Pathogenesis of achalasia cardia

World Journal of Gastroenterology

Volumn 18, Issue 24, 2012, Pages 3050-3057

  Ghoshal, Uday C ^a   Daschakraborty, Sunil B ^a   Singh, Renu ^a  

^a SANJAY GANDHI POSTGRADUATE INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Esophageal sphincter; Esophagus; Motility disorder; Motor dysphagia; Peristalsis

Indexed keywords

AUTOANTIBODY; HLA ANTIGEN; INTERLEUKIN 23 RECEPTOR; NITRIC OXIDE SYNTHASE; NON RECEPTOR PROTEIN TYROSINE PHOSPHATASE 22; VASOACTIVE INTESTINAL POLYPEPTIDE RECEPTOR 1;

ARTICLE; AUTOIMMUNITY; CHAGAS DISEASE; DNA POLYMORPHISM; ENZYME POLYMORPHISM; EPSTEIN BARR VIRUS INFECTION; ESOPHAGUS ACHALASIA; GASTROESOPHAGEAL REFLUX; HEREDITY; HERPES SIMPLEX; HERPES ZOSTER; HUMAN; LOWER ESOPHAGUS SPHINCTER; MEASLES; NONHUMAN; PAPILLOMAVIRUS INFECTION; PATHOGENESIS; PATHOPHYSIOLOGY;

EID: 84863917508     PISSN: 10079327     EISSN: 22192840     Source Type: Journal    
DOI: 10.3748/wjg.v18.i24.3050     Document Type: Article

References (84)

1. Ghoshal UC, Kumar S, Saraswat VA, Aggarwal R, Misra A, Choudhuri G. Long-term follow-up after pneumatic dilation for achalasia cardia: factors associated with treatment failure and recurrence. Am J Gastroenterol 2004; 99: 2304-2310.
2. Francis DL, Katzka DA. Achalasia: update on the disease and its treatment. Gastroenterology 2010; 139: 369-374.
3. Willis T. Pharmaceutice rationalis sive diatribe de medi-camentorum operationibus in humano corpore. London: Hagae Comitis, 1674.
4. Hurst AF. The treatment of achalasia of the cardia: so-called 'cardiospasm'. Lancet 1927; 209: 618-619.
5. Rake AT. Achalasia and Degeneration of Auerbach's Plexus. Proc R Soc Med 1928; 21: 1775-1777.
6. Crist J, Gidda JS, Goyal RK. Intramural mechanism of esophageal peristalsis: roles of cholinergic and noncholinergic nerves. Proc Natl Acad Sci USA 1984; 81: 3595-3599.
7. Goyal RK, Chaudhury A. Physiology of normal esophageal motility. J Clin Gastroenterol 2008; 42: 610-619.
8. Park W, Vaezi MF. Etiology and pathogenesis of achalasia: the current understanding. Am J Gastroenterol 2005; 100: 1404-1414.
9. Meshkinpour H, Haghighat P, Dutton C. Clinical spectrum of esophageal aperistalsis in the elderly. Am J Gastroenterol 1994; 89: 1480-1483.
10. Misiewicz JJ, Waller SL, Anthony PP, Gummer JW. Achalasia of the cardia: pharmacology and histopathology of isolated cardiac sphincteric muscle from patients with and without achalasia. Q J Med 1969; 38: 17-30.
11. Paterson WG. Esophageal and lower esophageal sphincter response to balloon distention in patients with achalasia. Dig Dis Sci 1997; 42: 106-112.
12. Holloway RH, Wyman JB, Dent J. Failure of transient lower oesophageal sphincter relaxation in response to gastric distension in patients with achalasia: evidence for neural mediation of transient lower oesophageal sphincter relaxations. Gut 1989; 30: 762-767.
13. Cassella RR, Brown AL, Sayre GP, Ellis FH. Achalasia of the esophagus: pathologic and etiologic considerations. Ann Surg 1964; 160: 474-487.
14. Kravitz JJ, Snape WJ, Cohen S. Effect of thoracic vagotomy and vagal stimulation on esophageal function. Am J Physiol 1978; 234: E359-E364.
15. Khajanchee YS, VanAndel R, Jobe BA, Barra MJ, Hansen PD, Swanstrom LL. Electrical stimulation of the vagus nerve restores motility in an animal model of achalasia. J Gastrointest Surg 2003; 7: 843-849; discussion 849.
16. Qualman SJ, Haupt HM, Yang P, Hamilton SR. Esophageal Lewy bodies associated with ganglion cell loss in achalasia. Similarity to Parkinson's disease. Gastroenterology 1984; 87: 848-856.
17. Eckardt VF, Krause J, Bolle D. Gastrointestinal transit and gastric acid secretion in patients with achalasia. Dig Dis Sci 1989; 34: 665-671.
18. Atkinson M, Ogilvie AL, Robertson CS, Smart HL. Vagal function in achalasia of the cardia. Q J Med 1987; 63: 297-303.
19. Chakder S, Rosenthal GJ, Rattan S. In vivo and in vitro influence of human recombinant hemoglobin on esophageal function. Am J Physiol 1995; 268: G443-G450.
20. Murray JA, Ledlow A, Launspach J, Evans D, Loveday M, Conklin JL. The effects of recombinant human hemoglobin on esophageal motor functions in humans. Gastroenterology 1995; 109: 1241-1248.
21. Sivarao DV, Mashimo HL, Thatte HS, Goyal RK. Lower esophageal sphincter is achalasic in nNOS(-/-) and hypotensive in W/W(v) mutant mice. Gastroenterology 2001; 121: 34-42.
22. Jones DB, Mayberry JF, Rhodes J, Munro J. Preliminary report of an association between measles virus and achalasia. J Clin Pathol 1983; 36: 655-657.
23. Robertson CS, Martin BA, Atkinson M. Varicella-zoster virus DNA in the oesophageal myenteric plexus in achalasia. Gut 1993; 34: 299-302.
24. Paliwal M, Prasanna KS, Saraswat VA, Misra A, Krishnani N, Ghoshal UC. Varicella zoster cranial polyneuropathy presenting with Dysphagia, esophagitis and gastroparesis. J Neurogastroenterol Motil 2011; 17: 192-194.
25. Niwamoto H, Okamoto E, Fujimoto J, Takeuchi M, Furuyama J, Yamamoto Y. Are human herpes viruses or measles virus associated with esophageal achalasia? Dig Dis Sci 1995; 40: 859-864.
26. Birgisson S, Galinski MS, Goldblum JR, Rice TW, Richter JE. Achalasia is not associated with measles or known herpes and human papilloma viruses. Dig Dis Sci 1997; 42: 300-306.
27. Facco M, Brun P, Baesso I, Costantini M, Rizzetto C, Berto A, Baldan N, Palù G, Semenzato G, Castagliuolo I, Zaninotto G. T cells in the myenteric plexus of achalasia patients show a skewed TCR repertoire and react to HSV-1 antigens. Am J Gastroenterol 2008; 103: 1598-1609.
28. de Oliveira RB, Rezende Filho J, Dantas RO, Iazigi N. The spectrum of esophageal motor disorders in Chagas' disease. Am J Gastroenterol 1995; 90: 1119-1124.
29. Goldblum JR, Rice TW, Richter JE. Histopathologic features in esophagomyotomy specimens from patients with achalasia. Gastroenterology 1996; 111: 648-654.
30. Raymond L, Lach B, Shamji FM. Inflammatory aetiology of primary oesophageal achalasia: an immunohistochemical and ultrastructural study of Auerbach's plexus. Histopathology 1999; 35: 445-453.
31. Akiho H, Ihara E, Motomura Y, Nakamura K. Cytokineinduced alterations of gastrointestinal motility in gastrointestinal disorders. World J Gastrointest Pathophysiol 2011; 2: 72-81.
32. Storch WB, Eckardt VF, Wienbeck M, Eberl T, Auer PG, Hecker A, Junginger T, Bosseckert H. Autoantibodies to Auerbach's plexus in achalasia. Cell Mol Biol (Noisy-le-grand) 1995; 41: 1033-1038.
33. Verne GN, Sallustio JE, Eaker EY. Anti-myenteric neuronal antibodies in patients with achalasia. A prospective study. Dig Dis Sci 1997; 42: 307-313.
34. Ruiz-de-León A, Mendoza J, Sevilla-Mantilla C, FernándezAM, Pérez-de-la-Serna J, Gónzalez VA, Rey E, Figueredo A, Díaz-Rubio M, De-la-Concha EG. Myenteric antiplexus antibodies and class II HLA in achalasia. Dig Dis Sci 2002; 47: 15-19.
35. Goin JC, Sterin-Borda L, Bilder CR, Varrica LM, Iantorno G, Ríos MC, Borda E. Functional implications of circulating muscarinic cholinergic receptor autoantibodies in chagasic patients with achalasia. Gastroenterology 1999; 117: 798-805.
36. Moses PL, Ellis LM, Anees MR, Ho W, Rothstein RI, Meddings JB, Sharkey KA, Mawe GM. Antineuronal antibodies in idiopathic achalasia and gastro-oesophageal reflux disease. Gut 2003; 52: 629-636.
37. Wong RK, Maydonovitch CL, Metz SJ, Baker JR. Significant DQw1 association in achalasia. Dig Dis Sci 1989; 34: 349-352.
38. de la Concha EG, Fernandez-Arquero M, Mendoza JL, Conejero L, Figueredo MA, Perez de la Serna J, Diaz-Rubio M, Ruiz de Leon A. Contribution of HLA class II genes to susceptibility in achalasia. Tissue Antigens 1998; 52: 381-384.
39. Verne GN, Hahn AB, Pineau BC, Hoffman BJ, Wojciechowski BW, Wu WC. Association of HLA-DR and -DQ alleles with idiopathic achalasia. Gastroenterology 1999; 117: 26-31.
40. Latiano A, De Giorgio R, Volta U, Palmieri O, Zagaria C, Stanghellini V, Barbara G, Mangia A, Andriulli A, Corinaldesi R, Annese V. HLA and enteric antineuronal antibodies in patients with achalasia. Neurogastroenterol Motil 2006; 18: 520-525.
41. Rose NR, Bona C. Defining criteria for autoimmune diseases (Witebsky's postulates revisited) Immunol Today 1993; 14: 426-430.
42. Stein DT, Knauer CM. Achalasia in monozygotic twins. Dig Dis Sci 1982; 27: 636-640.
43. Chulia Orti F, Tuset Ruiz JA, Tome Toyosato A, Medina Chulia E, González Muñoz C. [Achalasia of the cardia in 2 brothers, not twins]. Rev Esp Enferm Apar Dig 1982; 61: 248-253.
44. Stoddard CJ, Johnson AG. Achalasia in siblings. Br J Surg 1982; 69: 84-85.
45. Tryhus MR, Davis M, Griffith JK, Ablin DS, Gogel HK. Familial achalasia in two siblings: significance of possible hereditary role. J Pediatr Surg 1989; 24: 292-295.
46. Frieling T, Berges W, Borchard F, Lübke HJ, Enck P, Wienbeck M. Family occurrence of achalasia and diffuse spasm of the oesophagus. Gut 1988; 29: 1595-1602.
47. Jung KW, Yoon IJ, Kim do H, Chung JW, Choi KS, Choi KD, Song HJ, Lee GH, Myung SJ, Kim JH, Maskey D, Kim MJ, Jung HY. Genetic evaluation of ALADIN gene in early-onset achalasia and alacrima patients. J Neurogastroenterol Motil 2011; 17: 169-173.
48. Di Nardo G, Tullio-Pelet A, Annese V, Stanghellini V, Barbara G, Latiano A, Andriulli A, Cremon C, Salvioli B, Volta U, Corinaldesi R, Lyonnet S, De Giorgio R. Idiopathic achalasia is not allelic to alacrima achalasia adrenal insufficiency syndrome at the ALADIN locus. Dig Liver Dis 2005; 37: 312-315.
49. Johnston BT, Colcher A, Li Q, Gideon RM, Castell JA, Castell DO. Repetitive proximal esophageal contractions: a new manometric finding and a possible further link between Parkinson's disease and achalasia. Dysphagia 2001; 16: 186-189.
50. Zárate N, Mearin F, Gil-Vernet JM, Camarasa F, Malagelada JR. Achalasia and Down's syndrome: coincidental association or something else? Am J Gastroenterol 1999; 94: 1674-1677.
51. Gockel HR, Gockel I, Schimanski CC, Schier F, Schumacher J, Nöthen MM, Lang H, Müller M, Eckardt AJ, Eckardt VF. Etiopathological aspects of achalasia: lessons learned with Hirschsprung's disease. Dis Esophagus 2011; Epub ahead of print.
52. Mearin F, Mourelle M, Guarner F, Salas A, Riveros-Moreno V, Moncada S, Malagelada JR. Patients with achalasia lack nitric oxide synthase in the gastro-oesophageal junction. Eur J Clin Invest 1993; 23: 724-728.
53. De Giorgio R, Di Simone MP, Stanghellini V, Barbara G, Tonini M, Salvioli B, Mattioli S, Corinaldesi R. Esophageal and gastric nitric oxide synthesizing innervation in primary achalasia. Am J Gastroenterol 1999; 94: 2357-2362.
54. Vigo AG, Martínez A, de la Concha EG, Urcelay E, Ruiz de León A. Suggested association of NOS2A polymorphism in idiopathic achalasia: no evidence in a large case-control study. Am J Gastroenterol 2009; 104: 1326-1327.
55. Mearin F, García-González MA, Strunk M, Zárate N, Malagelada JR, Lanas A. Association between achalasia and nitric oxide synthase gene polymorphisms. Am J Gastroenterol 2006; 101: 1979-1984.
56. Sreedharan SP, Huang JX, Cheung MC, Goetzl EJ. Structure, expression, and chromosomal localization of the type I human vasoactive intestinal peptide receptor gene. Proc Natl Acad Sci USA 1995; 92: 2939-2943.
57. Pozo D, Delgado M. The many faces of VIP in neuroimmunology: a cytokine rather a neuropeptide? FASEB J 2004; 18: 1325-1334.
58. Gonzalez-Rey E, Chorny A, Fernandez-Martin A, Ganea D, Delgado M. Vasoactive intestinal peptide generates human tolerogenic dendritic cells that induce CD4 and CD8 regulatory T cells. Blood 2006; 107: 3632-3638.
59. Parkman HP, Pagano AP, Ryan JP. PACAP and VIP inhibit pyloric muscle through VIP/PACAP-preferring receptors. Regul Pept 1997; 71: 185-190.
60. Voice JK, Dorsam G, Chan RC, Grinninger C, Kong Y, Goetzl EJ. Immunoeffector and immunoregulatory activities of vasoactive intestinal peptide. Regul Pept 2002; 109: 199-208.
61. Gonzalez-Rey E, Fernandez-Martin A, Chorny A, Delgado M. Vasoactive intestinal peptide induces CD4+,CD25+ T regulatory cells with therapeutic effect in collagen-induced arthritis. Arthritis Rheum 2006; 54: 864-876.
62. Delgado M, Robledo G, Rueda B, Varela N, O'Valle F, Hernandez-Cortes P, Caro M, Orozco G, Gonzalez-Rey E, Martin J. Genetic association of vasoactive intestinal peptide receptor with rheumatoid arthritis: altered expression and signal in immune cells. Arthritis Rheum 2008; 58: 1010-1019.
63. Juarranz Y, Gutiérrez-Cañas I, Santiago B, Carrión M, Pablos JL, Gomariz RP. Differential expression of vasoactive intestinal peptide and its functional receptors in human osteoarthritic and rheumatoid synovial fibroblasts. Arthritis Rheum 2008; 58: 1086-1095.
64. Paladini F, Cocco E, Cauli A, Cascino I, Vacca A, Belfiore F, Fiorillo MT, Mathieu A, Sorrentino R. A functional polymorphism of the vasoactive intestinal peptide receptor 1 gene correlates with the presence of HLA-B*2705 in Sardinia. Genes Immun 2008; 9: 659-667.
65. Paladini F, Cocco E, Cascino I, Belfiore F, Badiali D, Piretta L, Alghisi F, Anzini F, Fiorillo MT, Corazziari E, Sorrentino R. Age-dependent association of idiopathic achalasia with vasoactive intestinal peptide receptor 1 gene. Neurogastroenterol Motil 2009; 21: 597-602.
66. Lankford CS, Frucht DM. A unique role for IL-23 in promoting cellular immunity. J Leukoc Biol 2003; 73: 49-56.
67. Bettelli E, Carrier Y, Gao W, Korn T, Strom TB, Oukka M, Weiner HL, Kuchroo VK. Reciprocal developmental pathways for the generation of pathogenic effector TH17 and regulatory T cells. Nature 2006; 441: 235-238.
68. McKenzie BS, Kastelein RA, Cua DJ. Understanding the IL23-IL-17 immune pathway. Trends Immunol 2006; 27: 17-23.
69. Hollis-Moffatt JE, Merriman ME, Rodger RA, Rowley KA, Chapman PT, Dalbeth N, Gow PJ, Harrison AA, Highton J, Jones PB, O'Donnell JL, Stamp LK, Merriman TR. Evidence for association of an interleukin 23 receptor variant independent of the R381Q variant with rheumatoid arthritis. Ann Rheum Dis 2009; 68: 1340-1344.
70. Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, Steinhart AH, Abraham C, Regueiro M, Griffiths A, Dassopoulos T, Bitton A, Yang H, Targan S, Datta LW, Kistner EO, Schumm LP, Lee AT, Gregersen PK, Barmada MM, Rotter JI, Nicolae DL, Cho JH. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 2006; 314: 1461-1463.
71. Cargill M, Schrodi SJ, Chang M, Garcia VE, Brandon R, Callis KP, Matsunami N, Ardlie KG, Civello D, Catanese JJ, Leong DU, Panko JM, McAllister LB, Hansen CB, Papenfuss J, Prescott SM, White TJ, Leppert MF, Krueger GG, Begovich AB. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet 2007; 80: 273-290.
72. Einarsdottir E, Koskinen LL, Dukes E, Kainu K, Suomela S, Lappalainen M, Ziberna F, Korponay-Szabo IR, Kurppa K, Kaukinen K, Adány R, Pocsai Z, Széles G, Färkkilä M, Turunen U, Halme L, Paavola-Sakki P, Not T, Vatta S, Ventura A, Löfberg R, Torkvist L, Bresso F, Halfvarson J, Mäki M, Kontula K, Saarialho-Kere U, Kere J, D'Amato M, Saavalainen P. IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease. BMC Med Genet 2009; 10: 8.
73. Filer C, Ho P, Smith RL, Griffiths C, Young HS, Worthington J, Bruce IN, Barton A. Investigation of association of the IL12B and IL23R genes with psoriatic arthritis. Arthritis Rheum 2008; 58: 3705-3709.
74. Núñez C, Dema B, Cénit MC, Polanco I, Maluenda C, Arroyo R, de las Heras V, Bartolomé M, de la Concha EG, Urcelay E, Martínez A. IL23R: a susceptibility locus for celiac disease and multiple sclerosis? Genes Immun 2008; 9: 289-293.
75. de León AR, de la Serna JP, Santiago JL, Sevilla C, Fernández-Arquero M, de la Concha EG, Nuñez C, Urcelay E, Vigo AG. Association between idiopathic achalasia and IL23R gene. Neurogastroenterol Motil 2010; 22: 734-738, e218.
76. Gaffney PM, Kearns GM, Shark KB, Ortmann WA, Selby SA, Malmgren ML, Rohlf KE, Ockenden TC, Messner RP, King RA, Rich SS, Behrens TW. A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. Proc Natl Acad Sci USA 1998; 95: 14875-14879.
77. Jawaheer D, Seldin MF, Amos CI, Chen WV, Shigeta R, Etzel C, Damle A, Xiao X, Chen D, Lum RF, Monteiro J, Kern M, Criswell LA, Albani S, Nelson JL, Clegg DO, Pope R, Schroeder HW, Bridges SL, Pisetsky DS, Ward R, Kastner DL, Wilder RL, Pincus T, Callahan LF, Flemming D, Wener MH, Gregersen PK. Screening the genome for rheumatoid arthritis susceptibility genes: a replication study and combined analysis of 512 multicase families. Arthritis Rheum 2003; 48: 906-916.
78. Vang T, Congia M, Macis MD, Musumeci L, Orrú V, Zavattari P, Nika K, Tautz L, Taskén K, Cucca F, Mustelin T, Bottini N. Autoimmune-associated lymphoid tyrosine phosphatase is a gain-of-function variant. Nat Genet 2005; 37: 1317-1319.
79. Gregersen PK, Lee HS, Batliwalla F, Begovich AB. PTPN22: setting thresholds for autoimmunity. Semin Immunol 2006; 18: 214-223.
80. Begovich AB, Carlton VE, Honigberg LA, Schrodi SJ, Chokkalingam AP, Alexander HC, Ardlie KG, Huang Q, Smith AM, Spoerke JM, Conn MT, Chang M, Chang SY, Saiki RK, Catanese JJ, Leong DU, Garcia VE, McAllister LB, Jeffery DA, Lee AT, Batliwalla F, Remmers E, Criswell LA, Seldin MF, Kastner DL, Amos CI, Sninsky JJ, Gregersen PK. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 2004; 75: 330-337.
81. Carlton VE, Hu X, Chokkalingam AP, Schrodi SJ, Brandon R, Alexander HC, Chang M, Catanese JJ, Leong DU, Ardlie KG, Kastner DL, Seldin MF, Criswell LA, Gregersen PK, Beasley E, Thomson G, Amos CI, Begovich AB. PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis. Am J Hum Genet 2005; 77: 567-581.
82. Orozco G, Sánchez E, González-Gay MA, López-Nevot MA, Torres B, Cáliz R, Ortego-Centeno N, Jiménez-Alonso J, Pascual-Salcedo D, Balsa A, de Pablo R, Nuñez-Roldan A, González-Escribano MF, Martín J. Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum 2005; 52: 219-224.
83. van Oene M, Wintle RF, Liu X, Yazdanpanah M, Gu X, Newman B, Kwan A, Johnson B, Owen J, Greer W, Mosher D, Maksymowych W, Keystone E, Rubin LA, Amos CI, Siminovitch KA. Association of the lymphoid tyrosine phosphatase R620W variant with rheumatoid arthritis, but not Crohn's disease, in Canadian populations. Arthritis Rheum 2005; 52: 1993-1998.
84. Santiago JL, Martínez A, Benito MS, Ruiz de León A, Mendoza JL, Fernández-Arquero M, Figueredo MA, de la Concha EG, Urcelay E. Gender-specific association of the PTPN22 C1858T polymorphism with achalasia. Hum Immunol 2007; 68: 867-870.