Abstract
Meconium ileus (MI) is an intestinal obstruction caused by thickened meconium, strictly linked to cystic fibrosis (CF) and often representing its first manifestation. Meconium ileus can be either simple (intraluminal occlusion by stick meconium) or complex, with volvulus, atresia, necrosis, perforation, meconium peritonitis, and pseudocyst formation. Since its first description in the nineteenth century, progress was made in the understanding of the genetic origins of this disorder, leading to the identification of the CFTR gene and its over 1900 pathogenetic mutations. The diagnostic workup has seen the evolution of prenatal and postnatal imaging and laboratory studies improving the ability to early detect MI and CF and to differentiate MI from other causes of neonatal intestinal occlusion. Finally, the development of several treatment options, both surgical and nonsurgical, gives the surgeon the opportunity to tailor the therapeutic strategy to the clinical presentation of each single patient. This chapter on MI will review the current knowledge about its pathogenesis, describe the diagnostic and therapeutic approaches to the fetus and newborn baby with this disorder, and illustrate the outcomes of such patients that may aid the pediatric surgeon in caring for these patients.
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References
American College of Obstetrics and Gynecology Committee on Genetics. ACOG Committee opinion no. 486: update on carrier screening for cystic fibrosis. Obstet Gynecol. 2011;117(4):1028–31.
Bishop HC, Koop CE. Management of meconium ileus, roux-en-Y anastomosis and ileostomy irrigation with pancreatic enzymes. Ann Surg. 1957;145(3):410–4.
Blackman SM, Deering-Brose R, McWilliams R, et al. Relative contribution of genetic and non genetic modifiers to intestinal obstruction in cystic fibrosis. Gastroenterology. 2006;131(4):1030–9.
Bobadilla JL, Macek Jr M, Fine JP, et al. Cystic fibrosis: a worldwide analysis of CFTR mutations – correlation with incidence data and application to screening. Hum Mutat. 2002;19(6):575–606.
Borowitz D, Robinson KA, Rosenfeld M, et al. Cystic fibrosis foundation evidence-based guidelines for management of infants with cystic fibrosis. J Pediatr. 2009;155(6 Suppl):S73–93.
Burge D, Drewett M. Meconium plug obstruction. Pediatr Sur Int. 2004;20(2):108–10.
Burke MS, Ragi JM, Hratch L, et al. New strategies in nonoperative management of meconium ileus. J Pediatr Surg. 2002;37(5):760–4.
Carlyle BE, Borowitz DS, Glick PL. A review of pathophysiology and management of fetuses and neonates with meconium ileus for the pediatric surgeon. J Pediatr Surg. 2012;47(4):772–81.
Carroll AG, Kavanagh RG, Ni Leidhin C, Cullinan NM, Lavelle LP, Malone DE. Comparative effectiveness of imaging modalities for the diagnosis of intestinal obstruction in neonates and infants: a critically appraised topic. Acad Radiol. 2016;23(5):559–68.
Casaccia G, Trucchi A, Nahom A, et al. The impact of cystic fibrosis on neonatal intestinal obstruction: the need for prenatal/neonatal screening. Pediatr Surg Int. 2003;19(1–2):75–8.
Cohen-Cymberknoh M, Shoseyov D, Kerem E. Managing cystic fibrosis. Strategies that increase life expectancy and improve quality of life. Am J Respir Crit Care Med. 2011;183(11):1463–71.
Colombo C, Ellemunter H, Houwen R, et al. Guidelines for the diagnosis and management of distal intestinal obstruction syndrome in cystic fibrosis patients. J Cyst Fibros. 2011;10(Suppl 2):S24–8.
Copeland DR, St. Peter SD, Sharp SW. Diminishing role of contrast enema in simple meconium ileus. J Pediatr Surg. 2009;44(11):2130–2.
Culling B, Ogle R. Genetic counselling issues in cystic fibrosis. Pediatr Respir Rev. 2010;11(2):75–9.
Cystic Fibrosis Foundation. Patients registry report 2011. 2011. http://www.cff.org/LivingWithCF/QualityImprovement/PatientRegistryReport
Cystic fibrosis mutation database statistics. Toronto: Cystic Fibrosis Centre at the Hospital for Sick Children in Toronto [cited 2012 Jan 6]. 2012. http://www.genet.sickkids.on.ca/StatisticsPage.html
Davenport M. Cystic fibrosis: surgical consideration. In: Stringer M, editor. Pediatric surgery and urology: long term outcomes. 1st ed. London: W.B. Saunders Company LTD; 1998.
De Lisle RC, Borowitz D. The cystic fibrosis intestine. Cold Spring Harb Perspect Med. 2013;3(9):a009753.
Del Pin CA, Czyrko C, Ziegler MM, et al. Management and survival of meconium ileus: a 30-year review. Ann Surg. 1992;215(2):179–85.
Dodge JA, Lewis PA, Stanton M, et al. Cystic fibrosis mortality and survival in the UK: 1947–2003. Eur Respir J. 2007;29(3):522–6.
Ein SH, Shandling B, Reilly BJ, et al. Bowel perforation with nonoperative treatment of meconium ileus. J Pediatr Surg. 1987;22(2):146–7.
Escobar MA, Grosfeld JL, Burdick JJ, et al. Surgical considerations in cystic fibrosis: a 32-year evaluation of outcomes. Surgery. 2005;138(4):560–71.
Farrell PM, Rosenstein BJ, White TB, et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: Cystic Fibrosis Foundation consensus report. J Pediatr. 2008;153(2):S4–14.
Fitzgerald R, Conlon K. Use of the appendix stump in the treatment of meconium ileus. J Pediatr Surg. 1989;24(9):899–900.
Garcia MAS, Yang N, Quinton PM. Normal mouse intestinal mucus release requires cystic fibrosis transmembrane regulator-dependent bicarbonate secretion. J Clin Invest. 2009;119(9):2613–22.
George PM, Banya W, Pareek N, et al. Improved survival at low lung function in cystic fibrosis: cohort study from 1990 to 2007. BMJ. 2011;342:d1008.
Gorter RR, Karimi A, Sleeboom C, et al. Clinical and genetic characteristics of meconium ileus in newborn with and without cystic fibrosis. J Pediatr Gastroenterol Nutr. 2010;50(5):569–72.
Gross RE. Intestinal obstruction in the newborn resulting from meconium ileus. In: Gross RE, Ladd WE, editors. The surgery of infancy and childhood: its principles and techniques. Philadelphia: WB Saunders; 1953.
Hodson ME, Geddes DM, Bush A. Cystic fibrosis. 3rd ed. Boca Raton: CRC Press; 2007.
Hyatt RB, Wilson PE. Celiac syndrome: therapy of meconium ileus: report of eight cases with review of the literature. Surg Gynecol Obstet. 1948;87(3):317–27.
Jawaheer J, Khalil B, Plummer T, et al. Primary resection and anastomosis for complicated meconium ileus: a safe procedure? Pediatr Surg Int. 2007;23(11):1091–3.
Karimi A, Gorter RR, Sleeboom C, et al. Issues in the management of simple and complex meconium ileus. Pediatr Surg Int. 2011;27(9):963–8.
Kenny SE, Connell G, Woodward MN, et al. Ontogeny of interstitial cells of Cajal in the human intestine. J Pediatr Surg. 1999;34(8):1241–7.
Kerem E, Corey M, Kerem B, et al. Clinical and genetic comparisons of patients with cystic fibrosis, with or without meconium ileus. J Pediatr. 1989a;114(5):767–73.
Kerem B, Rommens JM, Buchana JA, et al. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989b;245(4922):1073–80.
Kim HY, Kim SH, Cho YH, Byun SY, Han YM, Kim AY. Meconium-related ileus in very low birth weight and extremely low birth weight infants: immediate and one-year postoperative outcomes. Ann Surg Treat Res. 2015;89(3):151–7.
Kreda SM, Davis CW, Rose MC. CFTR, mucins, and mucus obstruction in cystic fibrosis. Cold Spring Harb Perspect Med. 2012;2(9):a009589.
Mattei P. Meconiumileus. In: Mattei P, editor. Fundamentals of pediatric surgery. New York: Springer; 2011.
Meeker IA. Acetylcysteine used to liquefy inspissated meconium causing intestinal obstruction in the newborn. Surgery. 1964;56:419–25.
Munck A, Gerardin M, Alberti C, et al. Clinical outcome of cystic fibrosis presenting with or without meconium ileus: a matched cohort study. J Pediatr Surg. 2006;41(9):1556–60.
Mychaliska GB. Introduction to neonatal intestinal obstruction. In: Oldham KT, editor. Principles and practice of pediatric surgery. 1st ed. Philadelphya: Lippincott Williams and Wilkins; 2005.
Noblett HR. Treatment of uncomplicated meconium ileus by Gastrografin enema: a preliminary report. J Pediatr Surg. 1969;4(2):190–7.
O’Neill Jr JA, Grosfeld JL, Boles Jr ET, et al. Surgical treatment of meconium ileus. Am J Surg. 1970;119(1):99–105.
Quinton PM. Cystic fibrosis: impaired bicarbonate secretion and mucoviscidosis. Lancet. 2008;372(9636):415–7.
Regev RH, Markovich O, Arnon S, et al. Meconium periorchitis: intrauterine diagnosis and neonatal outcome: case reports and review of the literature. J Perinatol. 2009;29(8):585–7.
Rickham PP, Boeckman CR. Neonatal meconium obstruction in the absence of mucoviscidosis. Am J Surg. 1965;109:173–7.
Rowe MI, Furst AJ, Altman DH, et al. The neonatal response to Gastrografin enema. Pediatrics. 1971;48(1):29–35.
Rozmahel R, Wilschansky M, Matin A, et al. Modulation of disease severity in cystic fibrosis transmembrane conductance regulator deficient mice by a secondary genetic factor. Nat Genet. 1996;12(3):280–7.
Santulli TV, Blanc WA. Congenital atresia of the intestine: pathogenesis and treatment. Ann Surg. 1961;154:939–48.
Scodet V, De Braekeleer M, Audrezet MP, et al. Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346000 pregnancies. J Med Genet. 2002;39(6):443–8.
Shaw A. Safety of N-acetylcysteine in treatment of meconium obstruction of the newborn. J Pediatr Surg. 1969;4(1):119–25.
Stoltz DA, Rokhlina T, Ernst SE, et al. Intestinal CFTR expression alleviates meconium ileus in cystic fibrosis pigs. J Clin Invest. 2013;123(6):2685–93.
Swenson O. Pediatric surgery. 2nd ed. East Norwalk: Appleton & Lange; 1962.
Teitelbaum DH, Coran AG. Obturation obstruction of the intestine. In: O’Neill Jr JA, Grosfeld JL, Fonkalsrud EW, Coran AG, Caldamone AA, editors. Principles of pediatric surgery. 2nd ed. St. Louis: Mosby; 2004.
Van der Doef HP, Slieker MG, Staab D, et al. Association of the CLCA1 p.S357N variant with meconium ileus in European patients with cystic fibrosis. J Pediatr Gastroenterol Nutr. 2010;50(3):347–9.
Welsh MJ. Cystic fibrosis. In: Scriver CR, editor. The metabolic and molecular basis of inherited diseases. 7th ed. New York: McGraw-Hill; 1995.
Ziegler MM. Meconium Ileus. In: Grosfeld JL, editor. Pediatric surgery. 6th ed. Philadelphia: Mosby Elsevier; 2006.
Zielenski J, Corey M, Rozmahel R, et al. Detection of a cystic fibrosis modifier locus for meconium ileus on human chromosome 19q13. Nat Genet. 1999;22(2):128–9.
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Bagolan, P., Morini, F., Conforti, A. (2017). Meconium Ileus. In: Puri, P. (eds) Pediatric Surgery. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-38482-0_71-1
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DOI: https://doi.org/10.1007/978-3-642-38482-0_71-1
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