Libro blanco de las ACES Pediátricas 2024

Libro Blanco de las ACES Pediátricas 2024 290 ❚ 12 (including genetic conditions): • Congenital enteropathies: microvillus inclusion disease, tufting enteropathy and phenotypic diarrhoea • Transport disorders including acrodermatitis enteropathica, glucose- galactose malabsorption, and sucrase-isomaltase deficiency • Congenital protein-losing enteropathies (e.g. congenital lymphangiectasia or congenital disorders of glycosylation) or acquired (e.g. post-Fontan procedure) • Diarrhoea caused by immune dysregulation: • Congenital (e.g. immunoglobulin deficiency, immunodysregulation polyendocrinopathy enteropathy X-linked syndrome [IPEX], severe combined immunodeficiency [SCID] and Omenn syndrome/Hyper IgE syndrome) • Acquired – secondary to other diseases or treatments (e.g. post-organ transplant or due to human immunodeficiency virus [HIV] infection) 6. Recognizes and manages secretory diarrhoea, including that due to infection, congenital but also hormone-secreting tumours such as a VIPoma, mucosal compromise due to gut ischaemia H 7. Recognises the presenting features of coeliac disease • Knows the appropriate investigations to diagnose coeliac disease: interpretation of serological tests, the indications for endoscopy and interprets histopathological classification, role of genetics in CD diagnosis • Knows the nutritional aspects of the gluten-free diet • Recognises the importance of adherence to a gluten-free diet in coeliac disease • Recognise the key points for patient follow up focusing on compliance and monitoring for complications • Knows how, when and why to perform a gluten challenge • Understands advises on the testing of other family members for coeliac disease • Understands psychosocial and financial burden of restrictive gluten free diet H 8. Manages pancreatic exocrine insufficiency including cystic fibrosis, chronic pancreatitis, Shwachman-Bodian-Diamond syndrome, and mitochondrial disease (e.g. Pearson’s syndrome) H III Management of GI anomalies requiring surgical treatment in early infancy Including: • Abdominal wall defects • Oesophageal atresia +/- tracheoesophageal fistula • Duodenal obstructions • Intestinal atresia • Anorectal anomalies • Pyloric stenosis • Hirschsprung’s disease • Meconium ileus and distal intestinal obstruction syndrome 1. Understands possible genetic causes or associations of congenital GI anomalies B 2. Be able to collaborate with surgeons regarding diagnosis, treatment, possible complications and follow up H