title: Advances in Hirschsprung disease genetics and treatment strategies: an update for the primary care pediatrician.
abstract: Hirschsprung disease (HSCR) is a multigenic condition with variable presentation. Most commonly, it presents in the neonatal period as a functional intestinal obstruction secondary to failure of caudal migration of the enteric nervous system. Classically, this manifests as dilated proximal bowel and constricted distal bowel with absent ganglia and hypertrophic nerve trunks. When recognized early, medical and surgical therapies can be instituted to minimize associated morbidity and mortality. This article reviews current understanding of the etiology of HSCR, its multigenic associations, the historical evolution of HSCR diagnosis and treatment, and current HSCR therapies.
authors.affiliation: 1Wright State University School of Medicine, Dayton, OH, USA.
authors.forename: Deepika D'Cunha
authors.initials: DD
authors.lastname: Burkardt
authors.forename: John M
authors.initials: JM
authors.lastname: Graham
authors.forename: Scott S
authors.initials: SS
authors.lastname: Short
authors.forename: Philip K
authors.initials: PK
authors.lastname: Frykman
mesh_terms: D002869:Chromosome Aberrations; D003937:Diagnosis, Differential; D005819:Genetic Markers; D006627:Hirschsprung Disease / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000628:therapy*; D006801:Humans; D010372:Pediatrics; D011320:Primary Health Care
chemical_list: D005819:Genetic Markers
keywords: Hirschsprung disease; Hirschsprung-associated enterocolitis; aganglionosis; congenital megacolon; enteric nervous system; genetics; intestinal neuronal dysplasia