ETIOLOGY AND PATHOPHYSIOLOGY OF CHRONIC INTESTINAL SYNDROME OF PSEUDO-OBSTRUCTION IN CHILDREN Part II. Primary and secondary chronic syndrome of pseudo-obstruction in children and adults

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Abstract

Chronic intestinal syndrome of pseudo-obstruction is a rare syndrome manifested through recur-rent phenomena of bowel obstruction developed against neuropathies, myopathies and neuromyo-pathies of congenital or acquired genesis. The article deals with the peculiarities of ethiopathogen-esis of different forms of the disease including de nova mutations revealed within the last decades. The article is interesting both for surgeons who must diagnose intestinal pseudo-obstruction in a timely manner to avoid unnecessary surgeries and for other doctors who can come across the syndrome during their practice.

About the authors

Yu. V. Averyanova

Russian Pediatric Clinical Hospital of the Ministry of Health of the Russian Federation

Author for correspondence.
Email: noemail@neicon.ru
Россия

A. Yu. Razumovsky

State Budgetary Educational Institution of Higher Professional Education Russian National Research Medical University named after N.I. Pirogov of the Ministry of Health of the RF

Email: 1595105@mail.ru
Россия

A. E. Stepanov

Russian Pediatric Clinical Hospital of the Ministry of Health of the Russian Federation

Email: operacia@rdkb.ru
Россия

References

  1. Dudley H.A., Sinclair I.S., McLaren I.F. et al. Intestinal pseudo-obstruction // J. Royal. Coll. Surg. Edinb. 1958. Vol. 3. P. 206-217.
  2. Muñoz-Yagüe M.T., Solís-Muñoz P., Salces I. et al. Chronic intestinal pseudo-obstruction: a diagnosis to be considered // Rev. Esp. Enferm. Dig. 2009. May. Vol. 101. No. 5. P. 336-342.
  3. Muñoz M.T., Solís Herruzo J.A. Chronic intestinal pseudo-obstruction // Rev. Esp. Enferm. Dig. 2007. Feb. Vol. 99. No. 2. P. 100-111.
  4. Wood J.D. Intrinsic neural control of intestinal motility // Annu. Rev. Physiol. 1981. No. 43. P. 33-51.
  5. Collins S.M. The immunomodulation of enteric neuromuscular function: implications for motility and inflammatory disorders // Gastroenterology. 1996. No. 111. P. 1683-1689.
  6. Čamborova P. The Pacemaker Activity of Interstitial Cells of Cajal and Gastric Electrical Activity // Physiol. Res. 2003. Vol. 52. No. 3. P. 275-284.
  7. Lee H.T., Hennig G.W., Fleming N.W., et al. The Mechanism and Spread of Pacemaker Activity Through Myenteric Interstitial Cells of Cajal in Human Small Intestine // Gastroenterology. 2007. No. 132. P. 1852-1865.
  8. Ward S.M. Interstitial cells of Cajal: primary targets of enteric motor innervation // Anat Rec. 2001. Jan. Vol. 62. No. 1. P. 125-135.
  9. Koh S.D., Rhee. P.L. Ionic Conductance (s) in Response to Post-junctional Potentials // J. Neurogastroenterol Motil. 2013. Oct. Vol. 19. P. 426-432. [Epub. 2013. Oct. 7].
  10. Koga Y., Povalko N., Nishioka J., Katayama K., Yatsuga S., Matsuishi T. Molecular pathology of MELAS and L-arginine effects // Biochim Biophys Acta. 2012. May. Vol. 1820. No. 5. P. 608-614.
  11. Scaglia F. The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options // CNS. Drugs. 2006. Vol. 20. No. 6. P. 443-464.
  12. Bergamin C.S. Unusual occurrence of intestinal pseudo obstruction in a patient with maternally inherited diabetes and deafness (MIDD) and favorable outcome with coenzyme Q10 // Arq. Bras. Endocrinol. Metabol. 2008. Nov. Vol. 52. No. 8. P. 1345-1349.
  13. Nishino I. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations // Ann. Neurol. 2000. Jun. Vol. 47. No. 6. P. 792-800.
  14. Li R., Guan M.X. Human mitochondrial leucyl-tRNA synthetase corrects mitochondrial dysfunctions due to the tRNALeu (UUR) A3243G mutation, associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like symptoms and diabetes // Mol. Cell. Biol. 2010. May. Vol. 30. No. 9. P. 2147-2154.
  15. Park S.B., Ma K.T., Kook K.H. et al. Kearns-Sayre syndrome - 3 case reports and review of clinical feature // Yonsei. Med. J. 2004. No. 45. P. 727-735.
  16. Guillausseau, P.-J., Massin, P., Dubois-LaForgue, D. et al. Maternally inherited diabetes and deafness: a multicenter study // Ann. Intern. Med. 2001. No. 134. P. 721-728.
  17. Annagiusi Gargiulo et al. Filamin A Is Mutated in X-Linked Chronic Idiopathic Intestinal Pseudo-Obstruction with Central Nervous System Involvement // Am. J. Hum. Genet. 2007. Apr. Vol. 80. No. 4. P. 751-758.
  18. Tanner M.S., Smith B., Lloyd J.K. Functional intestinal obstruction due to deficiency of argyrophil neurones in the myenteric plexus: familial syndrome presenting with short small bowel, malrotation, and pyloric hypertrophy // Arch. Dis. Child. 1976. No. 51. P. 837-841.
  19. FitzPatrick D.R., Strain L., Thomas A.E. et al. Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder // J. Med. Genet. 1997. No. 34. P. 666-669.
  20. Deglincerti A.1., De Giorgio R., Cefle K. et al. A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24 // Eur. J. Hum. Genet. 2007. Aug. Vol. 15. No. 8. P. 889-897.
  21. Pini Prato A., Megacystis, megacolon, and malrotation: a new syndromic association? // Am. J. Med. Genet. A. 2011. Aug. Vol. 155A. No. 8. P. 1798-1802.
  22. Lehtonen H.J. Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy // Gastroenterology. 2012. Dec. Vol. 143. No. 6. P. 1482-1491.
  23. Ranum L.P. W., Day J.W. Myotonic dystrophy: RNA pathogenesis comes into focus // Am. J. Hum. Genet. 2004. Vol. 74. P. 793-804.
  24. Leung D.G. Therapeutic advances in muscular dystrophy // Ann. Neurol. 2013. Sep. Vol. 74. No. 3. P. 404-411.
  25. Scheuerbrandt G. Report on a Round Table Conference in Monaco on 17th and 18th January. 2004 // Acta. Myol. 2004. Sep. Vol. 23. No. 2. P. 106-122.
  26. Shannon K.M., Keshavarzian A., Mutlu E. et al. Alpha-synuclein in colonic submucosa in early untreated Parkinson’s disease // Mov. Disord. 2012. May. Vol. 27. No. 6. P. 709-715.
  27. Vernino S., Hopkins S., Wang Z. Autonomic ganglia, acetylcholine receptor antibodies, and autoimmune ganglionopathy. // Auton. Neurosci. 2009. March. Vol. 12. No. 146 (1-2). P. 3-7.
  28. Klein C.M., Vernino S., Lennon V.A., Sandroni P., Fealey R.D., Benrud-Larson L., Sletten D., Low P.A. The spectrum of autoimmune autonomic neuropathies // Ann. Neurol. 2003. Vol. 53. P. 752-758.
  29. Koga M. Acute pandysautonomia and nicotinic acetylcholine receptor antibodies // Brain Nerve. 2013. Apr. Vol. 65. No. 4. P. 425-432.
  30. Lennon V.A., Ermilov L.G., Szurszewski J.H. et al. Immunization with neuronal nicotinic acetylcholine receptor induces neurological autoimmune disease // J. Clin. Invest. 2003. No. 111. P. 907-913.
  31. Honnorat J., Antoine J.C. Paraneoplastic neurological syndromes // Orphanet. J. Rare. Dis. 2007. May. Vol. 4. No. 2. P. 22.
  32. De Giorgio R., Guerrini S., Barbara G. et al. Inflammatory neuropathies of the enteric nervous system // Gastroenterology. 2004. No. 126. P. 1872-1883.
  33. Tada S. et al. Intestinal pseudo-obstruction in patients with amyloidosis: clinicopathologic differences between chemical types of amyloid protein // Gut. 1993. Vol. 34. P. 1412-1417.
  34. Wald A., Kichler J., Mendelow H. Amyloidosis and chronic intestinal pseudoobstruction // Dig. Dis. Sci. 1981. Vol. 26. P. 462-465.
  35. Khairullah S. Chronic intestinal pseudo-obstruction: a rare first manifestation of systemic lupus erythematosus // Lupus. 2013. Aug. Vol. 22. No. 9. P. 957-960.
  36. Alexopoulou A. Intestinal pseudo-obstruction and ureterohydronephrosis as the presenting manifestations of relapse in a lupus patient // Lupus. 2004. Vol. 13. No. 12. P. 954-956.
  37. Pardos-Gea J. Chronic intestinal pseudo-obstruction associated with biliary tract dilatation in a patient with systemic lupus erythematosus // Lupus. 2005. Vol. 14. No. 4. P. 328-330.
  38. Park F.D. Generalized megaviscera of lupus: refractory intestinal pseudo-obstruction, ureterohydronephrosis and megacholedochus // World J. Gastroenterol. 2009. Jul. Vol. 15. No. 28. P. 3555-3559.
  39. Hill P.A., Dwyer K.M., Power D.A. Chronic intestinal pseudo-obstruction in systemic lupus erythematosus due to intestinal smooth muscle myopathy // Lupus. 2000. Vol. 9. No. 6. P. 458-463.
  40. Frederick D. Park. Generalized megaviscera of lupus: Refractory intestinal pseudo-obstruction, ureterohydronephrosis and megacholedochus // World J. Gastroenterol. 2009. July. Vol. 15. No. 28. P. 3555-3559.
  41. He C.L. Loss of interstitial cells of cajal and inhibitory innervation in insulin-dependent diabetes // Gastroenterology. 2001. Aug. Vol. 121. No. 2. P. 427-434.
  42. Faussone-Pellegrini M.S. et al. Ultrastructural differences between diabetic and idiopathic gastroparesis // J. Cell. Mol. Med. 2012. Jul. Vol. 16. No. 7. P. 1573-1581.
  43. Pasricha P.J. Changes in the gastric enteric nervous system and muscle: a case report on two patients with diabetic gastroparesis // BMC Gastroenterol. 2008. May. No. 30. P. 8-21.
  44. Grover M. Clinical-histological associations in gastroparesis: results from the Gastroparesis Clinical Research Consortium // Neurogastroenterol. Motil. 2012. Jun. Vol. 24. No. 6. P. 531-539.
  45. Akiho H., Ihara E., Motomura Y., Nakamura K. Cytokine-induced alterations of gastrointestinal motility in gastrointestinal disorders // World J. Gastrointest. Pathophysiol. 2011. Oct. Vol. 15; 2. No. 5. P. 72-81.
  46. Khan W.I. and Collins S.M. Gut motor function: immunological control in enteric infection and inflammation // Clinical and Experimental Immunology. 2005. Vol. 143. P. 389-397.
  47. Wegener J.W., Schulla V., Koller A., Klugbauer N., Feil R. and Hofmann F. Control of intestinal motility by the Ca (v) 1.2 L-type calcium channel in mice // Faseb. J. 2006. No. 20 P. 1260-1262.
  48. Somlyo A.P. and Somlyo A.V. Signal transduction by G-proteins, rho-kinase and protein phosphatase to smooth muscle and non-muscle myosin II // J. Physiol. (Lond.). 2000. No. 522. P. 177-218.
  49. Pfitzer G. Regulation of myosin phosphorylation in smooth muscle // J. Appl. Physiol. 2001. Vol. 91. No. 1. P. 497-503.
  50. Jadcherla S.R. Inflammation inhibits muscarinic signaling in in vivo canine colonic circular smooth muscle cells // Pediatr. Res. 2002. Vol. 52. P. 756-762.
  51. Takashi Ohama. Mechanism of abnormal intestinal motility in inflammatory bowel disease: how smooth muscle contraction is reduced? // J. Smooth Muscle Res. 2007. Vol. 43. No. 2 P. 43-54.
  52. Cabral G.A., Staab A. Effects on the immune system // Handb. Exp. Pharmacol. 2005. Vol. 168. P. 385-423.
  53. Khan W.I. and Collins S.M. Gut motor function: immunological control in enteric infection and inflammation // Clinical and Experimental Immunology. 2005. Vol. 143. P. 389-397.
  54. Antonucci A., Fronzoni L., Cogliandro. L., et al. Chronic intestinal pseudo-obstruction // World J. Gastroenterol. 2008. May. Vol. 14. No. 19. P. 2953-2961.

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