Cribado neonatal de anemia falciforme en la Comunidad Autónoma Balear. Estudio piloto anónimo no relacionado / Neonatal screening of sickle cell disease in the Balearic Islands Autonomous Community. Pilot study in anonymous unrelated population

Introducción: La anemia falciforme, fenotipo FS, es la más común de las hemoglobinopatías estructurales. Es un trastorno hereditario causado por la presencia de hemoglobina S (HbS), resultado de una mutación puntual que afecta al codón 6 de la cadena betaglobina. En condiciones de hipoxia, se produce la polimerización de la HbS y da lugar a crisis vasoclusivas y a anemia hemolítica. Debido a que los fenómenos de inmigración han aumentado considerablemente en España y a que la mayoría de los inmigrantes pertenecen a poblaciones de riesgo para distintas hemoglobinopatías, nuestro objetivo es determinar la incidencia de la anemia falciforme y de otras hemoglobinopatías estructurales en los recién nacidos de esta Comunidad Autónoma (Islas Baleares), mediante un estudio piloto no relacionado y evaluar la necesidad de incluir esta enfermedad dentro del programa de cribado neonatal. Material y métodos: Para esto, se ha utilizado el mismo espécimen de sangre capilar usado para la detección precoz de hipotiroidismo congénito, fenilcetonuria y fibrosis quística. La separación de variantes de hemoglobina (Hb) se llevó a cabo mediante cromatografía líquida de alta resolución y se utilizó el sistema automático Variant® (Bio-Rad). Resultados: La incidencia global de variantes de Hb ha sido de 9,9 por cada 1.000 recién nacidos analizados, con una incidencia de anemia falciforme (fenotipo FS) de uno cada 6.756 casos analizados y de portadores (fenotipo FAS) de uno cada 199 casos. Conclusiones: Tanto la tasa global de variantes observadas como la incidencia de rasgo falciforme justifican plantearse la inclusión del estudio de hemoglobinopatías en el programa de cribado neonatal de la Comunidad (AU)

Introduction: Sickle cell disease (SCD) describes a group of inherited disorders caused by the presence of the sickle haemoglobin (HbS) which results from a point mutation affecting codon 6 of the â globin chain (â codon 6, Glu 6 Val).The pathophysiology involves polymerisation of HbS under low oxygen conditions causing vaso-occlusion and chronic haemolysis and anaemia. Due to increase in immigrants within our population and the majority of this group being a risk population for different haemoglobinopathies, the aim of our study is to determine the incidence of SCD and others structural haemoglobinopathies in the neonatal population of the Balearic Islands Autonomous Community, by means of an unrelated pilot study and determine the need to include this pathology in a newborn screening program. Material and methods: The study was performed with the same blood spot specimen dried on filter paper used for congenital hypothyroidism, phenylketonuria and cystic fibrosis screening. High-performance liquid chromatography (HPLC), using the VARIANTs (Biorad) automated system, was used to detect variants haemoglobin variants. Results: The overall incidence was 9.9 per 1000 specimens. The incidence of SCD was 1/6756 (FS) and the incidence of sickle cell traits was 1/199 (FAS). Conclusion: These results confirm the need to include screening for SCD and other haemoglobinopathies in our neonatal screening program (AU)

[Neonatal screening of sickle cell disease in the Balearic Islands Autonomous Community. Pilot study in anonymous unrelated population]. / Cribado neonatal de anemia falciforme en la Comunidad Autónoma Balear. Estudio piloto anónimo no relacionado.

INTRODUCTION: Sickle cell disease (SCD) describes a group of inherited disorders caused by the presence of the sickle haemoglobin (HbS) which results from a point mutation affecting codon 6 of the beta globin chain (beta codon 6, Glu 6 Val). The pathophysiology involves polymerisation of HbS under low oxygen conditions causing vaso-occlusion and chronic haemolysis and anaemia. Due to increase in immigrants within our population and the majority of this group being a risk population for different haemoglobinopathies, the aim of our study is to determine the incidence of SCD and others structural haemoglobinopathies in the neonatal population of the Balearic Islands Autonomous Community, by means of an unrelated pilot study and determine the need to include this pathology in a newborn screening program. MATERIAL AND METHODS: The study was performed with the same blood spot specimen dried on filter paper used for congenital hypothyroidism, phenylketonuria and cystic fibrosis screening. High-performance liquid chromatography (HPLC), using the VARIANTs (Biorad) automated system, was used to detect variants haemoglobin variants. RESULTS: The overall incidence was 9.9 per 1000 specimens. The incidence of SCD was 1/6756 (FS) and the incidence of sickle cell traits was 1/199 (FAS). CONCLUSION: These results confirm the need to include screening for SCD and other haemoglobinopathies in our neonatal screening program.

Calprotectina fecal como marcador diferencial entre patología gastrointestinal orgánica y funcional / No disponible

Introducción: la determinación de calprotectina en heces seestá afianzando en los últimos años como un marcador no invasivopara el diagnóstico diferencial entre patología gastrointestinalorgánica y funcional. Su uso es útil sobre todo en niños que requierenanestesia general para una colonoscopia. El objetivo deeste estudio es evaluar la sensibilidad y utilidad de la calprotectinafecal (CPF) en pacientes pediátricos con signos y síntomas sugestivosde enfermedad inflamatoria intestinal (EII) con el fin de evitartécnicas invasivas innecesarias y poder discriminar entre patologíagastrointestinal orgánica y funcional.Material y métodos: se determinó la concentración de calprotectinamediante enzimoinmunoanálisis en una única muestrade heces de 47 niños (edad media: 10,1 años) con algún síntomade patología gastrointestinal sugestivo de organicidad. Trece niñosfueron diagnosticados de patología funcional y 34 de patologíaorgánica. Entre estos, 15 con EII y el resto con patologías orgánicasde distinto origen (no-EII). Se incluyeron 13 niños sanoscomo controles.Resultados: el grupo de niños con EII presentó valores deCPF [mediana (rango interquartil); 1.219 μg/g (322-2.967)] significativamentemás altos que el grupo con patología gastrointestinalfuncional [20 μg/g (16-25); p < 0,0001], el grupo con patologíaorgánica no-EII [113 μg/g (36-193); p = 0,002] y el control[25 μg/g (19-32); p < 0,0001]. Las concentraciones también fueronmás altas en el grupo de niños con patología orgánica no-EIIrespecto al grupo con patología funcional (p = 0,002) y al control(p = 0,004). No hubo diferencias entre el grupo control y los niñoscon patología funcional (p = 0,264).Discusión: la CPF es un marcador sensible, pero no específico,que permite seleccionar pacientes con EII, que requieren colonoscopiapara el diagnóstico definitivo y evitar así pruebas invasivasa pacientes con patología gastrointestinal funcional

Introduction: there is growing evidence showing the importanceof the fecal calprotectin assay in differentiating organic fromfunctional gastrointestinal disease. It is a simple, non-invasive biomarkerthat is especially useful in children, who may require generalanesthesia for colonoscopy. The aim of this study was to assessthe use and sensitivity of fecal calprotectin (FCP) in pediatricpatients with signs and symptoms of IBD to avoid unnecessary invasivetechniques and to distinguish between organic and functionalgastrointestinal pathology.Material and methods: a single stool sample was collectedfrom 47 children (mean age: 10.1 years) referred for non-specificgastrointestinal symptoms suggestive of organicity. On the basisof clinical criteria 13 children had functional bowel disorders and34 had organic gastrointestinal disease, 15 with IBD and 19 withother organic (non-IBD) gastrointestinal conditions. Thirty healthychildren were included as controls. Calprotectin concentrationswere measured by enzyme immunoassay.Results: children with IBD had FCP levels [median (interquartilerange); 1,219 μg/g (322-2,967 μg/g)] higher than children withfunctional gastrointestinal disease [20 μg/g (16-25 μg/g); p <0.0001], those with organic non-IBD disease [113 μg/g (36-193μg/g); p = 0.002], and healthy children [25 μg/g (19.2-32.5 μg/g);p < 0.0001]. Fecal calprotectin concentration also was significantlyhigher in children with organic (non-IBD) disease as compared tocontrols (p = 0.004) and children with functional pathology (p =0.002). FCP levels were similar in controls and children with functionalgastrointestinal disease (p = 0.264).Discussion: CPF is a sensitive, but not disease-specific, markerto identify patients with IBD who should undergo diagnosticcolonoscopy, and to avoid unnecessary invasive procedures in patientswith functional gastrointestinal disorders (AU)

Calprotectina fecal como marcador diferencial entre patología gastrointestinal orgánica y funcional / Fecal calprotectin as a biomarker to distinguish between organic and functional gastrointestinal disease

Objetivo. La determinación de calprotectina en heces ha emergido en los últimos áños como un marcador no invasivo para el diagnóstico diferencial entre patología gastrointestinal orgánica y funcional. Su uso es útil sobre todo en niños que requieren anestesia general para una colonoscopia. El objetivo de este estudio es evaluar la utilidad de la calprotectina fecal (CPF) en la detección de enfermedad inflamatoria intestinal (EII) en niños con síntomas gastrointestinales inespecíficos. Diseño experimental. Se determinó la concentración de calprotectina mediante enzimoinmunoanálisis en una única muestra de heces de 47 niños (edad media: 10,1 años) con algún síntoma de patología gastrointestinal. Trece niños fueron diagnosticados de patología funcional y 34 de patología orgánica. Entre éstos, 15 con EII y el resto con patologías orgánicas de distinto origen (no-EII). Se incluyeron 13 niños sanos como controles. Resultados. El grupo de niños con EII presentó valores de CPF [mediana (rango interquartil); 1219 mg/g (322-2967)] significativamente más altos que el grupo con patología gastrointestinal funcional [20 mg/g (16-25); p<0,0001], el grupo con patología orgánica no-EII [113 mg/g (36-193); p=0,002] y el control [25 mg/g (19-32); p<0,0001]. Las concentraciones también fueron más altas en el grupo de niños con patología orgánica no-EII respecto al grupo con patología funcional (p=0,002) y al grupo control (p=0,004). No hubo diferencias entre el grupo control y los niños con patología funcional (p=0,264). Conclusiones. La CPF es un marcador sensible, pero no específico, que permite seleccionar pacientes con EII, que requieren colonoscopia para el diagnóstico definitivo y evitar así pruebas invasivas a pacientes con patología gastrointestinal funcional

Objective. Growing evidences show the importance of the fecal calprotectin assay in differentiatin organic from functional gastrointestinal disease. It is a simple and non-invasive biomarker, specially usefull in children, who may require general anaesthesia for colonoscopy. The aim of this study was to assess the use of fecal calprotectin (FCP) to detect inflammatory bowel disease (IBD) in children with non-specific gastrointestinal symptoms. Methods. A single stool sample was collected from 47 children (mean age: 10.1 years) referred for non-specific gastrointestinal symptoms. On the basis of clinical criteria, 13 children had functional bowel disorders and 34 had organic gastrointestinal pathology, of these 15 with IBD and 19 with other organic (non-IBD) gastrointestinal disease. Thirty healthy children were included as controls. Calprotectin concentrations were measured by an enzimeimmunoassay. Results. Children with IBD had FCP levels [median (interquartile range); 1219 mg/g (322-2967)] higher than children with functional gastrointestinal disease [20 mg/g](16-25); p<0.0001], those with organic non-IBD disease [113 mg/g (36-193); p=0.002] and than healthy children [25 mg/g (19.2-32.5); p<0.0001]. Calprotectin concentration also was significantly higher in children with organic (non-IBD) disease compared with controls (p=0.004) and children with functional pathology (p=0.002). FCP levels were similar in controls and children with functional gastrointestinal disease (p=0.264). Conclusion. CPF is a sensitive, but not disease specific marker, to distinguish patients with EII, who shouyld undergo diagnositc colonoscopy, and to avoid unnecesary invasive procedures in patients with functional gastrointestinal disorders

[Fecal calprotectin as a biomarker to distinguish between organic and functional gastrointestinal disease]. / Calprotectina fecal como marcador diferencial entre patología gastrointestinal orgánica y funcional.

INTRODUCTION: There is growing evidence showing the importance of the fecal calprotectin assay in differentiating organic from functional gastrointestinal disease. It is a simple, non-invasive biomarker that is especially useful in children, who may require general anesthesia for colonoscopy. The aim of this study was to assess the use and sensitivity of fecal calprotectin (FCP) in pediatric patients with signs and symptoms of IBD to avoid unnecessary invasive techniques and to distinguish between organic and functional gastrointestinal pathology. MATERIAL AND METHODS: A single stool sample was collected from 47 children (mean age: 10.1 years) referred for non-specific gastrointestinal symptoms suggestive of organicity. On the basis of clinical criteria 13 children had functional bowel disorders and 34 had organic gastrointestinal disease, 15 with IBD and 19 with other organic (non-IBD) gastrointestinal conditions. Thirty healthy children were included as controls. Calprotectin concentrations were measured by enzyme immunoassay. RESULTS: Children with IBD had FCP levels [median (interquartile range); 1,219 microg/g (322-2,967 microg/g)] higher than children with functional gastrointestinal disease [20 microg/g (16-25 microg/g); p < 0.0001], those with organic non-IBD disease [113 microg/g (36-193 microg/g); p = 0.002], and healthy children [25 microg/g (19.2-32.5 microg/g); p < 0.0001]. Fecal calprotectin concentration also was significantly higher in children with organic (non-IBD) disease as compared to controls (p = 0.004) and children with functional pathology (p = 0.002). FCP levels were similar in controls and children with functional gastrointestinal disease (p = 0.264). DISCUSSION: CPF is a sensitive, but not disease-specific, marker to identify patients with IBD who should undergo diagnostic colonoscopy, and to avoid unnecessary invasive procedures in patients with functional gastrointestinal disorders.