Developmental Abnormalities of the Bile Duct and Foregut

  • Masaki Iwai
  • Takahiro Mori
  • Wilson M. S. TsuiEmail author


Extrahepatic biliary atresia, paucity of intrahepatic bile ducts, viral hepatitis, and malformations of bile ducts are the main causes of neonatal cholestasis. Biliary atresia occurs due to inflammation and destruction of extrahepatic bile duct systems in utero and during the perinatal period. Malformations of bile ducts are associated with abnormal remodeling of embryonic bile duct plate and fibrocystic lesions are developed, and they include congenital hepatic fibrosis [1], Caroli’s disease [2], microhamartoma [3], and choledochal cyst, and they carry an increased risk of bile duct carcinoma. Differing from other cystic lesions, ciliated hepatic cyst arising from embryonic foregut is detected incidentally in adults and should be differentiated from bile duct lesions [4]. Infantile and adult types of hereditary polycystic disease cause renal failure, and hepatic failure is rare [5, 6].



Autosomal dominant polycystic kidney disease


Autosomal dominant polycystic liver disease


Autosomal recessive polycystic kidney disease


Congenital hepatic fibrosis


Erythroblastic oncogene B2


Gadolinium ethoxybenzyl diethylenetriaminepentaacetic acid magnetic resonance imaging


MAP (Mitogen-Activated Protein) / ERK (Extracellular Signal-Regulated Kinase) kinase


Mechanistic target of rapamycin


Space-occupying lesion

Srk kinase

S-receptor kinase


  1. 1.
    De Vos BF, CuveLier C. Congenital hepatic fibrosis. J Hepatol. 1988;6:222–8.CrossRefGoogle Scholar
  2. 2.
    Dagli U, Atalay F, Sasmaz N, Bostanoglu S, Temucin G, Sahin B. Caroli’s disease: 1977–1995 experiences. Eur J Gastroenterol Hepatol. 1998;10:109–12.CrossRefGoogle Scholar
  3. 3.
    Thommesen N. Biliary hamartomas (von Meyenburg complexes) in liver needle biopsies. Acta Pathol Microbiol Sacd Sect A. 1978;86:93–9.Google Scholar
  4. 4.
    Vick DJ, Goodman ZD, Deavers MT, et al. Ciliated foregut cyst. A study of six cases and review of the literature. Am J Surg Pathol. 1999;23:671–7.CrossRefGoogle Scholar
  5. 5.
    Everson GT, Taylor MR, Doctor RB. Polycystic disease of the liver. Hepatology. 2004;40:774–82.CrossRefGoogle Scholar
  6. 6.
    Krohn PS, Hillingso JG, Kirkegaard P. Liver transplantation in polycystic liver disease: a relevant treatment modality for adults? Scad J Gastroenterol. 2008;43:89–94.CrossRefGoogle Scholar
  7. 7.
    Lefkowitch JH. Biliary atresia. Mayo Clin Proc. 1998;73:90–5.CrossRefGoogle Scholar
  8. 8.
    Balistreri WF, Grand R, Hoofnagle JH, Suchy FJ, Ryckman FC, Perlmutter DH, et al. Biliary atresia: current concepts and research directions. Summary of a symposium. Hepatology. 1996;23:1682–92.CrossRefGoogle Scholar
  9. 9.
    Adelman S. Prognosis of uncorrected biliary atresia: an update. J Pediatr Surg. 1978;13:389–91.CrossRefGoogle Scholar
  10. 10.
    Carmi R, Magee CA, NEILL CA, Karrer FM. Extrahepatic biliary atresia and associated anomalies: etiologic heterogeneity suggested by distinctive patterns of associations. Am J Med Genet. 1993;45:683–93.CrossRefGoogle Scholar
  11. 11.
    Petersen C, Davenport M. Aetiology of biliary atresia: what is actually known? Orphanet J Rare Dis. 2013;8(1):128.CrossRefGoogle Scholar
  12. 12.
    Brindley SM, Lanham AM, Karrer FM, Tucker RM, Fontenor AP, Mack CI. Cytomegalovirus-specific T-cell reactivity in biliary atresia at the time of diagnosis is associated with deficits in regulatory T cells. Hepatology. 2012;55:1130–8.CrossRefGoogle Scholar
  13. 13.
    Miethke AG, Sexena V, Shivakumar P, Sabla GE, Simmons J, Chougnet CA. Post-natal paucity of regulatory T cells and control of NK cell activation in experimental biliary atresia. J Hepatol. 2010;52:718–26.CrossRefGoogle Scholar
  14. 14.
    Kasai M, Suzuki H, Ohashi E, et al. Technique and results of operative management of biliary atresia. World J Surg. 1978;2:571–9.CrossRefGoogle Scholar
  15. 15.
    Mack CL, Feldman AG, Sokol RJ. Clues to the etiology of bile duct injury in biliary atresia. Semin Liver Dis. 2012;32:307–16.CrossRefGoogle Scholar
  16. 16.
    Summerfield J, Nagafuchi Y, Sherlock S, et al. Hepatobiliary fibro-polycystic diseases. A clinical and histological review of 51 patients. J Hepatol. 1986;2:141–56.CrossRefGoogle Scholar
  17. 17.
    Caroli J. Diseases of the intrahepatic biliary tree. Clin Gastroenterol. 1973;2:147–61.PubMedGoogle Scholar
  18. 18.
    Choi BI, Mo-Yeon K, Kim SH, Han MC. Caroli disease: central dot sign in CT. Radiology. 1990;174:161–3.CrossRefGoogle Scholar
  19. 19.
    Brancatelli G, Federle MP, Vilgrain V, Vullierme MP, Marin D, Lagalla R. Polycystic liver disease: CT and MRI imaging findings. Radiographics. 2005;25:659–70.CrossRefGoogle Scholar
  20. 20.
    Wheeler DA, Edmondson HA. Ciliated hepatic foregut cyst. Am J Surg Pathol. 1984;8:467–70.CrossRefGoogle Scholar
  21. 21.
    Farlanetto A, Dei Tos AP. Squamous cell carcinoma arising in a ciliated hepatic foregut cyst. Virchows Arch. 2002;441:296–8.CrossRefGoogle Scholar
  22. 22.
    Ward CJ, Hogan MC, Rossetti S, et al. The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet. 2002;30:259–69.CrossRefGoogle Scholar
  23. 23.
    Torres VE, Harris PC, Pirson Y. Autosomal dominant polycystic kidney disease. Lancet. 2007;369:1287–301.CrossRefGoogle Scholar
  24. 24.
    Pirson Y, Lannoy N, Peters D, et al. Isolated polycystic liver disease as a distinct genetic disease, unlinked to polycystic kidney disease 1 and polycystic kidney disease 2. Hepatology. 1996;23:249–52.CrossRefGoogle Scholar
  25. 25.
    Dmitrewski J, Olliff S, Buckels JA. Obstructive jaundice associated with polycystic liver disease. HPB Surg. 1996;10:117–20.CrossRefGoogle Scholar
  26. 26.
    Cowles RA, Mulholland MW. Solitary hepatic cysts. J Am Coll Surg. 2000;191:311–21.CrossRefGoogle Scholar
  27. 27.
    Garcea G, Pattenden CJ, Stephenson J, Dannison AR, Berry DP. Nine-year single-center experience with non-parasitic liver cysts: diagnosis and management. Dig Dis Sci. 2007;52:185–91.CrossRefGoogle Scholar
  28. 28.
    Yoshida H, Onda M, Tajiri T, Arima Y, Mamada Y, Taniai N, et al. Long-term results of multiple minocycline hydrochloride injections for the treatment of symptomatic solitary hepatic cyst. J Gastroenterol Hepatol. 2003;18:595–8.CrossRefGoogle Scholar
  29. 29.
    Okano A, Hajiro K, Takakuwa H, Nishio A. Alcohol sclerotherapy of hepatic cysts: its effect in relation to ethanol concentration. Hepatol Res. 2000;17:179–84.CrossRefGoogle Scholar
  30. 30.
    Russell RT, Pinson CW. Surgical management of polycystic liver disease. World J Gastroenterol. 2007;13:5052–9.CrossRefGoogle Scholar

Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  • Masaki Iwai
    • 1
  • Takahiro Mori
    • 2
  • Wilson M. S. Tsui
    • 3
    Email author
  1. 1.KyotoJapan
  2. 2.HyogoJapan
  3. 3.Hong KongChina

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