Tamizaje metabólico neonatal en el diagnóstico precoz de la fenilcetonuria y la importancia del proceso de atención de enfermería

Abstract

Introduction: The Neonatal Metabolic Screening is a method for the diagnosis of diseases in the newborn for the prevention of intellectual disability and early death, the Ministry of Public Health of Ecuador changed this program on December 2, 2011, in this test the phenylketonuria, a disease derived from a congenital error of autosomal dominant origin that is inherited when both parents are carriers of the altered gene, this pathology is characterized by the fact that the individual does not produce phenylalanine hydroxylase, an essential element for the sintering of amino acids, which are present in greater amount in the food group, especially proteins, the accumulation of phenylalanine triggers neurotoxicity, damaging the nervous system and causing intellectual disability. Kristen Swanson's theory of care seeks to restore the balance between the person cared for and their caregiver, taking as a reference the metaparadigms that form a bond of affective appreciation that makes the caregiver feel a responsibility to take care of the patient's needs. Objective: Analyze congenital and hereditary conditions through neonatal metabolic screening and timely diagnosis of phenylketonuria and the application of the nursing care process. Method: A descriptive, analytical study is carried out, studying the needs of the study subject to design a plan of interventions and activities to improve the clinical picture of the patient