Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-6bf8c574d5-7jkgd Total loading time: 0 Render date: 2025-03-01T04:26:58.794Z Has data issue: false hasContentIssue false

Chapter 8 - Approach to the Infant with Cholestasis

from Section II - Cholestatic Liver Disease

Published online by Cambridge University Press:  19 January 2021

By
Amy G. Feldman  and
Frederick J. Suchy
Edited by
Frederick J. Suchy ,
Ronald J. Sokol  and
William F. Balistreri
Edited in association with
Jorge A. Bezerra ,
Cara L. Mack  and
Benjamin L. Shneider
Frederick J. Suchy
Affiliation:
University of Colorado, Children’s Hospital Colorado, Aurora
Ronald J. Sokol
Affiliation:
University of Colorado, Children’s Hospital Colorado, Aurora
William F. Balistreri
Affiliation:
Cincinnati Children’s Hospital Medical Center, Cincinnati
Jorge A. Bezerra
Affiliation:
Cincinnati Children’s Hospital Medical Center, Cincinnati
Cara L. Mack
Affiliation:
University of Colorado, Children’s Hospital Colorado, Aurora
Benjamin L. Shneider
Affiliation:
Texas Children’s Hospital, Houston
Get access

Summary

Jaundice sometimes appears at birth, indicated by the dark yellow color of the countenance and arising from obstructions of the liver. Cases are generally incurable.

Type
Chapter
Information
Liver Disease in Children , pp. 107 - 115
Publisher: Cambridge University Press
Print publication year: 2021

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Pearson, HA. Lectures on the diseases of children by Eli Ives, MD of Yale and New Haven: America’s first academic pediatrician. Pediatrics 1986;77:680–6.Google Scholar
Trauner, M, Meier, PJ, Boyer, JL. Molecular pathogenesis of cholestasis. N Engl J Med 1998;339:1217–27.Google Scholar
Koopen, NR, Muller, M, Vonk, RJ, Zimniak, P, Kuipers, F. Molecular mechanisms of cholestasis: causes and consequences of impaired bile formation. Biochim Biophys Acta 1998;1408:1–17.Google Scholar
Suchy, FJ. Neonatal cholestasis. Pediatr Rev 2004;25:388–96.Google Scholar
Fawaz, R, Baumann, U, Ekong, U, et al. Guideline for the Evaluation of Cholestatic Jaundice in Infants: Joint Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition and the European Society for Pediatric Gastroenterology, Hepatology, and Nutrition. J Pediatr Gastroenterol Nutr 2017;64:154–68.Google Scholar
Sokol, RJ, Shepherd, RW, Superina, R, Bezerra, JA, Robuck, P, Hoofnagle, JH. Screening and outcomes in biliary atresia: summary of a National Institutes of Health workshop. Hepatology 2007;46:566–81.Google Scholar
Balistreri, WF, Bezerra, JA. Whatever happened to “neonatal hepatitis”? Clin Liver Dis 2006;10:27–53, v.CrossRefGoogle ScholarPubMed
Dick, MC, Mowat, AP. Hepatitis syndrome in infancy–an epidemiological survey with 10 year follow up. Arch Dis Child 1985;60:512–16.Google Scholar
Danks, DM, Campbell, PE, Jack, I, Rogers, J, Smith, AL. Studies of the aetiology of neonatal hepatitis and biliary atresia. Arch Dis Child 1977;52:360–7.Google Scholar
Hartley, JL, Davenport, M, Kelly, DA. Biliary atresia. Lancet 2009;374:1704–13.Google Scholar
Hopkins, PC, Yazigi, N, Nylund, CM. Incidence of biliary atresia and timing of hepatoportoenterostomy in the United States. J Pediatr 2017;187:253–7.Google Scholar
Bezerra, JA, Balistreri, WF. Cholestatic syndromes of infancy and childhood. Semin Gastrointest Dis 2001;12:54–65.Google Scholar
Torbenson, M, Hart, J, Westerhoff, M, et al. Neonatal giant cell hepatitis: histological and etiological findings. Am J Surg Pathol 2010;34:1498–503.Google Scholar
Jacquemin, E, Lykavieris, P, Chaoui, N, Hadchouel, M, Bernard, O. Transient neonatal cholestasis: origin and outcome. J Pediatr 1998;133:563–7.Google Scholar
Emerick, KM, Whitington, PF. Molecular basis of neonatal cholestasis. Pediatr Clin North Am 2002;49:221–35.Google Scholar
Carlton, VE, Pawlikowska, L, Bull, LN. Molecular basis of intrahepatic cholestasis. Ann Med 2004;36:606–17.Google Scholar
Bull, LN, Thompson, RJ. Progressive familial intrahepatic cholestasis. Clin Liver Dis 2018;22:657–69.Google Scholar
Thompson, R, Strautnieks, S. BSEP: function and role in progressive familial intrahepatic cholestasis. Semin Liver Dis 2001;21:545–50.Google Scholar
Yehezkely-Schildkraut, V, Munichor, M, Mandel, H, et al. Nonsyndromic paucity of interlobular bile ducts: report of 10 patients. J Pediatr Gastroenterol Nutr 2003;37:546–9.CrossRefGoogle ScholarPubMed
Balistreri, WF. Intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 2002;35 (Suppl 1):S17–23.Google Scholar
Moyer, V, Freese, DK, Whitington, PF, et al. Guideline for the Evaluation of Cholestatic Jaundice in Infants: Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 2004;39:115–28.Google Scholar
Sokol, RJ, Mack, C, Narkewicz, MR, Karrer, FM. Pathogenesis and outcome of biliary atresia: current concepts. J Pediatr Gastroenterol Nutr 2003;37:4–21.CrossRefGoogle ScholarPubMed
Kamath, BM, Piccoli, DA. Heritable disorders of the bile ducts. Gastroenterol Clin North Am 2003;32:857–75, vi.CrossRefGoogle ScholarPubMed
Sokol, RJ, Mack, C. Etiopathogenesis of biliary atresia. Semin Liver Dis 2001;21:517–24.Google Scholar
Kelly, DA, McKiernan, PJ. Metabolic liver disease in the pediatric patient. Clin Liver Dis 1998;2:1–30, v.Google Scholar
Goncalves, I, Hermans, D, Chretien, D, et al. Mitochondrial respiratory chain defect: a new etiology for neonatal cholestasis and early liver insufficiency. J Hepatol 1995;23:290–4.Google Scholar
Sokol, RJ, Stall, C. Anthropometric evaluation of children with chronic liver disease. Am J Clin Nutr 1990;52:203–8.Google Scholar
Davenport, M. Biliary atresia. Semin Pediatr Surg 2005;14:42–8.Google Scholar
Butler, AE, Schreiber, RA, Yanchar, N, Emil, S, Laberge, JM. The Canadian Biliary Atresia Registry: Improving the care of Canadian infants with biliary atresia. Paediatr Child Health 2016;21:131–4.Google Scholar
Serinet, MO, Wildhaber, BE, Broue, P, et al. Impact of age at Kasai operation on its results in late childhood and adolescence: a rational basis for biliary atresia screening. Pediatrics 2009;123:1280–6.CrossRefGoogle ScholarPubMed
Mieli-Vergani, G, Howard, ER, Portman, B, Mowat, AP. Late referral for biliary atresia–missed opportunities for effective surgery. Lancet 1989;1:421–3.Google Scholar
Lee, WS. Pre-admission consultation and late referral in infants with neonatal cholestasis. J Paediatr Child Health 2008;44:57–61.Google Scholar
Schreiber, RA, Barker, CC, Roberts, EA, et al. Biliary atresia: the Canadian experience. J Pediatr 2007;151:659–65, 65 e1.Google Scholar
Suchy, FJ. Clinical problems with developmental anomalies of the biliary tract. Semin Gastrointest Dis 2003;14:156–64.Google ScholarPubMed
Suchy, FJ. (1992). Neonatal jaundice and cholestasis. In: Kaplowitz, N. (Ed.), Liver and Biliary Diseases (p. 446). Baltimore, MD: Williams & Wilkins.Google Scholar
Rinaldo, P, Tortorelli, S, Matern, D. Recent developments and new applications of tandem mass spectrometry in newborn screening. Curr Opin Pediatr 2004;16:427–33.Google Scholar
Balistreri, WF, HH, AK, Setchell, KD, Gremse, D, Ryckman, FC, Schroeder, TJ. New methods for assessing liver function in infants and children. Ann Clin Lab Sci 1992;22:162–74.Google Scholar
Rosenthal, P. Assessing liver function and hyperbilirubinemia in the newborn. National Academy of Clinical Biochemistry. Clin Chem 1997;43:228–34.Google Scholar
Maggiore, G, Bernard, O, Hadchouel, M, Lemonnier, A, Alagille, D. Diagnostic value of serum gamma-glutamyl transpeptidase activity in liver diseases in children. J Pediatr Gastroenterol Nutr 1991;12:21–6.Google Scholar
Shneider, BL, Moore, J, Kerkar, N, et al. Initial assessment of the infant with neonatal cholestasis. Is this biliary atresia? PloS One 2017;12:e0176275.Google Scholar
Fitzpatrick, E, Jardine, R, Farrant, P, et al. Predictive value of bile duct dimensions measured by ultrasound in neonates presenting with cholestasis. J Pediatr Gastroenterol Nutr 2010;51:55–60.CrossRefGoogle ScholarPubMed
Nievelstein, RA, Robben, SG, Blickman, JG. Hepatobiliary and pancreatic imaging in children: techniques and an overview of non-neoplastic disease entities. Pediatric Radiology 2011;41:55–75.Google Scholar
Kanegawa, K, Akasaka, Y, Kitamura, E, et al. Sonographic diagnosis of biliary atresia in pediatric patients using the “triangular cord” sign versus gallbladder length and contraction. AJR Am J Roentgenol 2003;181:1387–90.Google Scholar
Kianifar, HR, Tehranian, S, Shojaei, P, et al. Accuracy of hepatobiliary scintigraphy for differentiation of neonatal hepatitis from biliary atresia: systematic review and meta-analysis of the literature. Pediatric Radiology 2013;43:905–19.Google Scholar
Russo, P, Magee, JC, Boitnott, J, et al. Design and validation of the biliary atresia research consortium histologic assessment system for cholestasis in infancy. Clin Gastroenterol Hepatol 2011;9(4):357–62.e2.Google Scholar
Russo, P, Magee, JC, Anders, RA, et al. Key histopathologic features of liver biopsies that distinguish biliary atresia from other causes of infantile cholestasis and their correlation with outcome: a multicenter study. Am J Surg Pathol 2016;40:1601–15.Google Scholar
Feldman, AG, Sokol, RJ. Neonatal cholestasis: emerging molecular diagnostics and potential novel therapeutics. Nat Rev Gastroenterol Hepatol 2019;16(61):346–60.Google Scholar
Wang, NL, Lu, YL, Zhang, P, et al. A specially designed multi-gene panel facilitates genetic diagnosis in children with intrahepatic cholestasis: simultaneous test of known large insertions/deletions. PloS One 2016;11:e0164058.Google Scholar
Togawa, T, Sugiura, T, Ito, K, et al. Molecular genetic dissection and neonatal/infantile intrahepatic cholestasis using targeted next-generation sequencing. J Pediatr 2016;171:171–7 e4.Google Scholar
Karpen, S, Kamath, B, Alexander, J, et al. Use of a comprehensive 66 gene panel to diagnose the causes of cholestasis in >700 individuals. Hepatology 2017;66(S1):655A Abstract 1213.Google Scholar
Herbst, SM, Schirmer, S, Posovszky, C, et al. Taking the next step forward – Diagnosing inherited infantile cholestatic disorders with next generation sequencing. Mol Cell Probes 2015;29:291–8.Google Scholar
Lien, TH, Chang, MH, Wu, JF, et al. Effects of the infant stool color card screening program on 5-year outcome of biliary atresia in Taiwan. Hepatology 2011;53:202–8.Google Scholar
Franciscovich, A, Vaidya, D, Doyle, J, et al. PoopMD, a mobile health application, accurately identifies infant acholic stools. PloS One 2015;10:e0132270.Google Scholar
Lertudomphonwanit, C, Mourya, R, Fei, L, et al. Large-scale proteomics identifies MMP-7 as a sentinel of epithelial injury and of biliary atresia. Sci Transl Med 2017;9:eaan8462. doi: 10.1126/scitranslmed.aan8462Google Scholar
Harpavat, S, Finegold, MJ, Karpen, SJ. Patients with biliary atresia have elevated direct/conjugated bilirubin levels shortly after birth. Pediatrics 2011;128:e1428–33.CrossRefGoogle ScholarPubMed
Harpavat, S, Garcia-Prats, JA, Shneider, BL. Newborn bilirubin screening for biliary atresia. N Engl J Med 2016;375:605–6.Google Scholar
Harpavat, S, Ramraj, R, Finegold, MJ, et al. Newborn direct or conjugated bilirubin measurements as a potential screen for biliary atresia. J Pediatr Gastroenterol Nutr 2016;62:799–803.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure no-reply@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×