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25 - Cystic fibrosis

from Part IV - Abdomen

Published online by Cambridge University Press:  08 January 2010

By
Mark Davenport  and
Hilary Wyatt
Edited by
Mark D. Stringer ,
Keith T. Oldham  and
Pierre D. E. Mouriquand
Mark Davenport
Affiliation:
King's College Hospital, London, UK
Hilary Wyatt
Affiliation:
King's College Hospital, London, UK
Mark D. Stringer
Affiliation:
University of Otago, New Zealand
Keith T. Oldham
Affiliation:
Children's Hospital of Wisconsin
Pierre D. E. Mouriquand
Affiliation:
Debrousse Hospital, Lyon
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Summary

“Das Kind stirbt bald wieder, dessen Stirne beim Küssen salzig ist”

(The child will die soon, whose forehead tastes salty when kissed)

German children's song

Introduction

Cystic fibrosis (CF) is the most common lethal inherited condition in Caucasians. In the 1960s patients rarely survived their first decade, succumbing to the effects of malnutrition and lung disease. At the end of the 1980s there were approximately 5000 patients with CF within the UK with an estimated 6000 by the year 2000. In practice, in 2002, almost 7000 patients had been registered on the UK Cystic Fibrosis database (personal communication). Similar changes have been observed in North America. Improvements to treatment over the last 40 years have led to a dramatic increase in life expectancy such that the median survival is now around 32 years. Further improvements in survival are expected for babies born in the past decade. The treatment of CF is, however, complex, time-consuming and intrusive to the sufferer's daily life. With advancing age, more complications of CF develop and a number of these require surgical intervention. Discovery of the abnormal gene responsible for CF in 1989 has resulted in a much greater understanding of this multisystem disease, as well as hope of a cure for the major cause of morbidity and mortality, lung disease.

Pathophysiology

CF is an autosomal recessive condition with an incidence of about 1 in 2500 live births in the UK and Canada and 1 in 3400 live births in the USA white population.

Type
Chapter
Information
Pediatric Surgery and Urology
Long-Term Outcomes
 , pp. 315 - 328
Publisher: Cambridge University Press
Print publication year: 2006

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References

BPA working party on cystic fibrosis. Cystic fibrosis in the United Kingdom 1977–85: an improving picture. Br. Med. J. 1988; 297:1599–1602.CrossRef
Conway, S.Cystic fibrosis in teenagers and young adults. Arch. Dis. Child. 1996; 75:99–101.CrossRefGoogle ScholarPubMed
Elborn, J. S., Shale, D. J., & Britton, J. R.Cystic fibrosis: current survival and population estimates to the year 2000. Thorax 1991; 46:881–885.CrossRefGoogle ScholarPubMed
FitzSimmons, S. C.The changing epidemiology of cystic fibrosis. J. Pediatr. 1993; 122:1–9.CrossRefGoogle ScholarPubMed
Fogarty, A., Hubbard, R., & Britton, J.. International comparison of median age at death from cystic fibrosis. Chest 2000; 117:1656–1660.CrossRefGoogle ScholarPubMed
Rommens, J. M., Iannuzzi, M. C., Kerem, B.-S.et al.Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989; 245:1059–1065.CrossRefGoogle ScholarPubMed
http://www.genet.sickkids.on.ca/cgi-bin/WebObjects/ MUTATION)
Schwarz, M. J., Malone, G. M., Haworth, A.et al.Cystic fibrosis mutation analysis: report from 22 UK regional genetics laboratories. Hum. Mutation. 1995; 6:326–333.CrossRefGoogle Scholar
Cystic Fibrosis Genotype–Phenotype Consortium. Correlation between genotype and phenotype in patients with cystic fibrosis. N. Engl. J. Med. 1993; 329:1308–1313.CrossRef
Johansen, H. K., Nir, M., Hoiby, N.et al.Severity of cystic fibrosis in patients homozygous and heterozygous for ΔF508 mutation. Lancet 1991; 337:631–634.CrossRefGoogle Scholar
Farrell, M. H. & Farrell, P. M.Newborn screening for cystic fibrosis. J. Pediatr. 2003; 143:707–712.CrossRefGoogle ScholarPubMed
Frederickson, B., Lanng, S., Koch, C., & Hoiby, N.. Improved survival in the Danish center-treated cystic fibrosis patients: results of aggressive treatment. Pediatr. Pulmon. 1996; 21:153–158.3.0.CO;2-R>CrossRefGoogle Scholar
Britton, J. R.Effects of social class, sex and region of residence on age at death from cystic fibrosis. Br. Med. J. 1989; 298:483–487.CrossRefGoogle ScholarPubMed
Nir, M., Lanng, S., Johansen, H. K., & Koch, C.Long term survival and nutritional data in patients with cystic fibrosis treated in a Danish centre. Thorax 1996; 51:1023–1027.CrossRefGoogle Scholar
Hyde, S. C., Gill, D. R., Higgins, C. F.et al.Correction of the ion transport defect in cystic fibrosis transgenic mice by gene therapy. Nature 1993; 362:250–255.CrossRefGoogle ScholarPubMed
Gill, D. R., Southern, K. W., Moffard, K. A.et al.A placebo-controlled trial of liposome-mediated gene transfer to the nasal epithelium of patients with cystic fibrosis. Gene. Ther. 1997; 4:199–209.CrossRefGoogle ScholarPubMed
Colledge, W. H. & Evans, M. J.Cystic fibrosis gene therapy. Br. Med. Bull. 1995; 51:82–90.CrossRefGoogle ScholarPubMed
McDowell, A., Mahenthiralingam, E., Dunbar, K. E.et al.Epidemiology of Burkholderia cepacia complex species recovered from cystic fibrosis patients: issues related to patient segregation. J. Med. Microbiol. 2004; 53:663–668.CrossRefGoogle ScholarPubMed
Cystic Fibrosis Foundation, Patient Registry 1996 Annual Report. Bethesda, Maryland August 1997.
Marmon, L., Schidlow, D., Palmer, J.et al.Pulmonary resection for complications of cystic fibrosis. J. Pediatr. Surg. 1983; 18:811–815.CrossRefGoogle ScholarPubMed
Lucas, J., Connett, G. J., Lea, R.et al.Lung resection in cystic fibrosis patients with localised pulmonary disease. Arch. Dis. Child. 1996; 74:449–451.CrossRefGoogle ScholarPubMed
Richardson, V. F., Robertson, C. F., Mowat, A. P., Howard, E. R., & Price, J. F.Deterioration in lung function after general anaesthesia in patients with cystic fibrosis. Acta. Paediatr. Scand. 1984; 73:75–79.CrossRefGoogle ScholarPubMed
Penketh, A. R. L., Wise, A., Mearns, M. B.et al.Cystic fibrosis in adolescents and adults. Thorax 1987; 42:526–532.CrossRefGoogle ScholarPubMed
Schidlow, D. W., Taussig, L. M., & Knowles, M. R.Cystic Fibrosis Foundation consensus conference report on pulmonary complications of cystic fibrosis. Pediatr. Pulmonol. 1993; 15:187–198.CrossRefGoogle ScholarPubMed
Madden, B. P., Hodson, M. E., Tsang, V.et al.Intermediate term results of heart-lung transplantation for cystic fibrosis. Lancet 1992; 339:1583–1587.CrossRefGoogle ScholarPubMed
Egan, T. M., Detterbeck, F. C., Mill, M. R.et al.Improved results of lung transplantation for patients with cystic fibrosis. J. Thorac. Cardiovasc. Surg. 1995; 109:224–234.CrossRefGoogle ScholarPubMed
Starnes, V. A., Barr, M. L., Cohen, R. G.et al.Living-donor lobar lung transplantation experience: intermediate results. J. Thorac. Cardiovasc. Surg. 1996; 112:1284–1291.CrossRefGoogle ScholarPubMed
Balfour-Lynn, I. M., Martin, I., Whitehead, B. F.et al.Heart–lung transplantation for patients under 10 with cystic fibrosis. Arch. Dis. Child. 1997; 76:38–40.CrossRefGoogle ScholarPubMed
Egan, T. M., Detterbeck, F. C., Mill, M. R.et al.Long-term results of lung transplantation for cystic fibrosis. Eur. J. Cardiovasc. Surg. 2002; 22:602–609.CrossRefGoogle ScholarPubMed
Huddleston, C. B., Bloch, J. B., Sweet, S. C.et al.Lung transplantation in children. Ann. Surg. 2002; 236:270–276.CrossRefGoogle ScholarPubMed
Wiebe, K., Wahlers, T., Harringer, W.et al.Lung transplantation for cystic fibrosis – a single center experience. Eur. J. Cardiothorac. Surg. 1998; 14:191–196.CrossRefGoogle ScholarPubMed
Perrot, M., Chaparro, C., McRae, K.et al.Twenty-year experience of lung transplantation at a single center: influence of recipient diagnosis on long-term survival. J. Thorac. Cardiovasc. Surg. 2004; 127:1493–1501.CrossRefGoogle Scholar
Ryan, P. J. & Stableforth, D. E.Referral for lung transplantation: experience of the Birmingham Adult Cystic Fibrosis centre between 1987 and 1994. Thorax 1996; 51:302–305.CrossRefGoogle ScholarPubMed
Olsen, M. M., Gauderer, M. W., Girz, M. K., & Izant, R. J. Jr.Surgery in patients with cystic fibrosis. J. Pediatr. Surg. 1987; 22:613–618.CrossRefGoogle ScholarPubMed
Landsteiner, K.Darmverschluss durch Eingedicktes Meconium: pankreatitis. Zentralbl. Allg. Pathol. 1905; 16:903.Google Scholar
Gross, K., Desanto, A., Grosfeld, J. L.et al.Intrabdominal complications of cystic fibrosis. J. Pediatr. Surg. 1985; 20:431–435.CrossRefGoogle Scholar
Hiatt, R. B. & Wilson, P. E.Celiac syndrome. Therapy of meconium ileus: report of eight cases with a review of the literature. Surg. Gynecol. Obstet. 1948; 87:317–327.Google ScholarPubMed
Bishop, H. C. & Koop, C. E.Management of meconium ileus: resection, Roux-en-Y anastomosis and ileostomy irrigation with pancreatic enzymes. Ann. Surg. 1957; 145:410–414.CrossRefGoogle ScholarPubMed
Holsclaw, D. S., Eckstein, H. B., & Nixon, H. H.Meconium ileus. Am. J. Dis. Child. 1965; 109:101–113.CrossRefGoogle ScholarPubMed
Donnison, A. B., Shwachman, H., & Gross, R. E.A review of 164 children with meconium ileus seen at the Children's Hospital Medical Centre of Boston. Pediatrics 1966; 37:833–850.Google Scholar
Santulli, T. V. & Blanc, W. A.Congenital atresia of the intestine: pathogenesis and treatment. Ann. Surg. 1961; 154:939–948.Google ScholarPubMed
Nuygen, L. T., Youssef, S., Guttman, F. M., Laberge, J. M., et al.Meconium ileus: is a stoma necessary?J. Pediatr. Surg. 1986; 21:766–768.Google Scholar
Millar, A. J. W., Rode, H., & Cywes, S.Management of uncomplicated meconium ileus with T tube ileostomy. Arch. Dis. Child. 1988; 63:309–310.CrossRefGoogle ScholarPubMed
Mak, G. Z., Harberg, F. J., Hiatt, P.et al.T-tube ileostomy for meconium ileus: four decades of experience. J. Pediatr. Surg. 2000; 35:349–352.CrossRefGoogle ScholarPubMed
Fitzgerald, R. & Conlon, K.. Use of the appendix stump in the treatment of meconium ileus. J. Pediatr. Surg. 1989; 24:899–900.CrossRefGoogle ScholarPubMed
Noblett, H.Treatment of uncomplicated meconium ileus by Gastrografin enema: a preliminary report. J. Pediatr. Surg. 1969; 4:190–197.CrossRefGoogle ScholarPubMed
Waggett, J., Bishop, H. C., & Koop, C. E.Experience with Gastrografin enema in the treatment of meconium ileus. J. Pediatr. Surg. 1970; 5:649–654.CrossRefGoogle Scholar
Caniano, D. A. & Beaver, B. L.Meconium ileus: a fifteen-year experience with forty two neonates. Surgery 1987; 102:699–703.Google ScholarPubMed
Del Pin, C. A., Czyrko, C., Ziegler, M. M., Scanlin, T. F., & Bishop, H. C.Management and survival of meconium ileus. A 30 year review. Ann. Surg. 1992; 215:179–185.CrossRefGoogle ScholarPubMed
Rescorla, F. J. & Grosfeld, J. L.Contemporary management of meconium ileus. World. J. Surg. 1993; 17:318–325.CrossRefGoogle ScholarPubMed
Venugopal, S. & Shandling, B.Meconium ileus: laparotomy without resection, anastomosis or enterostomy?J. Pediatr. Surg. 1979; 14:715–719.CrossRefGoogle ScholarPubMed
O'Neil, J. A., Grosfeld, J. L., Boles, E. T.et al.Surgical treatment of meconium ileus. Am. J. Surg. 1970; 119:99–105.CrossRefGoogle Scholar
Kalayoglu, M., Sieber, W. K., Rodnan, J. B., & Kiesewetter, W. B.Meconium ileus: a critical review of treatment and eventual prognosis. J. Pediatr. Surg. 1971; 6:290–300.CrossRefGoogle ScholarPubMed
Docherty, J. G., Zaki, A., Coutts, J. A.et al.Meconium ileus: a review 1972–1990. Br. J. Surg. 1992; 79:571–573.CrossRefGoogle ScholarPubMed
Shwachman, H.Meconium ileus: ten patients over 28 years of age. J. Pediatr. Surg. 1983; 18:570–575.CrossRefGoogle ScholarPubMed
Elborn, J. S. & Bell, S. C.Nutrition and survival in cystic fibrosis. Thorax 1996; 51:971–972.CrossRefGoogle ScholarPubMed
Powers, C. J., Levitt, M. A., Tantoco, J.et al.The respiratory advantage of laparoscopic Nissen fundoplication. J. Pediatr. Surg. 2003; 38:886–891.CrossRefGoogle ScholarPubMed
Levy, E.A case of fibrocystic disease of the pancreas with intestinal obstruction. Arch. Dis. Child. 1951; 26:335–339.CrossRefGoogle ScholarPubMed
Park, R. W. & Grand, R. J.Gastrointestinal manifestations of cystic fibrosis: a review. Gastroenterology 1981; 81:1143–1161.Google ScholarPubMed
Khoshoo, V. & Udall, J. N.Meconium ileus equivalent in children and adults. Am. J. Gastroenterol. 1994; 89:153–157.Google ScholarPubMed
Koletzko, S., Corey, M., Ellis, L., & Durie, P. R.Effect of cisapride in patients with cystic fibrosis and distal intestinal obstruction. J. Pediatr. 1990; 117:815–822.CrossRefGoogle ScholarPubMed
Shwachman, H. & Kulczycki, L. L.Long term study of 105 patients with cystic fibrosis. Am. J. Dis. Child. 1958; 96:6–15.CrossRefGoogle Scholar
Smyth, R. L., Velzen, D., Smyth, A. R., Lloyd, D. A.et al.Strictures of ascending colon in cystic fibrosis and high-strength pancreatic enzymes. Lancet 1994 343:85–86.CrossRefGoogle ScholarPubMed
Smyth, R. L.Fibrosing colonopathy in cystic fibrosis. Arch. Dis. Child. 1996; 74:464–468.CrossRefGoogle ScholarPubMed
McCarthy, V. P., Mischler, E. H., Hubbard, V. S., Chernick, M. S., Sant'Agnese, P. A.Appendiceal abscess in cystic fibrosis. Gastroenterology 1984; 86:564–568.Google ScholarPubMed
Coughlin, J. P., Gauderer, M. W. L., Stern, R. C.et al.The spectrum of appendiceal diseae in cystic fibrosis. J. Pediatr. Surg. 1990; 25:835–839.CrossRefGoogle Scholar
Martens, M., Boeck, K., Steen, K.et al.A right lower quadrant mass in cystic fibrosis: a diagnostic challenge. Eur. J. Pediatr. 1992; 151:329–331.CrossRefGoogle ScholarPubMed
Rimmer, J. A. P., Gilbert, J. M., & Allen-Mersh, T. G.Appendicitis complicating meconium ileus equivalent. Br. J. Surg. 1989; 76:168.CrossRefGoogle ScholarPubMed
Holshaw, D. S. & Habboushe, C.Occult appendiceal abscess complicating cystic fibrosis. J. Pediatr. Surg. 1976; 11:217–220.CrossRefGoogle Scholar
Holmes, M., Murphy, V., Taylor, M., & Denham, B.Intussusception in cystic fibrosis. Arch. Dis. Child. 1991; 66:726–727.CrossRefGoogle ScholarPubMed
Littlewood, J. M.Gastrointesinal complications. Br. Med. Bull. 1992; 48:847–859.CrossRefGoogle Scholar
Lloyd-Still, J. D.Crohn's disease and cystic fibrosis. Dig. Dis. Sci. 1994; 39:880–885.CrossRefGoogle ScholarPubMed
Sheldon, C. D., Hodson, M. E., Carpenter, L. M., & Swerdlow, A. J.A cohort study of cystic fibrosis and malignancy. Br. J. Cancer. 1993; 68:1025–1028.CrossRefGoogle ScholarPubMed
Neglia, J. P., FitzSimmons, S. C., Maisonneuve, P.et al.The risk of cancer among patients with cystic fibrosis. N. Eng. J. Med. 1995; 332:494–499.CrossRefGoogle ScholarPubMed
Nagel, R. A., Javaid, A., Meire, H. B.et al.Liver disease and bile duct abnormalities in adults with cystic fibrosis. Lancet 1989; ⅱ:1422–1425.CrossRefGoogle Scholar
Evans, J. S., George, D. E., & Mollit, D.Biliary infusion therapy in the inspissated bile syndrome. J. Pediatr. Gastroenterol. Nutr. 1991; 12:131–135.CrossRefGoogle ScholarPubMed
Scott-Jupp, R., Lama, M., & Tanner, M. S.Prevalence of liver disease in cystic fibrosis. Arch. Dis. Child. 1991; 66:698–701.CrossRefGoogle ScholarPubMed
Sharp, H. L.Cystic fibrosis liver disease and transplantation. J. Pediatr. 1995; 127:944–946.Google ScholarPubMed
Colombo, C., Apostolo, M. G., Ferrari, M.et al.Analysis of risk factors for the development of liver disease associated with cystic fibrosis. J. Pediatr. 1994; 124:393–399.CrossRefGoogle ScholarPubMed
Stringer, M. D. Pathogenesis and management of esophageal and gastric varices. In Surgery of the Liver, Bile Ducts and Pancreas in Children, ed Howard, E. R., Stringer, M. D., Colombani, P. M.. London: Arnold 2002: 287–314.Google Scholar
Stringer, M. D., Price, J. F., Mowat, A. P., & Howard, E. R.Liver cirrhosis in cystic fibrosis. Arch. Dis. Child. 1993; 69:407.CrossRefGoogle ScholarPubMed
Pozler, O., Krajina, A., Vanicek, H.et al.Transjugular intrahepatic portosystemic shunt in five children with cystic fibrosis: long-term results. Hepatogastroenterology 2003; 50:1111–1114.Google ScholarPubMed
Noble-Jamieson, G., Valente, J., Barnes, N. D.et al.Liver transplantation for hepatic cirrhosis in cystic fibrosis. Arch. Dis. Child. 1994; 71:349–352.CrossRefGoogle ScholarPubMed
Fridell, J. A., Bond, G. J., Mazariegos, G. V.et al.Liver transplantation in children with cystic fibrosis: a long-term longitudinal review of a single center's experience. J. Pediatr. Surg. 2003; 38:1152–1156.CrossRefGoogle ScholarPubMed
Ade-Ajayi, N., Law, C., Burge, D. M.et al.Surgery for pancreatic cystosis with pancreatitis in cystic fibrosis. Br. J. Surg. 1997; 84:312.CrossRefGoogle ScholarPubMed
diSant'Agnese, P. A. & Lepore, M. J.Involvement of abdominal organs in cystic fibrosis of the pancreas. Gastroenterology 1961; 40:64–68.Google Scholar
Shwachman, H., Lebenthal, E., & Khaw, K. T.Recurrent acute pancreatitis in patients with cystic fibrosis with normal pancreatic enzymes. Pediatrics 1975; 55:86–95.Google ScholarPubMed
Masaryk, T. J. & Achkar, E.. Pancreatitis as initial presentation of cystic fibrosis in young adults: a report of 2 cases. Dig. Dis. Sci. 1983; 28:874–878.CrossRefGoogle Scholar
Lambert, J. R., Cole, M., Crozier, D. N., Connon, J. J.Intrapancreatic common bile duct compression causing jaundice in an adult with cystic fibrosis. Gastroenterology 1981; 80:169–172.Google Scholar
Cohn, J. A., Freidman, K. J., Noone P. G. et al. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N. Eng. J. Med. 1998; 339:653–658.CrossRefGoogle ScholarPubMed
Abdul-Karim, F. W., King, T. A., Dahms, B. B.et al.Carcinoma of extrahepatic biliary system in an adult with cystic fibrosis. Gastroenterology 1982; 82:758–762.Google Scholar
Stern, R. C., Doershuk, C. F., & Drumm, M. L.3849+10 kb CT mutation and disease severity in cystic fibrosis. Lancet 1995; 346:274–276.CrossRefGoogle Scholar
Edenborough, F. P., Stableforth, D. E., Webb, A. K.et al.The outcome of pregnancy in cystic fibrosis. Thorax 1995; 50:170–174.CrossRefGoogle ScholarPubMed

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