Technique for the early detection of inherited metabolic disorders: heel prick test
Section: LEARNING TO TEACH
Authors
1Ricardo José Pérez Galán, 2Juan J. Lara Serrano, 3Alfredo Jesús Poley Guerra, 2Sara M. Palenzuela Paniagua, 3María del Castillo Palenzuela Paniagua
Position
1Enfermero. Servicio Pediatría. Centro de Salud Otero Ceuta.2Médico/a de Familia. Centro de Salud Otero Ceuta.3Enfermero/a. Dispositivo de cuidados críticos. Distrito Sur, Sevilla.
Contact email: ricardoperezgalan1@ozu.es
Abstract
The screening and early detection program of inherited metabolic disorders, known as "heel prick test", allows the diagnosis of different types of diseases at early ages. They are a set of tests with a sensitivity and specificity approaching 100%. Congenital diseases represent a major health problem in childhood as a cause of death in the first years of life and can be responsible for permanent disabilities. The main diseases to be detected, but not the only ones, are the congenital hypothyroidism and phenylketonuria. Correctly administering the test requires a basic, but essential knowledge to avoid unnecessary mistakes and discomfort to the patient in question, screening, at the same time, these diseases and reducing the morbidity and mortality associated with them.
Keywords:
heel prick test; hypothyroidism; phenylketonuriaTSH
Versión en Español
Título:
Técnica para la de detección precoz de metabolopatías congénitas: prueba de talón
