title: Duodenal atresia associated with "apple peel" small bowel without deletion of fibroblast growth factor-10 or fibroblast growth factor receptor 2IIIb: report of a case.
abstract: We report a case of duodenal membranous atresia associated with "apple peel" small bowel in a baby girl. The patient's mother and sibling had also undergone surgery for duodenal atresia. Familial duodenal atresia is sometimes the result of genetic, inherited abnormalities. Fibroblast growth factor (FGF) receptor 2IIIb (Fgfr2b) and Fgf10 are known regulatory molecules relevant to mesenchymal-epithelial interactions. The involvement of the Fgf10/Fgfr2b pathway in the pathogenesis of intestinal atresia are related to tissue-specific transcription factors, which regulate the expression of Fgf10 according to the organ system and the stage of gestation. Furthermore, a spontaneous somatic mutation or a point mutation of Fgf10 early in development would result in a genetic mosaic pattern. Fluorescent in situ hybridization did not show homozygous or heterozygous deletion of the Fgf10 or Fgfr2b gene in this case. It is necessary to study the occurrence of duodenal atresia in posterity and investigate the deletion of the Fgfr2b or Fgf10 genes if possible.
authors.affiliation: Department of Surgery, Nara Medical University, Kashihara, Nara 634-8522, Japan.
authors.forename: Yukihiro
authors.initials: Y
authors.lastname: Tatekawa
authors.forename: Hiromichi
authors.initials: H
authors.lastname: Kanehiro
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Nakajima
mesh_terms: D004380:Duodenal Obstruction / Q000151:congenital* / Q000235:genetics* / Q000601:surgery; D005260:Female; D051526:Fibroblast Growth Factor 10 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007409:Intestinal Atresia / Q000235:genetics* / Q000601:surgery; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*
chemical_list: C496463:FGF10 protein, human; D051526:Fibroblast Growth Factor 10; D051497:Receptor, Fibroblast Growth Factor, Type 2; C065104:keratinocyte growth factor receptor