title: [Restorative proctocolectomy with ileoanal J-pouch in symptomatic children with familial adenomatous polyposis coli (FAP). Indications and results].
abstract: Familial adenomatous polyposis (FAP) is a genetic disorder leading to the early development of numerous polyps of the entire colorectum. First polyps usually emerge in puberty and cause symptoms in the third and fourth decade of life when a malignant transformation of the adenomas via an adenoma-carcinoma-sequence has often already occurred. Extracolonic manifestations and age of onset of the disease show a wide range of variability rendering the establishment of unequivocal standards for the timing of diagnostic, prophylactic and therapeutic modalities difficult. We report the cases of two unrelated children who presented with severe symptomatic, pancolonic polyposis already at the age of 3. Molecular diagnostics revealed a 'new mutation' in one case, the other child had a family history for FAP. Rapid progression of the disease with anemia and slight growth retardation were the indications for prophylactic surgery at the age of 7. The operative procedure performed was restorative proctocolectomy followed by an ileal pouch-anal anastomosis. Both children developed small bowel adhesions that forced us to perform an early closure of the protective ileostomy 3 weeks postoperatively. The subsequent course was uneventful. The children are now thriving and lead a normal social life. After only 3 months their stool frequency ranged between 2 and 5 times daily.
authors.affiliation: Chirurgische Klinik, Universität Heidelberg.
authors.forename: G
authors.initials: G
authors.lastname: Möslein
authors.forename: M
authors.initials: M
authors.lastname: Kadmon
authors.forename: W
authors.initials: W
authors.lastname: Friedl
authors.forename: C
authors.initials: C
authors.lastname: Herfarth
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D017491:Genes, APC / Q000235:genetics; D006801:Humans; D007081:Ileostomy; D007413:Intestinal Mucosa / Q000473:pathology / Q000601:surgery; D008297:Male; D010375:Pedigree; D011183:Postoperative Complications / Q000473:pathology / Q000601:surgery; D016737:Proctocolectomy, Restorative / Q000379:methods*; D012086:Reoperation
vernacular_title: Restaurative Proktocolektomie mit ileoanalem J-Pouch bei symptomatischen Kindern mit familiärer adenomatöser Polyposis coli (FAP). Indikation und Ergebnisse.