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Caroli disease

MedGen UID:
57924
•Concept ID:
C0162510
•
Congenital Abnormality; Disease or Syndrome
Synonyms: Caroli disease isolated; Congenital polycystic dilatation of intrahepatic bile ducts; Cystic dilatation of the intrahepatic biliary tree
SNOMED CT: Congenital dilatation of lobar intrahepatic bile duct (111331000); Caroli disease (717232005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Autosomal recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0010913
OMIM®: 600643
Orphanet: ORPHA53035

Definition

A rare congenital disorder characterised by multifocal, segmental dilatation of the large intrahepatic bile ducts. It may present at any age and predominantly affects females. Less than 250 cases have been described worldwide. Caroli disease is characterised by bile ductal ectasia without other apparent hepatic abnormalities. It presents with recurrent bacterial cholangitis, biliary stones causing biliary pain or episodes of pancreatitis. The more common variant of this disease, named Caroli syndrome, is characterised by dilatations of the large bile duct associated with congenital hepatic fibrosis. The aetiology of Caroli disease is unknown and its occurrence is sporadic, whereas Caroli syndrome is generally inherited in an autosomal recessive manner. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCaroli disease

Professional guidelines

PubMed

Diagnosis and management of choledochal cysts.
Brown ZJ, Baghdadi A, Kamel I, Labiner HE, Hewitt DB, Pawlik TM
HPB (Oxford) 2023 Jan;25(1):14-25. Epub 2022 Oct 5 doi: 10.1016/j.hpb.2022.09.010. PMID: 36257874
EASL Clinical Practice Guidelines on the management of cystic liver diseases.
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2022 Oct;77(4):1083-1108. Epub 2022 Jun 18 doi: 10.1016/j.jhep.2022.06.002. PMID: 35728731
Pediatric choledochal cysts: diagnosis and current management.
Soares KC, Goldstein SD, Ghaseb MA, Kamel I, Hackam DJ, Pawlik TM
Pediatr Surg Int 2017 Jun;33(6):637-650. Epub 2017 Mar 31 doi: 10.1007/s00383-017-4083-6. PMID: 28364277

Recent clinical studies

Etiology

Diagnosis and management of choledochal cysts.
Brown ZJ, Baghdadi A, Kamel I, Labiner HE, Hewitt DB, Pawlik TM
HPB (Oxford) 2023 Jan;25(1):14-25. Epub 2022 Oct 5 doi: 10.1016/j.hpb.2022.09.010. PMID: 36257874
Pediatric choledochal cysts: diagnosis and current management.
Soares KC, Goldstein SD, Ghaseb MA, Kamel I, Hackam DJ, Pawlik TM
Pediatr Surg Int 2017 Jun;33(6):637-650. Epub 2017 Mar 31 doi: 10.1007/s00383-017-4083-6. PMID: 28364277
Cholangiocarcinoma: Current Knowledge and New Developments.
Blechacz B
Gut Liver 2017 Jan 15;11(1):13-26. doi: 10.5009/gnl15568. PMID: 27928095Free PMC Article
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J, Porath JD, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA; GPN Study Group
Hum Genet 2013 Aug;132(8):865-84. Epub 2013 Apr 5 doi: 10.1007/s00439-013-1297-0. PMID: 23559409Free PMC Article
Biliary cystic disease.
Levy AD, Rohrmann CA Jr
Curr Probl Diagn Radiol 2003 Nov-Dec;32(6):233-63. doi: 10.1016/j.cpradiol.2003.08.002. PMID: 14647122

Diagnosis

Diagnosis and management of choledochal cysts.
Brown ZJ, Baghdadi A, Kamel I, Labiner HE, Hewitt DB, Pawlik TM
HPB (Oxford) 2023 Jan;25(1):14-25. Epub 2022 Oct 5 doi: 10.1016/j.hpb.2022.09.010. PMID: 36257874
EASL Clinical Practice Guidelines on the management of cystic liver diseases.
European Association for the Study of the Liver. Electronic address: easloffice@easloffice.eu; European Association for the Study of the Liver
J Hepatol 2022 Oct;77(4):1083-1108. Epub 2022 Jun 18 doi: 10.1016/j.jhep.2022.06.002. PMID: 35728731
Pediatric choledochal cysts: diagnosis and current management.
Soares KC, Goldstein SD, Ghaseb MA, Kamel I, Hackam DJ, Pawlik TM
Pediatr Surg Int 2017 Jun;33(6):637-650. Epub 2017 Mar 31 doi: 10.1007/s00383-017-4083-6. PMID: 28364277
Caroli's disease.
Issar P, Issar SK
Indian J Gastroenterol 2014 Sep;33(5):500. Epub 2013 Sep 11 doi: 10.1007/s12664-013-0403-5. PMID: 24022473
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Halbritter J, Porath JD, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA; GPN Study Group
Hum Genet 2013 Aug;132(8):865-84. Epub 2013 Apr 5 doi: 10.1007/s00439-013-1297-0. PMID: 23559409Free PMC Article

Therapy

The rate of cholangiocarcinoma in Caroli Disease A German multicenter study.
Fard-Aghaie MH, Makridis G, Reese T, Feyerabend B, Wagner KC, Schnitzbauer A, Bechstein WO, Oldhafer F, Kleine M, Klempnauer J, Rolinger J, Nadalin S, Königsrainer A, Vassos N, Grützmann R, Benkö T, Paul A, Li J, Fischer L, Beaumont K, Nüssler N, Fahrner R, Settmacher U, Fichtner-Feigl S, Schöning W, Pratschke J, Eckhoff JA, Wahba R, Bruns C, Bernsmeier A, Braun F, Becker T, Lurje G, Neumann UP, Dohmen J, Manekeller S, Kalff JC, Mehrabi A, Büchler MW, Lang SA, Schlitt HJ, Tripke V, Lang H, Oldhafer KJ
HPB (Oxford) 2022 Feb;24(2):267-276. Epub 2021 Jul 7 doi: 10.1016/j.hpb.2021.06.423. PMID: 34294522
Unusual Indications for a Liver Transplant: A Single-Center Experience.
Akdur A, Kirnap M, Ayvazoglu Soy EH, Ozcay F, Moray G, Arslan G, Haberal M
Exp Clin Transplant 2017 Feb;15(Suppl 1):128-132. doi: 10.6002/ect.mesot2016.P11. PMID: 28260452
Clinical characteristics of Caroli's syndrome.
Yonem O, Bayraktar Y
World J Gastroenterol 2007 Apr 7;13(13):1934-7. doi: 10.3748/wjg.v13.i13.1934. PMID: 17461493Free PMC Article
Caroli's disease: identification and treatment strategy.
Ananthakrishnan AN, Saeian K
Curr Gastroenterol Rep 2007 Apr;9(2):151-5. doi: 10.1007/s11894-007-0010-7. PMID: 17418061
Caroli's disease and orthotopic liver transplantation.
Habib S, Shakil O, Couto OF, Demetris AJ, Fung JJ, Marcos A, Chopra K
Liver Transpl 2006 Mar;12(3):416-21. doi: 10.1002/lt.20719. PMID: 16498655

Prognosis

Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management.
Burgmaier K, Broekaert IJ, Liebau MC
Adv Kidney Dis Health 2023 Sep;30(5):468-476. doi: 10.1053/j.akdh.2023.01.005. PMID: 38097335
Congenital Cystic Lesions of the Bile Ducts: Imaging-Based Diagnosis.
Cannella R, Giambelluca D, Diamarco M, Caruana G, Cutaia G, Midiri M, Salvaggio G
Curr Probl Diagn Radiol 2020 Jul-Aug;49(4):285-293. Epub 2019 Apr 6 doi: 10.1067/j.cpradiol.2019.04.005. PMID: 31027922
Liver resection and transplantation in Caroli disease and syndrome.
Fahrner R, Dennler SGC, Dondorf F, Ardelt M, Rauchfuss F, Settmacher U
J Visc Surg 2019 Apr;156(2):91-95. Epub 2018 Jun 19 doi: 10.1016/j.jviscsurg.2018.06.001. PMID: 29929811
Pediatric choledochal cysts: diagnosis and current management.
Soares KC, Goldstein SD, Ghaseb MA, Kamel I, Hackam DJ, Pawlik TM
Pediatr Surg Int 2017 Jun;33(6):637-650. Epub 2017 Mar 31 doi: 10.1007/s00383-017-4083-6. PMID: 28364277
Cholangiocarcinoma: Current Knowledge and New Developments.
Blechacz B
Gut Liver 2017 Jan 15;11(1):13-26. doi: 10.5009/gnl15568. PMID: 27928095Free PMC Article

Clinical prediction guides

Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review.
Yao X, Ao W, Fang J, Mao G, Chen C, Yu L, Cai H, Xu C
BMC Pregnancy Childbirth 2021 Apr 12;21(1):294. doi: 10.1186/s12884-021-03768-8. PMID: 33845788Free PMC Article
Risk of malignancy in Caroli disease and syndrome: A systematic review.
Fahrner R, Dennler SG, Inderbitzin D
World J Gastroenterol 2020 Aug 21;26(31):4718-4728. doi: 10.3748/wjg.v26.i31.4718. PMID: 32884228Free PMC Article
Liver resection and transplantation in Caroli disease and syndrome.
Fahrner R, Dennler SGC, Dondorf F, Ardelt M, Rauchfuss F, Settmacher U
J Visc Surg 2019 Apr;156(2):91-95. Epub 2018 Jun 19 doi: 10.1016/j.jviscsurg.2018.06.001. PMID: 29929811
Hepatorenal fibrocystic diseases in children.
Park E, Lee JM, Ahn YH, Kang HG, Ha II, Lee JH, Park YS, Kim NK, Park WY, Cheong HI
Pediatr Nephrol 2016 Jan;31(1):113-9. Epub 2015 Aug 11 doi: 10.1007/s00467-015-3185-4. PMID: 26260382
Clinical classification of Caroli's disease: an analysis of 30 patients.
Wang ZX, Li YG, Wang RL, Li YW, Li ZY, Wang LF, Yang HY, Zhu Y, Wang Y, Bai YF, He TT, Zhang XF, Xiao XH
HPB (Oxford) 2015 Mar;17(3):278-83. Epub 2014 Oct 19 doi: 10.1111/hpb.12330. PMID: 25327281Free PMC Article

Recent systematic reviews

Risk of malignancy in Caroli disease and syndrome: A systematic review.
Fahrner R, Dennler SG, Inderbitzin D
World J Gastroenterol 2020 Aug 21;26(31):4718-4728. doi: 10.3748/wjg.v26.i31.4718. PMID: 32884228Free PMC Article
Liver transplantation for benign hepatic tumors: a systematic review.
Ercolani G, Grazi GL, Pinna AD
Dig Surg 2010;27(1):68-75. Epub 2010 Apr 1 doi: 10.1159/000268628. PMID: 20357454

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      Clinical tests in GTR
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