Publication: Evolución y seguimiento de pacientes detectados en el nuevo cribado de la Comunidad de Madrid: nuestra experiencia
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2017-10-05
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Universidad Complutense de Madrid
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Abstract
El cribado neonatal por espectrometría de masas en tandem permite la detección de algunos errores congénitos del metabolismo (ECM) con el fin de iniciar un tratamiento precoz y así poder evitar morbimortalidad y discapacidades asociadas. Así mismo, permite conocer la incidencia real de los ECM que puede variar entre los diferentes países y regiones geográficas. Algunos estudios han demostrado una mejoría en la evolución clínica de algunos ECM. No obstante, algunas cuestiones quedan por aclarar. En la Comunidad de Madrid se inició el cribado ampliado en el año 2011. Objetivos: Conocer la incidencia de los ECM y la evolución clínica de los pacientes detectados mediante el nuevo cribado ampliado en la Comunidad de Madrid durante los primeros dos años desde su inicio. Pacientes y métodos: Estudio prospectivo, observacional, descriptivo. Recién nacidos derivados al Hospital Universitario 12 de Octubre, tras detectar niveles fuera de rango en el cribado neonatal ampliado desde abril del año 2011 hasta mayo de 2013. Se han recogido datos bioquímicos, genéticos, tratamiento, síntomas clínicos, episodios intercurrentes y de descompensación metabólica y valoración de neurodesarrollo. Resultados: Se ha realizado el cribado neonatal a 83.774 recién nacidos durante el periodo de estudio. 98 casos fueron remitidos por presentar alteraciones. 30 casos han sido diagnosticados de ECM. La incidencia global de ECM es 1/2.792 recién nacidos. La incidencia de aminoacidopatías es de 1/9.308 recién nacidos vivos, 1/5.235 de los trastornos de la oxidación de los ácidos grasos (FAO) y 1/16.754 de las acidurias orgánicas. Los ECM diagnosticados con más frecuencia han sido el déficit de acil-CoA deshidrogenasa de cadena media (MCADD) con una incidencia de 1/11.967, seguidos del déficit de acil-CoA deshidrogenasa de cadena muy larga (VLCADD) con 1/16.754 y la aciduria glutárica (AG1) con 1/20.943. La especificidad del cribado es del 99,92 %, y el valor predictivo positivo de la prueba es del 30,61%. Un 20% de los pacientes con ECM (6/30) presentaron algún síntoma o alteración analítica previa al resultado del cribado. El inicio del tratamiento es significativamente precoz en los pacientes diagnosticados por cribado con un mediana de 18 días (rango intercuartil: 11-31) con respecto al grupo de pacientes diagnosticados en la Unidad previo a su implantación 365 días (213-2190); p <0,001. El 83% de nuestros pacientes precisan tratamiento nutricional. Las medidas antropométricas de los pacientes estaban dentro de lo normal al inicio del tratamiento pero mejoraron durante el seguimiento. Ningún caso diagnosticado de MCADD presentó descompensación metabólica mientras que algunos pacientes con AG1 y con FAO de cadena larga presentaron descompensaciones. No exisen diferencias significativas en cuanto al número de descompensaciones ni a la edad de la primera descompensación entre ambos grupos. El 80 % de los pacientes con ECM se encontraban asintomáticos en la última visita con un periodo de seguimiento (mediana y rango) de 2,03 años (1,40-2,53). Dos pacientes (1 CACT y 1 LCHADD) fallecieron durante el primer año de vida tras una descompensación metabólica. Los casos con AG1 presentan una puntuación peor en las escalas del neurodesarrollo. Se han diagnosticado algunos ECM en las madres de recién nacidos así como en otros miembros de la familia...
Newborn scrrening (NBS) by tandem mass spectrometry can detect inborn errors of metabolism (IEM) in a presyntomatic state and know the frequences of these diseases, which is diferent between the countries. Some studies have demonstrated a better outcome in some IEM. However, some questions are unresolved, thus systematic evaluations of NBS are necessary. Expanded NBS started in Comunidad de Madrid (Spain) in 2011. Objetive: The aim of the study is to describe our experience in the expanded NBS and to define the incidence of IEM. We analyse the results of screening and follow-up during the first 2 years. We also compare the starting time of treatment between the patients diagnosed by NBS and the cohort of patients diagnosed in our unit before NBS. Patients and Methods: Newborns who showed abnormal results were referred between April, 2011 and May, 2013 to the clinical unit in Hospital 12 de Octubre (Madrid), for diagnosis and treatment. Process times for taking screening samples, obtaining results, initiating diagnostic confirmation and starting treatment as well as the outcome variables metabolic decompensations, clinical status, and neurodevelopment (intellectual development) were evaluated. Results: 98 neonates were referred to the unit. 30 patients with IEM were diagnosed from a total cohort of 83.774 neonates screened (one per 2.792 newborns). The incidence of aminoacids disorders is 1/9.308 newborns, fatty acid oxidation (FAO) disorders 1/5.235 and organic acidurias 1/16.754. The IEM mosf frecuent were medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with an incidence of 1/11.967, very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) with an incidence of 1/16.754 and glutaric aciduria type 1 (AG1) with an incidence of 1/20.943. The specificity of NBS is 99,92 % and the positive predictive rate is 30,61%. Clinical symptoms appeared before positive screening results in six patients (20%). The beginning of treatment was earlier in the group diagnosed by NBS than the group diagnosed by symptoms (p< 0,001). 83 % of patients required nutritional therapy. Anthropometric measures were normal before treatment but improved during the follow-up. None of MCADD patients had metabolic decompensations. Some patients with long chain FAO disordes and AG1 had several decompensations, however there are no statistically significant differences about the number of decompensations and the age at first decompensations between groups. After a mean observation period of 2,03 yeas (1,40-2,53), 80 % were asymptomatic. Two patients died during de first year after an acute decompensation. The AG1 patients have a worse neurodevelopment score than the remaining IEM. Mothers of neonates were diagnosed with methylcrotonilglycinuria, carnitine transport deficiency and cobalamin deficiency...
Newborn scrrening (NBS) by tandem mass spectrometry can detect inborn errors of metabolism (IEM) in a presyntomatic state and know the frequences of these diseases, which is diferent between the countries. Some studies have demonstrated a better outcome in some IEM. However, some questions are unresolved, thus systematic evaluations of NBS are necessary. Expanded NBS started in Comunidad de Madrid (Spain) in 2011. Objetive: The aim of the study is to describe our experience in the expanded NBS and to define the incidence of IEM. We analyse the results of screening and follow-up during the first 2 years. We also compare the starting time of treatment between the patients diagnosed by NBS and the cohort of patients diagnosed in our unit before NBS. Patients and Methods: Newborns who showed abnormal results were referred between April, 2011 and May, 2013 to the clinical unit in Hospital 12 de Octubre (Madrid), for diagnosis and treatment. Process times for taking screening samples, obtaining results, initiating diagnostic confirmation and starting treatment as well as the outcome variables metabolic decompensations, clinical status, and neurodevelopment (intellectual development) were evaluated. Results: 98 neonates were referred to the unit. 30 patients with IEM were diagnosed from a total cohort of 83.774 neonates screened (one per 2.792 newborns). The incidence of aminoacids disorders is 1/9.308 newborns, fatty acid oxidation (FAO) disorders 1/5.235 and organic acidurias 1/16.754. The IEM mosf frecuent were medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with an incidence of 1/11.967, very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) with an incidence of 1/16.754 and glutaric aciduria type 1 (AG1) with an incidence of 1/20.943. The specificity of NBS is 99,92 % and the positive predictive rate is 30,61%. Clinical symptoms appeared before positive screening results in six patients (20%). The beginning of treatment was earlier in the group diagnosed by NBS than the group diagnosed by symptoms (p< 0,001). 83 % of patients required nutritional therapy. Anthropometric measures were normal before treatment but improved during the follow-up. None of MCADD patients had metabolic decompensations. Some patients with long chain FAO disordes and AG1 had several decompensations, however there are no statistically significant differences about the number of decompensations and the age at first decompensations between groups. After a mean observation period of 2,03 yeas (1,40-2,53), 80 % were asymptomatic. Two patients died during de first year after an acute decompensation. The AG1 patients have a worse neurodevelopment score than the remaining IEM. Mothers of neonates were diagnosed with methylcrotonilglycinuria, carnitine transport deficiency and cobalamin deficiency...
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Tesis inédita de la Universidad Complutense de Madrid, Facultad de Medicina, Departamento de Pediatría, leída el 01-02-2016