Hirschsprung disease associated with total colonic agenesis and imperforate anus—case report and review of the literature

Zundel, Sabine; Obermayr, Florian; Schaefer, Juergen F.; Fuchs, Joerg

doi:10.1016/j.jpedsurg.2009.09.036

Cited by 11 publications

(2 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Hirschsprung’s disease is a common congenital disorder with an incidence of 1 in 5000 live births. This condition results from disordered motor function of the distal alimentary tract, including the internal anal sphincter, and an absence of parasympathetic intramural ganglion cells in the hindgut, which leads to intestinal obstruction in neonates and intractable constipation in infants and adults (Brooks et al, 2005; Emison et al, 2005; Zundel et al, 2010). HSCR is related to the obstruction of ENS development.…”

Section: Introductionmentioning

confidence: 99%

BMP2 Is Related to Hirschsprung’s Disease and Required for Enteric Nervous System Development

Huang

Wang

Luo

et al. 2019

Front. Cell. Neurosci.

View full text Add to dashboard Cite

The enteric nervous system (ENS) is derived from neural crest cells (NCCs). Defects in ENS NCCs colonizing in the intestines lead to an absence of enteric ganglia in the colon and results in Hirschsprung’s disease (HSCR). Bone morphogenetic proteins (BMPs) play diverse roles in the proliferation, migration and survival of ENS NCCs; however, whether BMPs are involved in HSCR and the underlying mechanism remains largely unknown. In this study, we found that BMP2 expression is significantly decreased in HSCR patients. Further experiments demonstrated that BMP2 is involved in the regulation of NCC proliferation, migration and differentiation. In a detailed analysis of the role of BMP2 in HSCR development in vivo, we demonstrated that BMP2b regulates the proliferation, migration and differentiation of vagal NCCs in zebrafish and that BMP2b is required for intestinal smooth muscle development. In addition, we showed that BMP2b is involved in regulating the expression of glial cell line-derived neurotrophic factor (GDNF) in the intestine, which mediates the regulation of ENS development by BMP2b in zebrafish. These results highlight a central role of the BMP-GDNF cascade in intestinal patterning and ENS development. Our results further demonstrate the key role of BMP2 in the etiology of HSCR in vitro and in vivo.

show abstract

Section: Introductionmentioning

confidence: 99%