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Heterozygous defects in genes implicated in Progressive Familial Intrahepatic Cholestasis have been described in milder forms of cholestatic diseases. Our aim is to describe clinical, laboratory and imaging characteristics as well as treatment and outcome of a cohort of pediatric patients with heterozygous mutations in ATP8B1, ABCB11 or ABCB4.We present a retrospective descriptive study including pediatric patients with at least one heterozygosis defect in ATP8B1, ABCB11 or ABCB4 diagnosed after a cholestatic episode. Clinical, diagnostic and outcome data were collected including gene analysis (panel of PFIC NextGeneDx®).7 patients showed a heterozygous mutation: 3 patients in ABCB4, 1 in ABCB11, 2 in ABCB4 and ABCB11 and 1 in ATP8B1. The median onset age was 5.5 years with a median time of follow-up of 6 years. The initial presentation was pruritus followed by asymptomatic hypertransaminasemia and persistent cholestasis. Two patients had family history of gallbladder stones and mild hepatitis. All showed elevated transaminases and bile acids, high gamma glutamyl-transferase (GGT) in 3 and conjugated bilirubin in 2 patients. Liver biopsy showed inflammatory infiltrate or mild fibrosis with normal immunohistochemistry. All patients were treated with ursodeoxycholic acid, two patients requiring the addition of resincholestyramine. During follow-up, 3 patients suffered limited relapses of pruritus. No disease progression was observed.Heterozygous mutations in genes coding proteins of the hepatocellular transport system can cause cholestatic diseases with great phenotypic variability. The presence of repeated episodes of hypertransaminasemia or cholestasis after a trigger should force us to rule out the presence of these heterozygous mutations in genes involved in CIFP.

To assess the short- and long-term efficacy of proton pump inhibitor (PPI) therapy for pediatric eosinophilic esophagitis (EoE) in real-world practice with a step-down strategy, and to evaluate factors predictive of PPI responsiveness.We collected data regarding the efficacy of PPIs during this cross-sectional analysis of the prospective nationwide RENESE registry. Children with EoE treated with PPI monotherapy were included. Histological remission was defined as a peak eosinophilic count of15 eosinophils (eos)/high-power field (hpf). Factors associated with PPI responsiveness were identified using multivariate logistic regression analysis.After induction therapy, histological and clinico-histological remission were observed in 51.4% (n=346) and 46.5% of children, respectively. Normal endoscopic appearance of the esophagus was associated with a higher possibility (odds ratio [OR], 9.20; 95% confidence interval [CI], 2.10-40.16), and fibrostenotic phenotype was associated with a lower possibility (OR, 0.36; 95% CI, 0.18-0.74) of histological remission. Long-term therapy with a step-down strategy effectively maintained histological remission in 68.5% and 85.3% of children at 7 months (n=108) and 16 months (n=34), respectively. Complete initial histological remission (≤5 eos/hpf) was associated with a higher possibility of sustained histological remission (OR, 5.08; 95% CI, 1.75-14.68). Adverse events were infrequent and mild.We confirmed the efficacy of PPIs for a large cohort of children with EoE with sustained histological remission using a step-down strategy. Children with fibrostenotic phenotypes are less likely to respond to induction therapy. Furthermore, patients with complete initial histological remission are more likely to experience long-term histological remission.

Ingestion of lead material represents a therapeutic challenge involving high toxicity, significant clinical impact, and controversy regarding management. We report the case of a 2-year-old girl, who accidentally ingested a fishing sinker. She remained asymptomatic and first level tests were performed (blood lead levels and x-ray to locate object). Because of sinker location in the jejunum, two rectal enemas and polyethylene glycol (PEG) were administered, serial blood lead level measurements were performed. Because of sinker persistence, a colonoscopy was undertaken. She did not require chelation treatment. However, she required follow-up to monitor long-term toxicity and sequels.

The objective of this study was to assess the association between serological markers and changes of the intestinal mucosa in children with celiac disease (CD).Clinical data from CD patients under 15 years old were collected from the participating centers in an on-line multicenter nationwide observational Spanish registry called REPAC-2 (2011-2017). Correlation between anti-tissue transglutaminase antibodies (t-TGA) levels and other variables, including mucosal damage and clinical findings (symptoms, age, and gender), was assessed.A total of 2955 of 4838 patients had t-TGA and a small bowel biopsy (SBB) performed for CD diagnosis. A total of 1931 (66.2%) patients with normal IgA values had a Marsh 3b-c lesion and 1892 (64.9%) had t-TGA Immunoglobulin A (IgA) ≥ 10 times upper limit of normal (ULN). There is a statistically significant association between t-TGA IgA levels and the degree of mucosal damage ( P0.001), the higher the t-TGA IgA levels the more severe the mucosal damage. Those patients who reported symptoms had more severe mucosal damage ( P = 0.001). On the contrary, there was a negative association between age and changes of the intestinal mucosa ( P0.001). No association was found with gender. Regarding the IgA-deficient patients, 47.4% (18 cases) had t-TGA Immunoglobulin A (IgA) ≥ 10 times ULN and a Marsh 3b-c lesion was observed in 68.4% (26 patients). No statistical relation was found between t-TGA IgG levels and the changes of the intestinal mucosa, neither a relation with age, gender, or symptoms.There is a positive correlation between t-TGA IgA levels and the severity of changes of the intestinal mucosa. Such correlation was not found in IgA-deficient patients who had positive t-TGA IgG serology. The results in this group of patients support the European Society for Paediatric Gastroenterology, Hepatology, and Nutrition recommendations about the need of performing a SBB in IgA-deficient individuals despite high t-TGA IgG levels.

Introduction: Although changes in liver function tests can be non-specific in numerous clinical conditions, they can be the first sign of a potentially serious disease in an asymptomatic patient. Material and methods: Retrospective cohort study, performed by reviewing the records of children of a reference hospital central laboratory with alanine aminotransferase enzyme (ALT) elevation during a 6-month aleatory period. Results: 572 blood tests with serum ALT elevation corresponding to 403 patients have been assessed during the period studied. 98 patients were excluded for presenting abnormal liver test before the study period of comorbidity that could produce ALT elevation. The remaining 305 patients, 22.6% were diagnosed with a medical condition during the first blood test that explained the ALT elevation, although only 33.3% of them were followed up until verifying their normalisation. Final study sample consists of 236 patients with abnormal liver test without apparent liver disease. Adequate follow-up was found only in 29% of them. From this group, 9 patients (13%) were diagnosed with liver disease. The rest of the samples were not properly monitored. In patients with higher serum ALT levels, follow-up was early and more appropriate. Conclusions: In our area, most children without apparent liver disease are no properly monitored. Therefore, an opportunity to diagnosis and treat a potential liver disease was lost in a great number of children. All children with unexplained hypertransaminasaemia must be studied. Resumen: Introducción: Las alteraciones del perfil hepático constituyen un hecho inespecífico propio de numerosas condiciones clínicas. Sin embargo, puede implicar la primera manifestación de una patología potencialmente grave en un paciente asintomático. Material y métodos: Estudio observacional retrospectivo que incluye todas las analíticas sanguíneas con elevación de alanino aminotransferasa (ALT) en pacientes pediátricos solicitadas en un sector sanitario en un período de 6 meses. Resultados: Se registraron 572 analíticas correspondientes a 403 pacientes. Se excluyeron 98 pacientes con hipertransaminasemia ya conocida o comorbilidad. De los 305 restantes, el 22,6% se diagnosticaron de patología asociada a hipertransaminasemia, y de estos, se comprobó normalización en el 33,3%. De los 236 pacientes con hipertransaminasemia sin justificar se realizó un seguimiento en el 29%, encontrando patología hepática en 9 pacientes (13% del grupo). En el resto de la muestra no se comprobó analíticamente la evolución de las transaminasas ni la presencia de posible patología hepática. Los pacientes con cifras más elevadas se controlan mejor y antes que los que presentan cifras más bajas. Conclusiones: En nuestra área, la mayoría de los niños sin enfermedad hepática aparente con hallazgo de ALT elevada no son adecuadamente controlados. Esto hace que se pierda una oportunidad única de diagnosticar y tratar precozmente una enfermedad hepática potencial en un gran número de niños. Todo niño con hipertransaminasemia inexplicada debe ser estudiado.

Objectives The aim of the study was to describe the experience with teduglutide of several Spanish hospitals in pediatric patients with SBS (SBS). Methods Seventeen pediatric patients with intestinal failure associated with SBS were treated with teduglutide. Patients received 0.05 mg · kg · day of subcutaneous teduglutide. Patients' demographics and changes in parenteral nutrition (PN) needs, fecal losses, and citrulline level initially and at 3, 6, and 12 months were collected, as well as any adverse events. Results Patients were receiving 55 ml · kg · day and 33 kcal · kg · day of parenteral supplementation on average at baseline (2 patients received only hydroelectrolytic solution). A total of 12/17 patients achieved parenteral independence: 3 patients after 3 months of treatment, 4 patients at 6 months, and 5 after 12 months. One patient discontinued treatment 1 year after the beginning as no changes in parenteral support or fecal losses were obtained. All others decreased their intravenous requirements by 50%. One patient suffered an episode of cholecystitis, and another one with a pre-existing cardiac disease, developed a cardiac decompensation. Conclusions Teduglutide seems to be a safe and effective treatment in the pediatric SBS population with better results than in the pivotal study as well as in the adult population.

Introduction: Cerebral palsy (CP) is the most frequent cause of motor disability in the paediatric age. The aim of this article is the study of the nutritional status of patients with CP followed-up in a reference hospital, as well as the relationship between neurological and nutritional state. Material and methods: A cross-sectional, observational, descriptive and analytical study was conducted on a sample consisting of 4–15 year old patients with CP with Gross Motor Function Classification System (GMFCS) grades III–IV–V, from a specialised paediatric hospital reference area. An interview (collection of general data, medications and nutritional habits), anthropometric study and bioimpedance (BIA) measurements were carried out. Results: The study included 69 patients (recruitment 84.15%), with a mean age of 10.46 ± 0.43 years, and 50.7% females. The distribution according to GMFCS scale was: grade III (36.2%), grade IV (29%), and grade V (34.8%). According to weight for height: moderate malnutrition 21.8% (grade V: 33.3%), severe malnutrition 5.8% (grade V: 12.6%), overweight/obesity 23.2% (grade III: 24%, grade IV: 35%). Adequate level of lean mass for height: grade III (36%), grade IV (55%), and grade V (16.7%). Fat excess: grade III (36%), grade IV (40%), and grade V (29.2%). Fat mass comparison: BIA 6.89 ± 0.64 kg versus anthropometry 5.56 ± 4.43 kg. Conclusions: In CP grade GMFCS V, the weight deficit associated with a decrease in lean body mass is common. Patients with CP grades GMFCS III–IV have a significant prevalence of overweight/obesity. Anthropometry is a useful tool for nutritional assessment in children with CP, although fat levels could be underestimated. Resumen: Introducción: La parálisis cerebral (PC) es la causa más frecuente de discapacidad motora en edad pediátrica. El objetivo es estudiar la situación nutricional de los pacientes con PC controlados en una unidad de referencia, así como la relación entre la afectación neurológica y nutricional. Material y métodos: Estudio transversal, observacional, descriptivo y analítico en el que se han incluido pacientes con PC con grados III–IV–V (GMFCS) procedentes del área de influencia de un hospital pediátrico de referencia, con edades de 4–15 años. Se ha realizado: encuesta (con recogida de datos generales, medicaciones y hábitos nutricionales), estudio antropométrico y bioimpedanciometría (BIA). Resultados: N = 69 pacientes (reclutamiento 84,15%). Edad media 10,46 ± 0.43 años, el 50,7% mujeres. Distribución según GMFCS: grado III (36,2%), grado IV (29%), grado V (34,8%). Según el peso para la talla: desnutrición moderada el 21,8% (grado V: 33,3%), desnutrición grave el 5,8% (grado V: 12.6%), sobrepeso/obesidad el 23,2% (grado III: 24%; grado IV: 35%). Nivel adecuado de masa magra para su talla: grado III (36%), grado IV (55%), grado V (16,7%). Exceso de grasa: grado III (36%), grado IV (40%), grado V (29,2%). Comparación de masa grasa: BIA 6,89 ± 0,64 kg Vs antropometría 5,56 ± 4,43 kg. Conclusiones: En PC grado GMFCS V es frecuente el déficit de peso asociado a disminución de masa magra para su talla. Los pacientes con PC grados GMFCS III-IV presentan una prevalencia llamativa de sobrepeso/obesidad. La antropometría es una herramienta útil para la valoración nutricional en niños con PC, aunque los niveles de grasa tienden a infravalorarse.

Resumen: Introducción: La parálisis cerebral (PC) es la causa más frecuente de discapacidad motora en la edad pediátrica. El objetivo es estudiar la situación nutricional de los pacientes con PC controlados en una unidad de referencia, así como la relación entre la afectación neurológica y la nutricional. Material y métodos: Estudio transversal, observacional, descriptivo y analítico en el que se han incluido pacientes con PC con grados III-IV-V (GMFCS) procedentes del área de influencia de un hospital pediátrico de referencia, con edades de 4-15 años. Se ha realizado: encuesta (con recogida de datos generales, medicaciones y hábitos nutricionales), estudio antropométrico y bioimpedanciometría (BIA). Resultados: El estudio incluyó 69 pacientes (reclutamiento 84,15%). Edad media 10,46 ± 0,43 años, el 50,7% mujeres. Distribución según GMFCS: grado III (36,2%), grado IV (29%), grado V (34,8%). Según el peso para la talla: desnutrición moderada el 21,8% (grado V: 33,3%), desnutrición grave el 5,8% (grado V: 12,6%), sobrepeso/obesidad el 23,2% (grado III: 24%; grado IV: 35%). Nivel adecuado de masa magra para su talla: grado III (36%), grado IV (55%), grado V (16,7%). Exceso de grasa: grado III (36%), grado IV (40%), grado V (29,2%). Comparación de masa grasa: BIA 6,89 ± 0,64 kg versus antropometría 5,56 ± 4,43 kg. Conclusiones: En PC grado GMFCS V es frecuente el déficit de peso asociado a disminución de masa magra para su talla. Los pacientes con PC grados GMFCS III-IV presentan una prevalencia llamativa de sobrepeso/obesidad. La antropometría es una herramienta útil para la valoración nutricional en niños con PC, aunque los niveles de grasa tienden a infravalorarse. Abstract: Introduction: Cerebral palsy (CP) is the most frequent cause of motor disability in the paediatric age. The aim of this article is the study of the nutritional status of patients with CP followed-up in a reference hospital, as well as the relationship between neurological and nutritional state. Material and methods: A cross-sectional, observational, descriptive and analytical study was conducted on a sample consisting of 4-15 years old patients with CP with Gross Motor Function Classification System (GMFCS) grades III-IV-V, from a specialised paediatric hospital reference area. An interview (collection of general data, medications and nutritional habits), anthropometric study and bioimpedance (BIA) measurements were carried out. Results: The study included 69 patients (recruitment 84.15%), with a mean age of 10.46 ± 0.43 years, and 50.7% females. The distribution according to GMFCS scale was: grade III (36.2%), grade IV (29%), and grade V (34.8%). According to weight for height: moderate malnutrition 21.8% (grade V: 33.3%), severe malnutrition 5.8% (grade V: 12.6%), overweight/obesity 23.2% (grade III: 24%, grade IV: 35%). Adequate level of lean mass for height: grade III (36%), grade IV (55%), and grade V (16.7%). Fat excess: grade III (36%), grade IV (40%), and grade V (29.2%). Fat mass comparison: BIA 6.89 ± 0.64 kg versus anthropometry 5.56 ± 4.43 kg. Conclusions: In CP grade GMFCS V, the weight deficit associated with a decrease in lean body mass is common. Patients with CP grades GMFCS III-IV have a significant prevalence of overweight/obesity. Anthropometry is a useful tool for nutritional assessment in children with CP, although fat levels could be underestimated.

Adalimumab; Infliximab; Pharmacogenetics Adalimumab; Infliximab; Farmacogenètica Adalimumab; Infliximab; Farmacogenética The genetic polymorphisms rs2395185 and rs2097432 in HLA genes have been associated with the response to anti-TNF treatment in inflammatory bowel disease (IBD). The aim was to analyze the association between these variants and the long-term response to anti-TNF drugs in pediatric IBD. We performed an observational, multicenter, ambispective study in which we selected 340 IBD patients under 18 years of age diagnosed with IBD and treated with anti-TNF drugs from a network of Spanish hospitals. Genotypes and failure of anti-TNF drugs were analyzed using Kaplan-Meier curves and Cox logistic regression. The homozygous G allele of rs2395185 and the C allele of rs2097432 were associated with impaired long-term response to anti-TNF drugs in children with IBD after 3 and 9 years of follow-up. Being a carrier of both polymorphisms increased the risk of anti-TNF failure. The SNP rs2395185 but not rs2097432 was associated with response to infliximab in adults with CD treated with infliximab but not in children after 3 or 9 years of follow-up. Conclusions: SNPs rs2395185 and rs2097432 were associated with a long-term response to anti-TNFs in IBD in Spanish children. Differences between adults and children were observed in patients diagnosed with CD and treated with infliximab. This research was funded by Instituto de Salud Carlos III, grant number PI19/00792 (L.A.L.-F.) and Juan Rodes program JR19/00005 (E.L.-M.), by Instituto de Investigación Sanitaria Gregorio Marañón, grant number 2021-II-postdoc-01 (S.S.-M.), and by Consejería de Educación, Universidades, Ciencia y Portavocía Comunidad de Madrid, grant number PEJ-2021-AI/BMD-21866 (P.Z.-C.). The study was co-funded by the European Union.

Introduction: vitamin D maintains the concentration of calcium and phosphorus within the physiological range, allowing normal metabolism and bone mineralization. Recently, vitamin D deficiency has been related not only with rickets but also with an increased risk of other pathologies. The aim of this descriptive, observational, cross-sectional study was to assess vitamin D concentration levels in a healthy pediatric population, as well as the current situation of prophylaxis. Vitamin D determination was measured by serum 25-hydroxyvitamin D (25(OH)D) concentration. Methods: a total of 258 healthy patients between 3 months and 15 years of age were enrolled (6.77 ± 3.95 years; 73.6 % were male). Results: the mean value of 25-hydroxyvitamin D was 26.60 ng/mL ± 8.02 ng/mL, and up to 20.9 % of the population showed insufficient levels. Statistically significant differences in vitamin D levels were observed between ages (p = 0.002), ethnicity groups (p = 0.038), and skin types (p = 0.000). In addition, a higher prevalence of vitamin D insufficiency in children who had never previously received vitamin D supplementation (41.6 %) was observed compared to those that had taken supplementation in the first year of life (16.7 %). Conclusion: our study shows a high prevalence of vitamin D deficiency among healthy children, and the benefit of prophylaxis with vitamin D supplementation.Introducción: la vitamina D mantiene la concentración de calcio y fósforo dentro del rango fisiológico, permitiendo un metabolismo normal y la correcta mineralización de los huesos. Recientemente, la deficiencia de vitamina D se ha relacionado no solo con el raquitismo sino también con el aumento del riesgo de otras patologías. El objetivo de este estudio descriptivo, observacional y transversal fue conocer los niveles de concentración de vitamina D en una población pediátrica sana y la situación actual en cuanto a la profilaxis. La determinación de la vitamina D se midió mediante la concentración sérica de 25-hidroxivitamina D (25(OH)D). Material y métodos: se inscribieron 258 pacientes sanos de entre 3 meses y 15 años (6,77 ± 3,95 años; 73,6 % de hombres). Resultados: el valor medio de 25(OH)D fue de 26,60 ng/ml ± 8,02 ng/ml; el 20,9 % de la población mostró un nivel insuficiente. Se observaron diferencias estadísticamente significativas entre los niveles de vitamina D de las distintas edades (p = 0,002), grupos étnicos (p = 0,038) y fototipos (p = 0,000). Además, se observó una mayor prevalencia de la insuficiencia de vitamina D en los niños que nunca antes habían recibido suplementos de vitamina D (41,6 %) en comparación con los que habían tomado suplementos en el primer año de vida (16,7 %). Conclusiones: el presente estudio muestra una alta prevalencia del déficit de vitamina D en los niños sanos y el beneficio de una correcta profilaxis en edades tempranas con suplementos de vitamina D.

Introduction: The low FODMAP diet (fermentable oligosaccharides, monosaccharides, disaccharides, and polyols) has shown to be effective in adult patients with irritable bowel syndrome, but there are few studies on paediatric patients. The aim of this study is to assess the implementation and the outcomes of a low FODMAP diet in the treatment of functional abdominal pain in children from a Mediterranean area. Material and methods: A table was designed in which foods were classified according to their FODMAP content, as well as a ‘Symptoms and Stools Diary’. A prospective study was conducted on children with functional abdominal pain in our Paediatric Gastroenterology Unit. Results: A total of 22 patients were enrolled in the trial, and 20 completed it. Data were collected of the abdominal pain features over a period of 3 days, and then patients followed a two-week low FODMAP diet. Afterwards, information about abdominal pain features was collected again. After the diet, they showed fewer daily abdominal pain episodes compared to baseline (1.16 [IQR: 0.41–3.33] versus 2 [IQR: 1.33–6.33] daily episodes, P = .024), less pain severity compared to baseline (1.41 cm [IQR: 0.32–5.23] versus 4.63 cm [IQR: 2.51–6.39] measured by 10-cm Visual Analogue Scale, P = .035), less interference with daily activities, and less gastrointestinal symptoms. Only 15% of patients found it difficult to follow the diet. Conclusions: The implementation of a low FODMAP diet for 2 weeks in a Mediterranean paediatric population diagnosed with functional abdominal pain is possible with adapted diets. It was highly valued by patients, and they showed an improvement in abdominal pain symptoms assessed by objective methods. Resumen: Introducción: La dieta baja en FODMAP (acrónimo en inglés de polioles, monosacáridos, disacáridos y oligosacáridos fermentables) ha demostrado eficacia como tratamiento del síndrome de intestino irritable en adultos, siendo escasos los estudios en niños. Nuestro objetivo es analizar la implantación de esta dieta como tratamiento del dolor abdominal crónico funcional en población pediátrica de un área mediterránea, y su respuesta a esta. Material y métodos: Se elaboró una tabla clasificando los alimentos según su contenido en FODMAP, y se diseñó un «Diario de síntomas y deposiciones» para recoger los datos. Posteriormente se realizó un estudio prospectivo con niños con dolor abdominal crónico funcional de nuestra Unidad de Gastroenterología Pediátrica. Resultados: Se reclutaron 22 pacientes, 20 de los cuales completaron el estudio. Se recogieron durante 3 días datos sobre el dolor abdominal; posteriormente recibieron dieta baja en FODMAP 2 semanas, y al finalizarla recogieron de nuevo dichos datos. Tras la dieta se objetivó disminución en frecuencia diaria de episodios de dolor abdominal (1,16 [RIQ: 0,41-3,33] frente a 2 [RIQ: 1,33-6,33] inicialmente, p = 0,024), menor intensidad del dolor (1,41 cm [RIQ: 0,32-5,23] frente a 4,63 cm [RIQ: 2,51-6,39] inicial, p = 0,035, medido mediante Escala Visual Analógica de 10 cm), menor interferencia con la actividad diaria y menos síntomas acompañantes. Solo un 15% de los pacientes consideraron la dieta difícil. Conclusiones: La implantación de una dieta baja en FODMAP durante 2 semanas en una población pediátrica mediterránea con dolor abdominal crónico funcional es posible utilizando dietas adaptadas, es bien valorada por los pacientes, y su evaluación mediante herramientas objetivas muestra mejoría en los síntomas de dolor abdominal.

Resumen: Introducción: La dieta baja en FODMAP (acrónimo en inglés de polioles, monosacáridos, disacáridos y oligosacáridos fermentables) ha demostrado eficacia como tratamiento del síndrome de intestino irritable en adultos, siendo escasos los estudios en niños. Nuestro objetivo es analizar la implantación de esta dieta como tratamiento del dolor abdominal crónico funcional en población pediátrica de un área mediterránea, y su respuesta a esta. Material y métodos: Se elaboró una tabla clasificando los alimentos según su contenido en FODMAP, y se diseñó un «Diario de síntomas y deposiciones» para recoger los datos. Posteriormente se realizó un estudio prospectivo con niños con dolor abdominal crónico funcional de nuestra Unidad de Gastroenterología Pediátrica. Resultados: Se reclutaron 22 pacientes, 20 de los cuales completaron el estudio. Se recogieron durante 3 días datos sobre el dolor abdominal; posteriormente recibieron dieta baja en FODMAP 2 semanas, y al finalizarla recogieron de nuevo dichos datos. Tras la dieta se objetivó disminución en frecuencia diaria de episodios de dolor abdominal (1,16 [RIQ: 0,41-3,33] frente a 2 [RIQ: 1,33-6,33] inicialmente, p = 0,024), menor intensidad del dolor (1,41 cm [RIQ: 0,32-5,23] frente a 4,63 cm [RIQ: 2,51-6,39] inicial, p = 0,035, medido mediante Escala Visual Analógica de 10 cm), menor interferencia con la actividad diaria y menos síntomas acompañantes. Solo un 15% de los pacientes consideraron la dieta difícil. Conclusiones: La implantación de una dieta baja en FODMAP durante 2 semanas en una población pediátrica mediterránea con dolor abdominal crónico funcional es posible utilizando dietas adaptadas, es bien valorada por los pacientes, y su evaluación mediante herramientas objetivas muestra mejoría en los síntomas de dolor abdominal. Abstract: Introduction: The low FODMAP diet (fermentable oligosaccharides, monosaccharides, disaccharides, and polyols) has shown to be effective in adult patients with irritable bowel syndrome, but there are few studies on paediatric patients. The aim of this study is to assess the implementation and the outcomes of a low FODMAP diet in the treatment of functional abdominal pain in children from a Mediterranean area. Material and methods: A table was designed in which foods were classified according to their FODMAP content, as well as a ‘Symptoms and Stools Diary’. A prospective study was conducted on children with functional abdominal pain in our Paediatric Gastroenterology Unit. Results: A total of 22 patients were enrolled in the trial, and 20 completed it. Data were collected of the abdominal pain features over a period of 3 days, and then patients followed a two-week low FODMAP diet. Afterwards, information about abdominal pain features was collected again. After the diet, they showed fewer daily abdominal pain episodes compared to baseline (1.16 [IQR: 0.41-3.33] versus 2 [IQR: 1.33-6.33] daily episodes, P = .024), less pain severity compared to baseline (1.41 cm [IQR: 0.32-5.23] versus 4.63 cm [IQR: 2.51-6.39] measured by 10-cm Visual Analogue Scale, P = .035), less interference with daily activities, and less gastrointestinal symptoms. Only 15% of patients found it difficult to follow the diet. Conclusions: The implementation of a low FODMAP diet for 2 weeks in a Mediterranean paediatric population diagnosed with functional abdominal pain is possible with adapted diets. It was highly valued by patients, and they showed an improvement in abdominal pain symptoms assessed by objective methods.

Mucopolysaccharidosis type IIIB is a lysosomal storage disease caused by a deficiency of the N-acetyl-alpha-d-glucosaminidase enzyme involved in the catabolism of heparan sulfate, causing its accumulation in various tissues. We present an 8-year-old patient with mucopolysaccharidosis type IIIB, with a history of chronic diarrhea and endoscopic and histological findings compatible with intestinal lymphangiectasia. After a dietary treatment with a low-fat diet supplemented with mediumchain triglyceride, our patient presents clinical improvement until today. The pathogenesis of chronic diarrhea in patients with mucopolysaccharidosis type IIIB is still unknown. The Linfangiectasia intestinal en un paciente afectado de sindrome de Sanfilippo B Intestinal lymphangiectasia in a patient with Sanfilippo B syndrome presence of intestinal lymphangiectasia in these patients should be investigated, and appropriate dietary treatment should be initiated, if confirmed, to improve their quality of life.

Resumen Introduccion Las alteraciones del perfil hepatico constituyen un hecho inespecifico propio de numerosas condiciones clinicas. Sin embargo, puede implicar la primera manifestacion de una patologia potencialmente grave en un paciente asintomatico. Material y metodos Estudio observacional retrospectivo que incluye todas las analiticas sanguineas con elevacion de alanino aminotransferasa (ALT) en pacientes pediatricos solicitadas en un sector sanitario en un periodo de 6 meses. Resultados Se registraron 572 analiticas correspondientes a 403 pacientes. Se excluyeron 98 pacientes con hipertransaminasemia ya conocida o comorbilidad. De los 305 restantes, el 22,6% se diagnosticaron de patologia asociada a hipertransaminasemia, y de estos, se comprobo normalizacion en el 33,3%. De los 236 pacientes con hipertransaminasemia sin justificar se realizo un seguimiento en el 29%, encontrando patologia hepatica en 9 pacientes (13% del grupo). En el resto de la muestra no se comprobo analiticamente la evolucion de las transaminasas ni la presencia de posible patologia hepatica. Los pacientes con cifras mas elevadas se controlan mejor y antes que los que presentan cifras mas bajas. Conclusiones En nuestra area, la mayoria de los ninos sin enfermedad hepatica aparente con hallazgo de ALT elevada no son adecuadamente controlados. Esto hace que se pierda una oportunidad unica de diagnosticar y tratar precozmente una enfermedad hepatica potencial en un gran numero de ninos. Todo nino con hipertransaminasemia inexplicada debe ser estudiado.

Multicenter study conducted in 15 hospitals including 101 COVID-19 pediatric inpatients aiming to describe associated gastrointestinal (GI) manifestations. GI symptoms were present in 57% and were the first manifestation in 14%. Adjusted by confounding factors, those with GI symptoms had higher risk of pediatric intensive care unit admission. GI symptoms are predictive of severity in COVID-19 children admitted to hospitals.

Bone health problems may be related to the nutritional deficit in pediatric patients with cerebral palsy. It is common to find asymptomatic vertebral fractures when they have low bone mineral density. Fat mass deficit could be related to a lower bone mineral density and a higher risk of vertebral fractures. To study the bone health of patients with CP and its relationship with neurological and nutritional status. Cerebral palsy (CP) is the most common cause of motor disability in pediatric age. Cross-sectional, observational, descriptive, and analytical study in which patients with CP between 4 and 5 years with Gross Motor Function Classification System (GMFCS) grades III–IV–V were included. It was carried out: survey, anthropometric study, bioimpedanciometry (BIA), and bone densitometry. Patients with low bone mineral density (BMD Z score less than − 2.0) underwent lumbar radiography looking for vertebral fractures to be diagnosed with osteoporosis. Total sample: 51 patients (51.0% women). Mean age: 11.0 ± 0.5 years. BMD Z score average: − 2.1 (95% CI − 2.5, − 1.7). BMD Z score according to GMFCS: grade III − 1.6 (− 2.2; − 1.), grade IV − 1.6 (− 2.4; − 0.9), grade V − 3.1 (− 3.9, − 2.2) (p = 0.013). Bone health classification according to the International Society for Clinical Densitometry was: 47.1% normal, 52.9% low BMD. Relationship between low BMD and low fat mass (p = 0.030) and low cell mass (p = 0.040) was found. Prevalence of vertebral fractures in lumbar radiography: 25.9%, increasing as the degree of neurological involvement. Vertebral fractures were found in 5/13 GMFCS grade V, 2/6 GMFCS grade IV, and 0/10 GMFCS grade III. Bone health in the pediatric population with CP is compromised in relation to the degree of neurological involvement and nutritional status. Those patients with moderate-severe cerebral palsy and low BMD seem to present an increased risk of fracture.

Eosinophilic oesophagitis is an emerging and chronic disorder mediated by the immune system, and is characterised by symptoms of oesophageal dysfunction and inflammation with isolated eosinophil infiltration in the oesophagus. It is more common in males and in atopic subjects, and the symptoms vary with age. In younger children, there is vomiting, abdominal pain and dietary problems, with dysphagia and food impaction in older children and adolescents. The diagnosis is based on the presence of symptoms and oesophageal inflammation with ≥15 eosinophils/high power field, and after ruling out other causes of oesophageal eosinophilia. Without treatment, the disease usually persists and can progress to fibrostenotic forms more common in adults. The treatment options included proton pump inhibitors, empirical elimination diets, and swallowed topical corticosteroids. Maintenance therapy is advisable after the induction treatment. Diet is the only treatment that is directed at the cause of the disease, on identifying the triggering food or foods. The response to the treatments requires a histological assessment due to the poor agreement between the symptoms and the oesophageal inflammation.The practical management of Eosinophilic oesophagitis presents with challenges, due to, among other causes, the current lack of availability of specific drugs, and its approach with, occasionally complex, diet treatments. The present document, prepared by the Working Group on Eosinophilic Gastrointestinal Disorders of the Spanish Society of Paediatric Gastroenterology, Hepatology and Nutrition, has as its objective to help in the diagnostic and therapeutic approach to paediatric eosinophilic oesophagitis, based on the recent evidence-based consensus guidelines. Resumen: La esofagitis eosinofílica es una enfermedad emergente, crónica, mediada por el sistema inmune y caracterizada por síntomas de disfunción esofágica e inflamación con infiltración eosinofílica aislada en el esófago. Es más frecuente en varones y en sujetos atópicos y los síntomas varían con la edad: en niños pequeños se manifiesta con vómitos, dolor abdominal y problemas con la alimentación y en niños mayores y adolescentes con disfagia e impactación alimentaria. El diagnóstico se basa en la presencia de síntomas e inflamación esofágica con ≥ 15 eosinófilos/campo de gran aumento, tras descartar otras causas de eosinofilia esofágica. Sin tratamiento, la enfermedad suele persistir y puede evolucionar a formas fibroestenóticas más frecuentes en el adulto. Las opciones terapéuticas incluyen inhibidores de la bomba de protones, dieta de eliminación empírica y corticoides deglutidos. Tras el tratamiento de inducción es aconsejable la terapia de mantenimiento. La dieta es el único tratamiento que se dirige a la causa de la enfermedad, al identificar los alimentos desencadenantes. La respuesta a los tratamientos requiere la evaluación histológica, por la escasa concordancia entre los síntomas y la inflamación esofágica.El manejo práctico de la esofagitis eosinofílica presenta desafíos debido, entre otras causas, a la falta de disponibilidad actual de fármacos específicos y a su abordaje con tratamientos dietéticos, en ocasiones, complejos. El presente documento, elaborado por el Grupo de Trabajo de Trastornos Gastrointestinales Eosinofílicos de la Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátricas, tiene como objetivo facilitar el abordaje diagnóstico y terapéutico de la esofagitis eosinofílica pediátrica, con base en las recientes guías de consenso basadas en la evidencia.

to analyze the presence of common personality traits and anxiety states in children and adolescents with inflammatory bowel disease (IBD).Longitudinal, prospecti ve, and analytical study by applying the questionnaires Children's Personality Questionnaire, High School Personality Questionnaire, State-Trait Anxiety Inventory for Children, and State-Trait Anxie ty Inventory for patients with IBD aged between 9 and 18 years seen at reference IBD units in Ara gon, Spain. The participants excluded were those with active disease, defined as a score10 on the Pediatric Crohn's Disease Activity Index (PCDAI Score) or10 on the Pediatric Ulcerative Colitis Activity Index (PUCAI Score).Twenty-six patients participated (73% male). 61.5% pre sented Crohn's disease (CD) and 38.5% ulcerative colitis (UC). No patient presented active disease. The personality profile as a group was characterized by being open, emotionally stable, calm, sober, sensible, enterprising, impressionable, dependent, serene, perfectionist, and relaxed. 50% of the CD patients were enterprising versus no UC patients (p0.05). There were no statistically significant di fferences when comparing the remaining personality factors based on IBD type, age, or sex. Patients with CD tended to be calmer (p = 0.0511) and patients with UC more introverted (p = 0.0549). The sample presented a state anxiety level (A/E) -1.1 ± 0.8 SD compared with the population average. The level of anxiety as a feature (A/R) was -0.6 ± 1 SD. Males had significantly lower levels than females in the case of A/E (p0.05).The presence of common personality traits in the pediatric population with IBD stands out but there was no greater anxiety than in the reference population.

Mucopolysaccharidosis type IIIB is a lysosomal storage disease caused by a deficiency of the N-acetyl-alpha-d-glucosaminidase enzyme involved in the catabolism of heparan sulfate, causing its accumulation in various tissues. We present an 8-year-old patient with mucopolysaccharidosis type IIIB, with a history of chronic diarrhea and endoscopic and histological findings compatible with intestinal lymphangiectasia. After a dietary treatment with a low-fat diet supplemented with mediumchain triglyceride, our patient presents clinical improvement until today. The pathogenesis of chronic diarrhea in patients with mucopolysaccharidosis type IIIB is still unknown. The Linfangiectasia intestinal en un paciente afectado de síndrome de Sanfilippo B Intestinal lymphangiectasia in a patient with Sanfilippo B syndrome presence of intestinal lymphangiectasia in these patients should be investigated, and appropriate dietary treatment should be initiated, if confirmed, to improve their quality of life.La mucopolisacaridosis tipo III B es una enfermedad de depósito lisosomal causada por la deficiencia de la enzima N-acetil-alfad- glucosaminidasa, implicada en el catabolismo del heparán sulfato, que produce su acúmulo en diversos tejidos. Se presenta a un paciente de 8 años, afectado de mucopolisacaridosis tipo III B, con historia de diarrea crónica y hallazgos endoscópicos e histológicos compatibles con linfangiectasia intestinal. Tras tratamiento dietético con restricción de ácidos grasos de cadena larga y rica en triglicéridos de cadena media, presentó mejoría clínica, mantenida hasta la actualidad. La patogenia de la diarrea crónica en pacientes con mucopolisacaridosis tipo III B es aún desconocida. Debe investigarse la presencia de linfangiectasia intestinal en estos pacientes e iniciar, en caso de confirmarse, un tratamiento dietético adecuado para mejorar así su calidad de vida.

Eosinophilic oesophagitis is an emerging and chronic disorder mediated by the immune system, and is characterised by symptoms of oesophageal dysfunction and inflammation with isolated eosinophil infiltration in the oesophagus. It is more common in males and in atopic subjects, and the symptoms vary with age. In younger children, there is vomiting, abdominal pain and dietary problems, with dysphagia and food impaction in older children and adolescents. The diagnosis is based on the presence of symptoms and oesophageal inflammation with ≥ 15 eosinophils / high power field, and after ruling out other causes of oesophageal eosinophilia. Without treatment, the disease usually persists and can progress to fibrostenotic forms more common in adults. The treatment options included proton pump inhibitors, empirical elimination diets, and swallowed topical corticosteroids. Maintenance therapy is advisable after the induction treatment. Diet is the only treatment that is directed at the cause of the disease, on identifying the triggering food or foods. The response to the treatments requires a histological assessment due to the poor agreement between the symptoms and the oesophageal inflammation. The practical management of Eosinophilic oesophagitis presents with challenges, due to, among other causes, the current lack of availability of specific drugs, and to its approach with, occasionally complex, diet treatments. The present document, prepared by the Working Group on Eosinophilic Gastrointestinal Disorders of the Spanish Society of Paediatric Gastroenterology, Hepatology and Nutrition, has as its objective to help in the diagnostic and therapeutic approach to paediatric eosinophilic oesophagitis, based on the recent evidence-based consensus guidelines.

Introduction: Neonatal cystic fibrosis (CF) screening has enabled the disease to be diagnosed early, and is a determining factor in the increase in survival of these patients. Its main disadvantage is its low specificity and elevated number of false positives. The aim of this study is to analyse the differences in immunoreactive trypsin (IRT) between the different groups of newborns (NB) with a positive neonatal screen depending on whether they were healthy, healthy carriers, affected by CF, or CFSPID (Cystic Fibrosis Screen Positive, Inconclusive Diagnosis). Material: Retrospective analytical study of the concentrations of IRT in NB with a positive neonatal screen for CF born in a tertiary hospital during an 8-year period. Results: A total of 790 NB with a positive neonatal screen for CF were analysed. Of these 86.3% were term, 53% girls, and 11.8% were admitted. The mean IRT value was 79.16 ng/mL (range 60–367). Significantly higher concentrations of IRT were found in those affected by CF compared to the other groups (P

Background and Aims: Diagnostic delay (DD) is especially relevant in children with inflammatory bowel disease, leading to potential complications. We examined the intervals and factors for DD in the pediatric population of Spain. Methods: We conducted a multicentric prospective study, including 149 pediatric inflammatory bowel disease patients, obtaining clinical, anthropometric, and biochemical data. Time to diagnosis (TD) was divided into several intervals to identify those where the DD was longer and find the variables that prolonged those intervals. Missed opportunities for diagnosis (MODs) were also identified. Results: Overall TD was 4.4 months (interquartile range [IQR] 2.6-10.4), being significantly higher in Crohn's disease (CD) than in ulcerative colitis (UC) (6.3 [IQR 3.3-12.3] vs. 3 [IQR 1.6-5.6] months, p = 0.0001). Time from the visit to the first physician until referral to a pediatric gastroenterologist was the main contributor to TD (2.4 months [IQR 1.03-7.17] in CD vs. 0.83 months [IQR 0.30-2.50] in UC, p = 0.0001). One hundred and ten patients (78.3%) visited more than one physician (29.9% to 4 or more), and 16.3% visited the same physician more than six times before being assessed by the pediatric gastroenterologist. The number of MODs was significantly higher in CD than that in UC patients: 4 MODs (IQR 2-7) vs. 2 MODs ([IQR 1-5], p = 0.003). Referral by pediatricians from hospital care allowed earlier IBD diagnosis (odds ratio 3.2 [95% confidence interval 1.1-8.9], p = 0.025). Conclusions: TD and DD were significantly higher in CD than those in UC. IBD patients (especially those with CD) undergo a large number of medical visits until the final diagnosis.

Resumen: Introducción: Los pacientes con parálisis cerebral moderada-grave precisan de sus cuidadores para realizar las actividades básicas de la vida diaria (ABVD). Objetivos: Describir la presencia de comorbilidades, la percepción de dificultad de los cuidadores para las ABVD y analizar la influencia del grado de afectación motora, el estado nutricional y otras alteraciones neurológicas. Métodos: Estudio transversal y observacional. Se estudió a pacientes con parálisis cerebral grados III-IV-V según el Sistema de Clasificación de la Función Motora Gruesa (GMFCS). Se registraron las comorbilidades y se estudió la composición corporal mediante antropometría y bioimpedanciometría. Además, se hizo una encuesta de carga del cuidador sobre ABVD (10 ítems que exploran las diferentes actuaciones: higiene, vestido, transferencias, sueño y alimentación). Se estudió qué variables influyen más en la percepción de dificultad para las ABVD. Resultados: Muestra de 69 pacientes (50,7% mujeres, edad media de 10,46 ± 0,4 años), con los siguientes grados de GMFCS: grado III 36,2% (N = 25), grado IV 29,0% (N = 20) y grado V 34,8% (N = 24). Se halló relación entre la puntuación de carga del cuidador y el grado GMFCS (p = 0,003) y la discapacidad intelectual (p

Background and objective The objective of the study was to determine the ability of faecal calprotectin to differentiate functional and organic intestinal diseases in paediatric patients, and to evaluate the correlation between inflammatory parameters and levels of faecal calprotectin. Patients and methods This retrospective study involved clinical data from 129 paediatric patients with symptoms of intestinal pathology. Faecal calprotectin was determined by quantitative immunoassay. Patients were classified into three groups: functional (32.8% of patients); organic non-inflammatory bowel disease (IBD, 53.9%); and organic IBD (13.3%). Results Calprotectin levels were significantly different among the three groups; between patients with IBD and the others, and also between patients with non-organic IBD and functional. Positive associations were found between high levels of calprotectin and higher erythrocyte sedimentation rate (rho = 0.497), C-reactive protein (rho = 0.460), and platelet count (rho = 0.232). Nevertheless, an inverse correlation was found between high levels of calprotectin and transferrin saturation (rho = ∧0.310), albumin (rho = ∧0.412), and haemoglobin levels (rho = ∧0.309). Discussion Determination of faecal calprotectin is a complementary tool in clinical practice for discriminating between functional and organic IBD, avoiding, according to the levels of calprotectin, unnecessary invasive procedures in paediatric patients.

Introducción: La disfagia es muy frecuente en niños con discapacidad neurológica. Estos pacientes suelen presentar problemas respiratorios y nutricionales. El estudio de la deglución por videofluoroscopia (VFC) suele ser el más recomendado, ya que revela la situación real durante la deglución. Objetivos: Estudiar los resultados obtenidos en la evaluación diagnóstica tras un año desde la implantación de la VFC en nuestro centro, y analizar la mejoría clínica tras la confirmación por VFC y la prescripción de un tratamiento individualizado en los niños con disfagia orofaríngea. Material y métodos: Se recogen las VFC realizadas en el último año. Se analizan las siguientes variables: edad, enfermedad, grado de afectación neurológica, tipo de disfagia (oral, faríngea y/o esofágica), gravedad, aspiraciones y/o penetraciones, tratamiento prescrito y mejora nutricional y/o respiratoria tras el diagnóstico. Se realiza análisis estadístico mediante SPSS v21. Resultados Se realizaron 61 VFC. Se detectó disfagia en más del 70%, siendo moderadas-graves en el 58%. Se visualizaron aspiraciones y/o penetraciones en el 59%, siendo silentes el 50%. Se prescribió dieta adaptada al 56% y gastrostomía en 13 pacientes (21%). Se encontró asociación estadística entre enfermedad neurológica y la gravedad de la disfagia, existiendo relación según el grado de afectación motora y la presencia de aspiraciones. Tras la evaluación por VFC y la adecuación del tratamiento se encontró una mejoría nutricional en Z-score de peso (+ 0, 3 DE) e IMC (+ 0, 4 DE) y una mejoría respiratoria en un 71% de los pacientes disfágicos controlados en Neumología. Conclusiones: Tras la implantación de la VFC se ha diagnosticado a un alto porcentaje de pacientes, que se han beneficiado de un diagnóstico y un tratamiento correctos. La VFC es una prueba diagnóstica fundamental que debería ser incluida en los centros pediátricos, como método diagnóstico de los niños con sospecha disfagia. Introduction: Dysphagia is very common in children with neurological disabilities. These patients usually suffer from respiratory and nutritional problems. The videofluoroscopic swallowing study (VFSS) is the most recommended test to evaluate dysphagia, as it shows the real situation during swallowing. Objectives: To analyse the results obtained in our centre after one year of the implementation of VFSS, the clinical improvement after confirmation, and the prescription of an individualised treatment for the patients affected. Material and methods: VFSS performed in the previous were collected. The following variables were analysed: age, pathology, degree of neurological damage, oral and pharyngeal and/or oesophageal dysphagia and its severity, aspirations, prescribed treatment, and nutritional and respiratory improvement after diagnosis. A statistical analysis was performed using SPSS v21. Results: A total of 61 VFSS were performed. Dysphagia was detected in more than 70%, being moderate-severe in 58%. Aspirations and/or penetrations were recorded in 59%, of which 50% were silent. Adapted diet was prescribed to 56%, and gastrostomy was performed on 13 (21%) patients. A statistical association was found between neurological disease and severity of dysphagia. The degree of motor impairment is related to the presence of aspirations. After VFSS evaluation and treatment adjustment, nutritional improvement was found in Z-score of weight (+ 0.3 SD) and BMI (+ 0.4 SD). There was respiratory improvement in 71% of patients with dysphagia being controlled in the Chest Diseases Department. Conclusions: After implementation of VFSS, a high percentage of patients were diagnosed and benefited from a correct diagnosis and treatment. VFSS is a fundamental diagnostic test that should be included in paediatric centres as a diagnostic method for children with suspected dysphagia.

Objetivo: Analizar la presencia de rasgos de personalidad comunes y estado de ansiedad en niños y adolescentes con enfermedad inflamatoria intestinal (EII).Pacientes y Método: Estudio longitudinal, prospectivo y analítico mediante la aplicación de los cuestionarios Children’s Personality Questionnaire, High School Personality Questionnaire, State Trait Anxiety Inventory for Children y State Trait Anxiety Inventory a pacientes con EII con edad comprendida entre 9 y 18 años controlados en unidades de referencia en EII de Aragón, España. Se excluyeron aquellos que presentaban enfermedad activa, definido como una puntación ≥ 10 en el Pediatric Crohn Disease Activity Index (PCDAI Score) o ≥ 10 en el Pediatric Ulcerative Colitis Activity Index (PUCAI Score).Resultados: Participaron 26 pacientes (73% varones). El 61,5% presentaba enfermedad de Crohn (EC) y el 38,5% colitis ulcerosa (CU). Ninguno presentaba enfermedad activa. El perfil de personalidad como grupo se caracterizó por ser abierto, emocionalmente estable, calmoso, sobrio, sensato, emprendedor, impresionable, dependiente, sereno, perfeccionista y relajado. El 50% de los pacientes con EC eran emprendedores frente a ningún paciente con CU (p < 0,05). No hubo diferencias estadísticamente significativas al comparar el resto factores de personalidad en función del tipo de EII, edad ni sexo. Los pacientes con EC tienden a ser más calmados (p = 0,0511) y los pacientes con CU más introvertidos (p = 0,0549). La muestra presentaba un nivel de ansiedad estado (A/E) -1,1 ± 0,8 DS respecto a la media poblacional. El nivel de ansiedad como rasgo (A/R) era -0,6 ± 1 DS. Los varones tenían niveles significativamente menores que las mujeres en el caso de la A/E (p < 0,05).Conclusiones: Destaca la presencia de rasgos de personalidad comunes en la población pediátrica con EII pero no se ha constatado mayor ansiedad que en la población de referencia.

Inflammatory bowel disease in children has increased worldwide during the last decades. Clinical presentations are diverse and extraintestinal manifestations are the presenting sign in 6-35 % of patients, the most common of them being peripheral arthritis. An atypical clinical presentation results in diagnosis delay and, added to the greater seriousness of inflammatory bowel disease phenotypes in children, it entails more intestinal complications and sequelae. We describe two cases of inflammatory bowel disease with an initial symptom of lameness due to peripheral arthritis and enthesitis, respectively. © 2019 Sociedad Argentina de Pediatria. All rights reserved. La incidencia de enfermedad in amatoria intestinal en la edad pedia´trica se ha incrementado mundialmente en las u´ltimas de´cadas. La forma de presentacio´n puede ser diversa y, hasta en un 6-35 %, las manifestaciones extraintestinales pueden ser el debut; la artritis perife´rica es la ma´s frecuente de estas. Una presentacio´n ati´pica implica un retraso diagno´stico y, asociado a que el fenotipo de enfermedad in amatoria intestinal es ma´s grave en los nin~os, conlleva un incremento de las complicaciones intestinales y secuelas asociadas. Se presentan dos casos cli´nicos de enfermedad de Crohn cuya cli´nica inicial fue la claudicacio´n de la marcha por una artritis perife´rica y una entesitis, respectivamente.

Resumen: La esofagitis eosinofílica es una enfermedad emergente, crónica, mediada por el sistema inmune y caracterizada por síntomas de disfunción esofágica e inflamación con infiltración eosinofílica aislada en el esófago. Es más frecuente en varones y en sujetos atópicos y los síntomas varían con la edad: en niños pequeños se manifiesta con vómitos, dolor abdominal y problemas con la alimentación y en niños mayores y adolescentes con disfagia e impactación alimentaria. El diagnóstico se basa en la presencia de síntomas e inflamación esofágica con ≥ 15 eosinófilos/campo de gran aumento, tras descartar otras causas de eosinofilia esofágica. Sin tratamiento, la enfermedad suele persistir y puede evolucionar a formas fibroestenóticas más frecuentes en el adulto. Las opciones terapéuticas incluyen inhibidores de la bomba de protones, dieta de eliminación empírica y corticoides deglutidos. Tras el tratamiento de inducción es aconsejable la terapia de mantenimiento. La dieta es el único tratamiento que se dirige a la causa de la enfermedad, al identificar los alimentos desencadenantes. La respuesta a los tratamientos requiere la evaluación histológica, por la escasa concordancia entre los síntomas y la inflamación esofágica.El manejo práctico de la esofagitis eosinofílica presenta desafíos debido, entre otras causas, a la falta de disponibilidad actual de fármacos específicos y a su abordaje con tratamientos dietéticos, en ocasiones, complejos. El presente documento, elaborado por el Grupo de Trabajo de Trastornos Gastrointestinales Eosinofílicos de la Sociedad Española de Gastroenterología, Hepatología y Nutrición Pediátricas, tiene como objetivo facilitar el abordaje diagnóstico y terapéutico de la esofagitis eosinofílica pediátrica, con base en las recientes guías de consenso basadas en la evidencia. Abstract: Eosinophilic oesophagitis is an emerging and chronic disorder mediated by the immune system, and is characterised by symptoms of oesophageal dysfunction and inflammation with isolated eosinophil infiltration in the oesophagus. It is more common in males and in atopic subjects, and the symptoms vary with age. In younger children, there is vomiting, abdominal pain and dietary problems, with dysphagia and food impaction in older children and adolescents. The diagnosis is based on the presence of symptoms and oesophageal inflammation with ≥ 15 eosinophils / high power field, and after ruling out other causes of oesophageal eosinophilia. Without treatment, the disease usually persists and can progress to fibrostenotic forms more common in adults. The treatment options included proton pump inhibitors, empirical elimination diets, and swallowed topical corticosteroids. Maintenance therapy is advisable after the induction treatment. Diet is the only treatment that is directed at the cause of the disease, on identifying the triggering food or foods. The response to the treatments requires a histological assessment due to the poor agreement between the symptoms and the oesophageal inflammation.The practical management of Eosinophilic oesophagitis presents with challenges, due to, among other causes, the current lack of availability of specific drugs, and to its approach with, occasionally complex, diet treatments. The present document, prepared by the Working Group on Eosinophilic Gastrointestinal Disorders of the Spanish Society of Paediatric Gastroenterology, Hepatology and Nutrition, has as its objective to help in the diagnostic and therapeutic approach to paediatric eosinophilic oesophagitis, based on the recent evidence-based consensus guidelines.

Inflammatory bowel disease in children has increased worldwide during the last decades. Clinical presentations are diverse and extraintestinal manifestations are the presenting sign in 6-35 % of patients, the most common of them being peripheral arthritis. An atypical clinical presentation results in diagnosis delay and, added to the greater seriousness of inflammatory bowel disease phenotypes in children, it entails more intestinal complications and sequelae. We describe two cases of inflammatory bowel disease with an initial symptom of lameness due to peripheral arthritis and enthesitis, respectively.La incidencia de enfermedad inflamatoria intestinal en la edad pediátrica se ha incrementado mundialmente en las últimas décadas. La forma de presentación puede ser diversa y, hasta en un 6-35 %, las manifestaciones extraintestinales pueden ser el debut; la artritis periférica es la más frecuente de estas. Una presentación atípica implica un retraso diagnóstico y, asociado a que el fenotipo de enfermedad inflamatoria intestinal es más grave en los niños, conlleva un incremento de las complicaciones intestinales y secuelas asociadas. Se presentan dos casos clínicos de enfermedad de Crohn cuya clínica inicial fue la claudicación de la marcha por una artritis periférica y una entesitis, respectivamente.

Introducción: la principal acción de la vitamina D es mantener la concentración de calcio y fósforo dentro del rango fisiológico permitiendo el metabolismo normal y la mineralización ósea. Últimamente, se han descrito receptores de vitamina D en muchos tejidos y se ha relacionado la deficiencia de la vitamina D no solo con raquitismo y osteomalacia, sino también con mayor riesgo de diabetes, obesidad, enfermedades cardiovasculares, oncológicas, infecciosas y autoinmunes. Objetivo: el objetivo del estudio fue conocer la concentración de vitamina D en una población pediátrica sana y comprobar sus factores influyentes, así como analizar la situación actual de profilaxis de vitamina D y valorar la eficacia de las recomendaciones actuales. Métodos: se seleccionaron 107 pacientes sanos, de edades comprendidas entre uno y 15 años, que precisaron una analítica sanguínea como preoperatorio de cirugía menor, cuya patología no influyera en los parámetros del estudio. Resultados: la muestra estaba constituida en un 78, 5% por varones y presentaba una media de edad de 7, 17 ± 3, 79 años. La concentración media de vitamina D fue de 26, 07 ± 7, 11 ng/ml y hasta un 72, 9% presentaba niveles insuficientes. Se dividió la muestra en dos grupos: pacientes con hipovitaminosis D y pacientes con niveles óptimos de vitamina D. Se observó en el grupo con hipovitaminosis un predominio de varones, mayor índice de masa corporal y la presencia de fototipos extremos así como provenientes de padres inmigrantes. También presentaban mayor riesgo de hipovitaminosis los que no habían realizado profilaxis durante el primer año de vida. Conclusiones: se pone de manifiesto el alto porcentaje de población infantil sana con déficit de vitamina D y que las recomendaciones actuales de profilaxis no son llevadas a cabo por la población como recomiendan las guías actuales Background: the main action of vitamin D is to maintain the concentration of calcium and phosphorus within the physiological range, allowing normal metabolism and bone mineralization. Vitamin D receptors have recently been described in many tissues, therefore vitamin D deficiency has been related not only to rickets, but also to increased risk of diabetes, obesity, cardiovascular, oncological, infectious and autoimmune diseases. Objective: the aim of the study was to know the vitamin D concentration in a healthy pediatric population and to verify its influential factors, as well as to analyze the current situation of vitamin D prophylaxis and to evaluate the effectiveness of current recommendations. Methods: one hundred and seven healthy patients aged between one and 15 years were selected, who required a blood test as a preoperative minor surgery and whose pathology did not influence the parameters of the study. Results: the sample analyzed had a total of 78.5% males and a mean age of 7.17 ± 3.79 years. Mean values of vitamin D were 26.07 ± 7.11 ng/ml; up to 72.9% had insufficient levels. The sample was divided into two groups: patients with hypovitaminosis D and patients with optimal vitamin D levels. A predominance of males with a higher body mass index, from immigrant parents, and the presence of extreme phototypes were observed in the hypovitaminosis group. There was also a higher risk of hypovitaminosis in those who had not performed prophylaxis during the first year of life. Conclusions: the high percentage of healthy children with vitamin D deficiency is evident, and current recommendations for prophylaxis are not carried out by the population as recommended by current guidelines.

Dubin-Johnson syndrome is a rare benign inherited disorder, caused by mutations in ABCC2 gen, and it is characterized by predominantly conjugated hyperbilirubinemia that can be increased by intercurrent infectious illnesses or surgical procedures. We report the case of a 10 year-old patient who showed, after a surgical procedure for peritonitis due to appendicitis, jaundice and predominantly conjugated hyperbilirubinemia, and he was diagnosed with Dubin-Johnson syndrome by genetic testing.

Introduction: Dysphagia is very common in children with neurological disabilities. These patients usually suffer from respiratory and nutritional problems. The videofluoroscopic swallowing study (VFSS) is the most recommended test to evaluate dysphagia, as it shows the real situation during swallowing. Objectives: To analyse the results obtained in our centre after one year of the implementation of VFSS, the clinical improvement after confirmation, and the prescription of an individualised treatment for the patients affected. Material and methods: VFSS performed in the previous were collected. The following variables were analysed: age, pathology, degree of neurological damage, oral and pharyngeal and/or oesophageal dysphagia and its severity, aspirations, prescribed treatment, and nutritional and respiratory improvement after diagnosis. A statistical analysis was performed using SPSS v21. Results: A total of 61 VFSS were performed. Dysphagia was detected in more than 70%, being moderate-severe in 58%. Aspirations and/or penetrations were recorded in 59%, of which 50% were silent. Adapted diet was prescribed to 56%, and gastrostomy was performed on 13 (21%) patients. A statistical association was found between neurological disease and severity of dysphagia. The degree of motor impairment is related to the presence of aspirations. After VFSS evaluation and treatment adjustment, nutritional improvement was found in Z-score of weight (+0.3SD) and BMI (+0.4SD). There was respiratory improvement in 71% of patients with dysphagia being controlled in the Chest Diseases Department. Conclusions: After implementation of VFSS, a high percentage of patients were diagnosed and benefited from a correct diagnosis and treatment. VFSS is a fundamental diagnostic test that should be included in paediatric centres as a diagnostic method for children with suspected dysphagia. Resumen: Introducción: La disfagia es muy frecuente en niños con discapacidad neurológica. Estos pacientes suelen presentar problemas respiratorios y nutricionales. El estudio de la deglución por videofluoroscopia (VFC) suele ser el más recomendado, ya que revela la situación real durante la deglución. Objetivos: Estudiar los resultados obtenidos en la evaluación diagnóstica tras un año desde la implantación de la VFC en nuestro centro, y analizar la mejoría clínica tras la confirmación por VFC y la prescripción de un tratamiento individualizado en los niños con disfagia orofaríngea. Material y métodos: Se recogen las VFC realizadas en el último año. Se analizan las siguientes variables: edad, enfermedad, grado de afectación neurológica, tipo de disfagia (oral, faríngea y/o esofágica), gravedad, aspiraciones y/o penetraciones, tratamiento prescrito y mejora nutricional y/o respiratoria tras el diagnóstico. Se realiza análisis estadístico mediante SPSS v21. Resultados: Se realizaron 61 VFC. Se detectó disfagia en más del 70%, siendo moderadas-graves en el 58%. Se visualizaron aspiraciones y/o penetraciones en el 59%, siendo silentes el 50%. Se prescribió dieta adaptada al 56% y gastrostomía en 13 pacientes (21%). Se encontró asociación estadística entre enfermedad neurológica y la gravedad de la disfagia, existiendo relación según el grado de afectación motora y la presencia de aspiraciones. Tras la evaluación por VFC y la adecuación del tratamiento se encontró una mejoría nutricional en Z-score de peso (+0,3 DE) e IMC (+0,4 DE) y una mejoría respiratoria en un 71% de los pacientes disfágicos controlados en Neumología. Conclusiones: Tras la implantación de la VFC se ha diagnosticado a un alto porcentaje de pacientes, que se han beneficiado de un diagnóstico y un tratamiento correctos. La VFC es una prueba diagnóstica fundamental que debería ser incluida en los centros pediátricos, como método diagnóstico de los niños con sospecha disfagia.

evaluate vitamin D status and its association with chronic lung colonisation in Cystic Fibrosis patients.descriptive cross-sectional multicenter study. From November 2012 to April 2014, at 12 national hospitals, 377 patients with Cystic Fibrosis were included. Vitamin D levels30 ng/ml were classified as insufficient. Chronic colonisation was considered if they had at least two positive cultures in the past year.the median age was 8.9 years (2 months to 20 years). 65% had insufficient levels of vitamin D. There was an inverse correlation between age and vitamin D levels (r = -0.20 p0.001). Those diagnosed by screening, were younger and had higher levels of vitamin D. There was an inverse correlation between the number of colonisations and vitamin D levels (r = -0.16 p = 0.0015). Adjusting for age, pancreatic status and diagnosis by screening, colonization by S. aureus in 6 years, increased the risk of insufficient levels of vitamin D: OR 3.17 (95% CI 1.32 to 7.61) (p = 0.010) and OR 3.77 (95% CI 1.37 to 10 , 37) (p = 0.010), respectively.despite adequate supplementation, more than half of our patients did not achieve optimal levels of vitamin D. Regardless of age, diagnosis by screening or pancreatic status, chronic colonization by Pseudomonas sp. in children and adolescents and S. Aureus in infants and preschoolars increases the risk of developing vitamin D deficiency in these patients.Introducción y objetivos: conocer la situación en la que se encuentran los pacientes con fibrosis quística en relación con sus niveles de vitamina D y su asociación con las colonizaciones pulmonares crónicas. Material y métodos: estudio multicéntrico transversal. Participaron 12 hospitales nacionales. De noviembre a abril del 2012 al 2014 se incluyeron 377 pacientes con fibrosis quística. Se consideraron insuficientes niveles de vitamina D30 ng/ml. Presentar al menos dos cultivos positivos en el último año fue considerado un criterio de colonización crónica. Resultados: los pacientes tenían una mediana de edad de 8,9 años (2 meses—20 años). Un 65% presentaban niveles insuficientes de vitamina D. Se observó una correlación inversa entre edad y niveles de vitamina D (r = -0,20 p0,001). Los diagnosticados por cribado eran más jóvenes y tenían niveles de vitamina D más altos. Los niveles de vitamina D presentaron una correlación inversa con el número de colonizaciones pulmonares (r = -0,16 p = 0,0015). Ajustando por edad, función pancreática y diagnóstico mediante cribado, la colonización por S. Aureus en menores de seis años y por Pseudomonas sp. en los mayores de esa edad, incrementaban el riesgo de presentar niveles insuficientes de vitamina D: OR 3,17 (IC95% 1,32-7,61) (p=0,010) y OR 3,77 (IC95% 1,37- 10,37)(p = 0,010), respectivamente. Conclusiones: a pesar de una suplementación adecuada, más de la mitad de nuestros pacientes no alcanzan niveles óptimos de vitamina D. La colonización crónica por Pseudomonas sp. en escolares y adolescentes y por S. Aureus en lactantes y preescolares se asocia de forma independiente con la deficiencia de vitamina D.