosomal recessive defect affecting the metabolic pathway of phenylalanine (Phe), causing hyperphenylalaninemia and neurotoxicity. Diagnosis must occur in the neonatal period and treatment should begin as early as possible. Evidence implies that treatment adherence declines as age advances. The aim was to describe the diet of a subgroup of Chilean adults with PKU currently in follow-up. Fifty-three subjects (49% women) followed up between January 2021 to April 2023 were considered. The concentration of Phe (PheC) in dried blood spots measured by fluorometry and 24-hour dietary recalls were analyzed. The median PheC of the sample was 438µmol/L (interquartile range(IQR):351-585µmol/L). A protein intake of 1.35±0.3 gr/Kg/d was observed of which 87% came from the protein substitute without Phe. Participants had a median Phe intake of 459mg/d (IQR:327-976) and 13.1g/d of fiber intake. Most participants, 51% and 92% reported consuming fruits and vegetables, respectively, and 32% consumed Low-Protein foods. Regarding micronutrients, all participants exceeded 90% adequacy according to recommendations. For vitamin-D and vitamin-B12, 100% is provided by the protein substitute. According to our results, it is mandatory to establish transition programs toward adulthood, to constantly maintain good metabolic control, and to adapt diet therapy to their new lifestyle.
ABSTRACT
Abstract Since 1992, Chile has had a Newborn Screening Program for Phenylketonuria (PKU), which currently has an incidence of 1:18,916 newborns. The objective of the current study was to describe the 2020 follow up of the Chilean PKU cohort. The variables analyzed were: nutritional status, dietary compliance and neuropsychological functioning. We conducted a descriptive cross-sectional statistical analysis. The 271 subjects with PKU had an average age of diagnosis of 17±8 days and a phenylalanine (Phe) level of 1122±546 umol/L. Approximately 80% of protein requirement came from a protein substitute. For those <18 years of age, 80% had good dietary compliance with Phe level between 120-360 umol/L and those >18 years had a median of 522 umol/L (95%CI 468 - 636). Forty-four percent of the active PKU cohort had overweight/obesity. Eighty-five percent of the cohort >4 years of age had a normal intelligence quotient (IQ) (score 80-120). We observed a negative correlation (p <0.001; 95% CI: - 0.5, -0.2) between IQ score and Phe level. The Chilean protocol and protein substitute subsidy for life, together with the follow-up and continuous education carried out by the clinical team has encouraged compliance.
ABSTRACT
Entre las prostaglandinas E2, el enprostil, compuesto sintético, posee actividad antisecretora ácida gástrica y protectora de la mucosa gastroduodenal. En este estudio abierto se evalua la eficacia de esta prostaglandina en el tratamiento de la úlcera duodenal, comprobada endoscópicamente, a dosis de 35 mcg dos veces al día, durante seis semanas sobre 30 pacientes. la cicatrización endoscópica se presentó a las 2 semanas en un 30 por ciento, ascendiendo a 60 por ciento a las 4 semanas y llegando al 83.3 por ciento a las 6 semanas. Respecto a la evaluación global, ella fue muy significativa en el 80 por ciento (24 casos tomando en cuenta evolución clínica y endoscópica, quedando únicamente 2 casos sin ninguna modificacion. Como efectos secundarios se presentó diarrea leve en 2 casos (6.7 por ciento) y en dos pacientes se debio suspender el tratamiento, uno por cólicos abdominales y diarrea y otro por astenia. La capacidad de cicatrización del medicamento obtenida en este estudio es comparable a la de otros estudios publicados. Concluyeron los investigadores que el tratamiento de la ulcera duodenal activo con enprostil es seguro y eficaz