Neurocristopathies: The role of neural crest-derived cells in pathogenesis of congenital anomalies in the example of Hirschsprung´s disease
Authors:
T. Sláviková 1; L. Zábojníková 2; Š. Polák 1; I. Varga 1
Authors‘ workplace:
Ústav histológie a embryológie LFUK, Bratislavaprednosta doc. MUDr. Š. Polák, CSc.
1; Klinika detskej chirurgie, DFNsP a LFUK, Bratislavaprednosta doc. MUDr. J. Trnka, CSc.
2
Published in:
Čes-slov Pediat 2013; 68 (5): 319-330.
Category:
Original Papers
Overview
Hirschsprung´s disease (HSCR) is the most common congenital gut motility disorder and is characterized by a lack of nerve ganglia (aganglionosis) in a variable length of aboral gut. Hirschsprung´s disease, as a neurocristopathy, has a strong association with numerous other congenital anomalies, syndromes and also functional abnormalities. In our group of examined patients with HSCR the incidence of associated congenital anomalies was 26.1%. But if we also add malfunctions (hypothyroidism, primary defects in cellular immunity, neurological and psychomotor deficit), the rate of the patients with HSCR with additional defects achieves more than 50%. Most of these anomalies are based on disrupt development, migration or differentiation of multipotent neural crest cells during embryogenesis. We describe an embryological relationship among disrupted development of enteric nervous system, and developmental anomalies of the thymus and urinary system, congenital hypothyroidism, congenital heart defects, Down syndrome (trisomy 21) or craniofacial abnormalities. Our results show that Hirschsprung´s disease is not only a simple lack of neurons in aboral part of gut, but associated anomalies and malfunctions may affect numerous organs and may influence many physiological processes.
Key words:
Hirschsprung´s disease, neural crest, cellular immunity, congenital genito-urinary anomalies, congenital hypothyroidism, anorectal malformations, Down syndrome, congenital heart defect
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Neonatology Paediatrics General practitioner for children and adolescentsArticle was published in
Czech-Slovak Pediatrics
2013 Issue 5
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