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 place of work:
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 the journal:
Čes-slov Pediat 2013; 68 (5): 319-330.
Category:
Original Papers
Summary
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
Zdroje
1. Kenny SE, Tam PK, Garcia-Barcelo M. Hirschsprung’s disease. Semin Pediatr Surg 2010; 19: 194–200.
2. Newgreen D, Young HM. Enteric nervous system: development and developmental disturbances – part 1. Pediatr Dev Pathol 2002; 5: 224–247.
3. Zábojníková L, Cingel V, Murgaš D, Fuňáková M, Sláviková T, Varga I. The development of enteric nervous system and pathogenesis of Hirschsprung disease. Čes-slov Pediat 2012; 67: 402–409.
4. Newgreen D, Young HM. Enteric nervous system: development and developmental disturbances – part 2. Pediatr Dev Pathol 2002; 5: 329– 349.
5. Vickaryous MK, Hall BK. Human cell type divrsity, evolution, development, and classification with special reference to cells derived from the neural crest. Biol Rev Camb Philos Soc 2006; 81: 425–455.
6. Bronner ME, LeDouarin NM. Development and evolution of the neural crest: an overview. Dev Biol 2012; 366: 2–9.
7. Anderson RB, Newgreen DF, Young HM. Neural crest and the development of the enteric nervous system. Adv Exp Med Biol 2006; 589: 181–196.
8. Ibarretxe G, Crende O, Aurrekoetxea M, García-Murga V, Etxaniz J, Unda F. Neural crest stem cells from dental tissues: a new hope for dental and neural regeneration. Stem Cells Int 2012; 2012: 103503.
9. Varga I, Pospisilova V, Gmitterova K, Galfiova P, Polak S, Galbavy S. The phylogenesis and ontogenesis of the human pharyngeal region focused on the thymus, parathyroid, and thyroid glands. Neuro Endocrinol Lett 2008; 29: 837–845.
10. Graham A, Richardson J. Developmental and evolutionary origins of the pharyngeal apparatus. EvoDevo 2012; 3: 24.
11. Keyte A, Hutson MR. The neural crest in cardiac congenital anomalies. Differentiation 2012; 84: 25–40.
12. Hall BK. The neural crest as a fourth layer and vertebrates as quadroblastic not triploblastic. Evolution & Development 2000; 2: 3–5.
13. Duhamel B. A new operation for the treatment of Hirschsprung’s disease. Arch Dis Child 1960; 35: 38–39.
14. Ikeda K. New techniques in the surgical treatment of Hirschsprung’s disease. Surgery 1967; 61: 503–505.
15. Soper RT, Miller FE. Modification of Duhamel procedure: elimination of rectal pouch and colorectal septum. J Pediatr Surg 1968; 3: 376–385.
16. Vidiščák M, Kirňák J, Smrek M. Výsledky operácií u detí s megacolon congenitum. Rozhl Chir 2001; 80 (4): 197–200.
17. Kang P, Svoboda KK. Epithelial-mesenchymal transformation during craniofacial development. J Dent Res 2005; 84: 678–690.
18. Vaglia JL, Hall BK. Regulation of neural crest cell populations: occurrence, distribution and underlying mechanisms. Int J Dev Biol 1999; 43: 95–110.
19. Baker CV. The evolution and elaboration of vertebrate neural crest cells. Curr Opin Genet Dev 2008; 18: 536–543.
20. Varga I, Hollý D, Vojtaššák J, Böhmer D, Polák Š, Danišovič Ľ. Morphological characterization of in vitro expanded human dental pulp-derived stem cells. Biologia 2011; 66: 707–711.
21. Bolande RP. The neurocristopathies: A unifying concept of disease arising in neural crest maldevelopment. Hum Pathol 1974; 5: 409–429.
22. Bolande RP. Neurocristopathy: its growth and development in 20 years. Pediatr Pathol Lab Med 1997; 17: 1–25.
23. Martucciello G. Hirschsprung‘s disease as a neurochristopathy. Pediatr Surg Int 1997; 12: 2–10.
24. Badner JA, Sieber WK, Garver KL, Chakravarti A. A genetic study of Hirschsprung disease. Am J Hum Genet 1990; 46: 568–580.
25. Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, et al; Hirschsprung Disease Consortium. Hirschsprung disease, associated syndromes and genetics: a review. J Med Genet 2008; 45: 1–14.
26. Moore SW. The contribution of associated congenital anomalies in understanding Hirschsprung‘s disease. Pediatr Surg Int 2006; 22: 305–315.
27. Kushch NL, Grona VN, Kimbarovskaia EM, Evseeva LI. Clinico-immunologic comparisons of developmental defects of the large intestine in children. Klin Khir 1988; 6: 10–12.
28. Itoi M, Tsukamoto, Yoshida H, Amagai T. Mesenchymal cells are required for functional development of thymic epithelial cells. Int Immunol 2006; 19: 953–964.
29. Foster K, Sheridan J, Veiga-Fernandes H, Roderick K, Pachnis V, et al. Contribution of neural crest-derived cells in the embryonic and adult thymus. J Immunol 2008; 180: 3183–3189.
30. Varga I, Pospisilova V, Jablonska-Mestanova V, Galfiova P, Polak S. The thymus: Picture review of human thymus prenatal development. Bratisl lek Listy 2011; 112: 368–376.
31. Vaclavikova E, Kavalcova L, Skaba R, Dvorakova S, Macokova P, Rouskova B, Bendlova B. Hirschsprung’s disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene. Pediatr Surg Int 2012; 28: 123–128.
32. Dvořáková Š, Václavíková E, Škába R, Kavalcová L, Bendlová B. Hirschsprungova choroba a její genetické příčiny. Čes-slov Pediat 2013; 68 (3): 167–176.
33. Jijiwa M, Fukuda T, Kawai K, Nakamura A, Kurokawa K, et al. A targeting mutation of tyrosine 1062 in Ret causes a marked decrease of enteric neurons and renal hypoplasia. Mol Cell Biol 2004; 24: 8026–8036.
34. Chi X, Michos O. Immunohistochemical staining of dpERK staining during early kidney development. Methods Mol Biol 2012; 886: 261–265.
35. Moore SW, Tshifularo N. Hirschsprung‘s disease in the neurologically challenged child. Int J Adolesc Med Health 2011; 23: 223–227.
36. Shahar E, Shinawi M. Neurocristopathies presenting with neurologic abnormalities associated with Hirschsprung‘s disease. Pediatr Neurol 2003; 28: 385–391.
37. Baranyay F, Bogár G, Sebestyén M. Adult Hirschsprung‘s disease with mental retardation and microcephaly. Orv Hetil 2000; 141: 1673–1676.
38. Ausó E, Lavado-Autric R, Cuevas E, Del Rey FE, Morreale De Escobar G, Berbel P. A moderate and transient deficiency of maternal thyroid function at the beginning of fetal neocorticogenesis alters neuronal migration. Endocrinology 2004; 145: 4037–4047.
39. Mustafin AA, Sultanova LM. Differential diagnosis of Hirschsprung‘s disease and congenital hypothyroidism in children. Vestn Khir Im I I Grek 1985; 134: 89–91.
40. Kota SK, Modi KD, Rao MM. Hirschsprungs disease with congenital hypothyroidism. Indian Pediatr 2012; 49: 245–246.
41. Eren M, Celik M, Kinik S, Arda IS. A case of Hirschsprung disease: does thyroid hormone have any effect? Turk J Pediatr 2009; 51: 94–96.
42. Monroy-Santoyo S, Ibarra-González I, Fernández-Lainez C, Greenawalt-Rodríguez S, Chacón-Rey J, et al. Higher incidence of thyroid agenesis in Mexican newborns with congenital hypothyroidism associated with birth defects. Early Hum Dev 2012; 88: 61–64.
43. Manley NR, Capecchi MR. Hox group 3 paralogs regulate the development and migration of the thymus, thyroid, and parathyroid glands. Dev Biol 1998; 195: 1–15.
44. Goto S, Billmire DF, Grosfeld JL. Hypothyroidism impairs colonic motility and function. An experimental study in the rat. Eur J Pediatr Surg 1992; 2: 16–21.
45. Sinha CK, Grewal A, Ward HC. Short-segment Hirschsprung‘s disease, cat eye syndrome, and anorectal malformation: a unique association. J Pediatr Surg 2007; 42 (8): 1454–1456.
46. Fahed AC, Gelb BD, Seidman JG, Seidman CE. Genetics of congenital heart disease: the glass half empty. Circ Res 2013; 112: 707–720.
47. Spouge D, Baird PA. Hirschsprung disease in a large birth cohort. Teratology 1985; 32: 171–177.
48. Pelech AN, Broeckel U. Toward to etiologies of congenital heart disease. Clin Perinatol 2005; 32: 825–844.
49. Hutson MR, Kirby ML. Model systems for the study of heart development and disease. Cardiac neural crest and conotruncal malformations. Semin Cell Dev Biol 2007; 18: 101–110.
50. Bergstrom CS, Saunders RA, Hutchinson AK, Lambert SR. Iris hypoplasia and aorticopulmonary septal defect: a neurocristopathy. J AAPOS 2005; 9: 264–267.
51. el-Halaby E, Coran AG. Hirschsprung‘s disease associated with Ondine‘s curse: report of three cases and review of the literature. J Pediatr Surg 1994; 29: 530–535.
52. Nagaya M, Kato J, Niimi N, Tanaka S, Wakamatsu N. Clinical features of a form of Hirschsprung‘s disease caused by a novel genetic abnormality. J Pediatr Surg 2002; 37: 1117–1122.
53. Skiker H, Laghmari M, Cherkaoui O, Lachgar R, Daoudi R. Bilateral Duane syndrome associated with crocodile tears, and congenital megacolon: a case study. J Fr Ophtalmol 2008; 31: e6.
54. Farlie PG, McKeown SJ, Newgreen DF. The neural crest: basic biology and clinical relationships in the craniofacial and enteric nervous systems. Birth Defects Res C Embryo Today 2004; 72: 173–189.
55. Amiel J, Lyonnet S. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet 2001; 38: 729–739.
56. Arnold S, Pelet A, Amiel J, Borrego S, Hofstra R, et al. Interaction between a chromosome 10 RET enhancer and chromosome 21 in the Down syndrome-Hirschsprung disease association. Hum Mutat 2009; 30: 771–775.
57. Travassos D, van Herwaarden-Lindeboom M, van der Zee DC. Hirschsprung’s disease in children with Down syndrome: a comparative study. Eur J Pediatr Surg 2011; 21: 220–223.
58. Morrison KM, Miesegaes GR, Lumpkin EA, Maricich SM. Mammalian Merkel cells are descended from the epidermal lineage. Dev Biol 2009; 336: 76–83.
59. Szeder V, Grim M, Halata Z, Sieber-Blum M. Neural crest origin of mammalian Merkel cells. Dev Biol 2003; 253: 258–263.
60. Shuman L, Youmans D. Haddad syndrome: a case study. Neonatal Network 2005; 24: 41–44.
61. Mahmoudi A, Rami M, Khattala K, Elmadi A, Afifi MA, Youssef B. Shah-Waardenburg syndrome. Pan Afr Med J 2013; 14: 60.
62. Martucciello G, Lerone M, Bricco L, Tonini GP, Lombardi L, Del Rossi CG, Bernasconi S. Multiple endocrine neoplasias type 2B and RET proto-oncogene. Ital J Pediatr 2012; 38: 9.
63. Amiel J, Lyonnet S. Hirschsprung disease, associated syndromes, and genetics: a review. J Med Genet 2001; 38: 729-739.
64. Lin AE, Gorlin RJ, Lurie IW, Brunner HG, van der Burgt I, et al. Further delineation of the branchio-oculo-facial syndrome. Am J Med Genet 1995; 56: 42–59.
65. Quatresooz P, Vandenbossche G, Piérard-Franchimont C, Piérard GE. Skin and its main neurocristopathies. Rev Med Liege 2008; 63: 354–358.
66. Jiang M, Stanke J, Lahti JM. The connections between neural crest development and neuroblastoma. Curr Top Dev Biol 2011; 94: 77–127.
67. Volkovova K, Bilanicova D, Bartonova A, Letašiová S, Dusinska M. Associations between environmental factors and incidence of cutaneous melanoma. Review. Environ Health 2012; 11 (Suppl 1): S12.
68. Mehta P, Agrawal P, Luthert P, Durrani OM. Optic nerve sheath meningioma in a patient with choroidal malignant melanoma: a case report of a complex neurocristopathy. Orbit 2009; 28: 436–438.
Štítky
Neonatology Paediatrics General practitioner for children and adolescentsČlánok vyšiel v časopise
Czech-Slovak Pediatrics
2013 Číslo 5
- What Effect Can Be Expected from Limosilactobacillus reuteri in Mucositis and Peri-Implantitis?
- The Importance of Limosilactobacillus reuteri in Administration to Diabetics with Gingivitis
Najčítanejšie v tomto čísle
- Alcohol and drug intoxications in adolescents admitted to paediatric centres in the Czech Republic
- Neurocristopathies: The role of neural crest-derived cells in pathogenesis of congenital anomalies in the example of Hirschsprung´s disease
- Clinical context of the thyroid gland development and its disorders in the fetus and newborn (part 2)
- Are children’s sandpits safe for children’s health?