Gastrointestinale Manifestationen bei zystischer Fibrose

The gene product of cystic fibrosis – the CFTR – is expressed within the gastrointestinal tract in epithelial cells of the small and large bowel, the pancreatic acini and the biliary tree, but not in the liver. For some of the manifestations of CF in the GI-tract there is a genotype-phenotype-correlation. Patients with the ΔF508 mutation present with pancreatic insufficiency (PI). PI correlates with the appearance of meconium ileus and distal intestinal obstruction syndrome (DIOS). The gold standard for the diagnosis of PI is the quantitative determination of fat in a 3–5 stool collection. The treatment consists in the administration of microcapsulated pancreatic extracts in a dose of 5.000 to 10.0000 units of liapse/kg/day. Higher doses up to 50.000 units of lipase/kg/day have been implicated with the occurence of fibrosing colonopathy in the early 90ties. As for the hepato-biliary manifestations of CF, cholelithiasis, atresia of the cystic duct and a biliary cirrhosis are the main pathologies. The focal nodular cirrhosis turns into a multilobular cirrhosis in 24% of all adults with CF combined with portal hypertension and esophageal varices. In newborn a prolonged neonatal cholestasis can occur with symptoms similar to those in extrahepatic biliary atresia. The treatment of the hepatopathy in CF is difficult. The oral administration of ursodeoxcholic acid (15–20 mg/kg/day) was shown to be effective in some studies. Up to 25% of CF patients are suffering from gastro-esophageal reflux disease (GER). An esophagoscopy is assessing the degree of esophagitis, which is treated with omeprazol. The meconium ileus of the newborn is pathognomonic for the presence of cystic fibrosis. DIOS is present in 35% of 1000 patient years particularly in adolescents and adults with CF. Together with DIOS an acute appendicitis or an intusseption can be present. Since the daily dose of oral panceratic extracts has been limited, the occurence of fibrosing colonopathy has decreased. More often in the last few years a severe pancolitis was noticed in adult patients with CF due to Clostridium difficile infection. Diarrhea, abdominal pain together with signs of inflammation lead to that severe, sometime life threatening disease. The ultrasonographic visualization of the colon shows enormous enlargement of the inflamed colon easely. Rare manifestation of CF in the GI-tract comprise malignant disease like adenocarcinoma, the infection with Giardia lamblia, the development of inflammatory bowel disease, e. g. Crohn's disease and the occurence of celiac disease.     

Gastrointestinale Stromatumoren im Kindes- und Jugendalter

Gastrointestinal stromal tumors (GISTs) are extremely rare among children and differ clinically and biologically from adult GISTs. The characteristic molecular genetic alterations of these neoplasms, i.e. oncogenic mutations of the receptor tyrosine kinase genes KIT and platelet-derived growth factor receptor alpha (PDGFRA) making them amenable to targeted therapy by receptor tyrosine kinase inhibitors, are uncommon in pediatric GISTs. Standards for the management of GISTs in children and adolescents do not presently exist. The nationwide registration of these patients within the soft tissue sarcoma register of the Cooperative Weichteilsarkom Studiengruppe (SoTiSaR) is a prerequisite to increase the knowledge about these rare tumors and to develop appropriate management strategies.     

Gastrointestinale Verätzung und Fremdkörperingestion

Zusammenfassung Die Ingestion von ätzenden Substanzen und Fremdkörpern ist ein häufiges Problem bei Kindern im Alter von 1–4 Jahren. Führende Symptome sind Nahrungsverweigerung, Speicheln, Unruhe und Erbrechen. Bei der Fremdkörperingestion handelt es sich in mehr als 80% der Fälle um Münzen. Eine sofortige Endoskopieindikation besteht aufgrund der Aspirationsgefahr für Fremdkörper im oberen Ösophagussphinkter sowie bei drohender Perforation. Tiefer im Ösophagus festsitzende Gegenstände und Knopfbatterien im Magen sollten frühzeitig radiologisch kontrolliert und bei unveränderter Lage entfernt werden. Bei nichttoxischen, mechanisch ungefährlichen Fremdkörpern im Magen kann zugewartet werden. Die Verätzung durch Säuren und Laugen zieht oft schwere Folgen wie Motilitätsstörungen, Strikturenbildung oder gar Perforation nach sich. Eine endoskopische Evaluation sollte 6–24 h nach dem Ereignis erfolgen. Ab einer zweitgradigen Verätzung muss mit evtl. notwendigen Dilatationen von narbigen Strikturen gerechnet werden. Der Effekt einer Steroidtherapie auf die Narbenbildung ist umstritten. Der orale Nahrungsaufbau sollte nach Wiedereinsetzen der Schluckfunktion begonnen werden, ggf. kann auch über ein Gastrostoma eine enterale Ernährung erfolgen.