Abstract
Enteric neuropathy is a term indicating an impairment of the innervation supplying the gastrointestinal tract. The clinical phenotypes of the enteric neuropathies are the ‘tip of the iceberg’ of severe functional digestive diseases, such as intestinal pseudo-obstruction syndromes (e.g., chronic intestinal pseudo-obstruction). Despite progress acquired over the years, the pathogenetic mechanisms leading to enteric neuropathies are still far from being elucidated and the therapeutic approaches to these patients are mainly supportive, rather than curative.The purpose of this chapter is to review the advancements that have been done in the knowledge of enteric neuropathies identified in adult patients (‘tomorrow’), going through where we currently are (‘today’) following a brief history of the major milestones on the pioneering discoveries in the field (‘yesterday’).
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References
Accarino A, De Giorgio R, Cogliandro RF, Malagelada C, Gori A, Malagelada JR, Stanghellini V, Azpiroz F (2012) Diagnosis of enteric dysmotility: are manometric disturbances predictable of histopathological findings. Neurogastroenterol Motil 24(Suppl 2):100 (Abstract)
Anitha M, Vijay-Kumar M, Sitaraman SV, Gewirtz AT, Srinivasan S (2012) Gut microbial products regulate murine gastrointestinal motility via Toll-like receptor 4 signaling. Gastroenterology 143:1006–1016
Bodian M, Stephens FD, Ward BCH (1949) Hirschsprung’s disease and idiopathic megacolon. Lancet 1(6540):6–11
Bonora E, Bianco F, Cordeddu L, Bamshad M, Francescatto L, Dowless D, Stanghellini V, Cogliandro RF, Lindberg G, Mungan Z, Cefle K, Ozcelik T, Palanduz S, Ozturk S, Gedikbasi A, Gori A, Pippucci T, Graziano C, Volta U, Caio G, Barbara G, D’Amato M, Seri M, Katsanis N, Romeo G, De Giorgio R (2015) Mutations in RAD21 disrupt regulation of APOB in patients with chronic intestinal pseudo-obstruction. Gastroenterology 148:771–782
De Giorgio R, Blandizzi C (2010) Targeting enteric neuroplasticity: diet and bugs as new key factors. Gastroenterology 138:1663–1666
De Giorgio R, Camilleri M (2004) Human Enteric neuropathies (ENs): morphology and molecular pathology. Neurogastroenterol Motil 16:515–531
De Giorgio R, Guerrini S, Barbara G, Stanghellini V, De Ponti F, Corinaldesi R, Moses PL, Sharkey KA, Mawe GM (2004) Inflammatory neuropathies of the enteric nervous system. Gastroenterology 126:1872–1883
De Giorgio R, Cogliandro RF, Barbara G, Corinaldesi R, Stanghellini V (2011) Chronic intestinal pseudo-obstruction: clinical features, diagnosis, and therapy. Gastroenterol Clin North Am 40:787–807
De Giorgio R, Giancola F, Boschetti E, Abdo H, Lardeux B, Neunlist M (2012) Enteric glia and neuroprotection: basic and clinical aspects. Am J Physiol Gastrointest Liver Physiol 303:G887–G893
Deglincerti A, De Giorgio R, Cefle K, Devoto M, Pippucci T, Castegnaro G, Panza E, Barbara G, Cogliandro RF, Mungan Z, Palanduz S, Corinaldesi R, Romeo G, Seri M, Stanghellini V (2007) A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. Eur J Hum Genet 15:889–897
Dienstmann R, Dong F, Borger D, Dias-Santagata D, Ellisen LW, Le LP, Iafrate AJ (2014) Signatures of mutational processes in human cancer: standardized decision support in next generation sequencing reports of somatic cancer variants. Mol Oncol 8:859–873
Ehrenpreis T (1965) Pseudo-Hirschsprung’s disease. Arch Dis Child 40:177–179
Furness JB (2012) The enteric nervous system and neurogastroenterology. Nat Rev Gastroenterol Hepatol 9:286–294
Gilissen C, Hehir-Kwa JY, Thung DT, van de Vorst M, van Bon BW, Willemsen MH, Kwint M, Janssen IM, Hoischen A, Schenck A, Leach R, Klein R, Tearle R, Bo T, Pfundt R, Yntema HG, de Vries BB, Kleefstra T, Brunner HG, Vissers LE, Veltman JA (2014) Genome sequencing identifies major causes of severe intellectual disability. Nature 511:344–347
Giordano C, Sebastiani M, De Giorgio R, Travaglini C, Tancredi A, Valentino ML, Bellan M, Cossarizza A, Hirano M, d’Amati G, Carelli V (2008) Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. Am J Pathol 173:1120–1128
Hall KE, Wiley JW (1998) Neural injury, repair and adaptation in the GI tract. I. New insights into neuronal injury: a cautionary tale. Am J Physiol 274:G978–G983
He CL, Burgart L, Wang L, Pemberton J, Young-Fadok T, Szurszewski J, Farrugia G (2000) Decreased interstitial cell of Cajal volume in patients with slow-transit constipation. Gastroenterology 118:14–21
Hirschsprung H (1886) Stuhlträgheit Neugeborener in Folge von Dilatation und Hypertrophie des Colons. Jahrb f Kinderh 27:1–7
Kimber TE, Blumbergs PC, Rice JP, Hallpike JF, Edis R, Thompson PD, Suthers G (1998) Familial neuronal intranuclear inclusion disease with ubiquitin positive inclusions. J Neurol Sci 160:33–40
Knowles CH, Silk DB, Darzi A, Veress B, Feakins R, Raimundo AH, Crompton T, Browning EC, Lindberg G, Martin JE (2004) Deranged smooth muscle alpha-actin as a biomarker of intestinal pseudo-obstruction: a controlled multinational case series. Gut 53:1583–1589
Knowles CH, Veress B, Tornblom H, Wallace S, Paraskeva P, Darzi A, Martin JE, Nyberg B, Lindberg G (2008) Safety and diagnostic yield of laparoscopically assisted full-thickness bowel biospy. Neurogastroenterol Motil 20:774–779
Knowles CH, De Giorgio R, Kapur RP, Bruder E, Farrugia G, Geboes K, Gershon MD, Hutson J, Lindberg G, Martin JE, Meier-Ruge WA, Milla PJ, Smith VV, Vandervinden JM, Veress B, Wedel T (2009) Gastrointestinal neuromuscular pathology: guidelines for histological techniques and reporting on behalf of the Gastro 2009 International Working Group. Acta Neuropathol 118:271–301
Knowles CH, De Giorgio R, Kapur RP, Bruder E, Farrugia G, Geboes K, Lindberg G, Martin JE, Meier-Ruge WA, Milla PJ, Smith VV, Vandervinden JM, Veress B, Wedel T (2010) The London Classification of gastrointestinal neuromuscular pathology: report on behalf of the Gastro 2009 International Working Group. Gut 59:882–887
Knowles CH, Lindberg G, Panza E, De Giorgio R (2013) New perspectives in the diagnosis and management of enteric neuropathies. Nat Rev Gastroenterol Hepatol 10:206–218
Krishnamurthy S, Schuffler MD (1987) Pathology of neuromuscular disorders of the small intestine and colon. Gastroenterology 93:610–639
Laranjeira C, Pachnis V (2009) Enteric nervous system development: recent progress and future challenges. Auton Neurosci 151:61–69
Lindberg G, Tornblom H, Iwarzon M, Nyberg B, Martin JE, Veress B (2009) Full-thickness biopsy findings in chronic intestinal pseudo-obstruction and enteric dysmotility. Gut 58:1084–1090
Mungan Z, Akyüz F, Bugra Z, Yönall O, Oztürk S, Acar A, Cevikbas U (2003) Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett’s esophagus, and cardiac abnormalities. Am J Gastroenterol 98:2556–2560
Nguyen AT, Zacharin MR, Smith M, Hardikar W (2006) Isolated intestinal ganglioneuromatosis with a new mutation of RET proto-oncogene. Eur J Gastroenterol Hepatol 18:803–805
Panza E, Knowles CH, Graziano C, Thapar N, Burns AJ, Seri M, Stanghellini V, De Giorgio R (2012) Genetics of human enteric neuropathies. Prog Neurobiol 96:176–189
Pingault V, Girard M, Bondurand N, Dorkins H, Van Maldergem L, Mowat D, Shimotake T, Verma I, Baumann C, Goossens M (2002) SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism. Hum Genet 111:198–206
Raue F, Frank-Raue K (2010) Update multiple endocrine neoplasia type 2. Fam Cancer 9:449–457
Sarnelli G, Stanghellini V, Barbara G, Pasquinelli G, Di Nardo G, Cremon C, Cogliandro RF, Salvioli B, Gori A, Cuomo R, Corinaldesi R, De Giorgio R (2005) Reduced Bcl-2 expression and increased myenteric neuron apoptosis in patients with idiopathic enteric neuropathy. Gastroenterology 128:A23 (Abstract)
Smith B (1967) Myenteric plexus in Hirschsprung’s disease. Gut 8:308–312
Song TJ, Seo DW, Kim SH, Do Park H, Lee SS, Lee SK, Kim MH (2012) The performance of multiple transgastric procedures using the natural orifice transluminal endoscopic surgery technique: is pure notes satisfactory? Gut Liver 6:457–463
Stanghellini V, Cogliandro RF, De Giorgio R, Barbara G, Morselli-Labate AM, Cogliandro L, Corinaldesi R (2005) Natural history of chronic idiopathic intestinal pseudo-obstruction in adults: a single center study. Clin Gastroenterol Hepatol 3:449–458
Swenson O, Bill AH Jr (1948) Resection of rectum and rectosigmoid with preservation of the sphincter for benign spastic lesions producing megacolon. Surgery 24:212–220
Thompson WG, Longstreth GF, Drossman DA, Heaton KW, Irvine EJ, Müller-Lissner SA (1999) Functional bowel disorders and functional abdominal pain. Gut 45(Suppl 2):43–47
Vanderwinden JM, De Laet MH, Schiffmann SN, Mailleux P, Lowenstein CJ, Snyder SH, Vanderhaeghen JJ (1993) Nitric oxide synthase distribution in the enteric nervous system of Hirschsprung’s disease. Gastroenterology 105:969–973
Wedel T, Spiegler J, Soellner S, Roblick UJ, Schiedeck TH, Bruch HP, Krammer HJ (2002) Enteric nerves and interstitial cells of Cajal are altered in patients with slow-transit constipation and megacolon. Gastroenterology 123:1459–1467
Whitehouse FR, Kernohan JW (1948) Myenteric plexus in congenital megacolon; study of 11 cases. Arch Intern Med 82:75–111
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De Giorgio, R., Bianco, F., Latorre, R., Caio, G., Clavenzani, P., Bonora, E. (2016). Enteric neuropathies: Yesterday, Today and Tomorrow. In: Brierley, S., Costa, M. (eds) The Enteric Nervous System. Advances in Experimental Medicine and Biology(), vol 891. Springer, Cham. https://doi.org/10.1007/978-3-319-27592-5_12
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