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Bile duct cyst

MedGen UID:
3037
Concept ID:
C0008340
Congenital Abnormality
Synonyms: Bile duct cysts; Choledochal cyst; Choledochocele; Congenital choledochal cyst; Cyst of the ductus choledochus
SNOMED CT: Choledochocele (397868007); Congenital choledochal cyst (398197009); Choledochocoele (397868007); Congenital biliary duct cyst (398197009); Cystic dilatation of common bile duct (440471007); Congenital cystic dilatation of common bile duct (1204346009); Congenital choledochal cyst of common bile duct (1204346009); Choledochal cyst (1204371007); Choledochocyst (1204371007); Cystic dilatation of wall of biliary tract (1204371007); Congenital cystic dilatation of wall of biliary tract (398197009)
 
HPO: HP:0100890
Monarch Initiative: MONDO:0018805
OMIM®: 603003
Orphanet: ORPHA480501

Definition

A rare biliary tract disease characterized by congenital fusiform or cystic dilatation of intra- and/or extrahepatic bile ducts. Females are much more often affected than males. Clinical signs and symptoms include abdominal pain, jaundice, presence of a palpable abdominal mass, nausea, vomiting, or fever. Depending on the age of the patient, the condition may be complicated by stone formation, hepatomegaly, rupture with subsequent bile peritonitis, cholangitis, cholecystitis, biliary strictures, pancreatitis, or secondary biliary cirrhosis. The risk of malignancy, particularly cholangiocarcinoma, is significantly increased. [from ORDO]

Conditions with this feature

Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
MedGen UID:
1790413
Concept ID:
C5551361
Disease or Syndrome
Neurodevelopmental disorder with dysmorphic facies and thin corpus callosum (NEDDFAC) is characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, and dysmorphic facial features. Brain imaging tends to show thin corpus callosum and decreased white matter volume. Additional features such as seizures, cardiac defects, and behavioral abnormalities may also occur. The phenotype is variable (summary by Bina et al., 2020).

Professional guidelines

PubMed

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
Cerwenka H
World J Gastroenterol 2013 Aug 28;19(32):5207-11. doi: 10.3748/wjg.v19.i32.5207. PMID: 23983423Free PMC Article
Van Hasselt EJ, Obertop H, Van Vroonhoven TJ, Molenaar JC
Neth J Surg 1983 Sep;35(4):144-9. PMID: 6633926

Recent clinical studies

Etiology

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
Cerwenka H
World J Gastroenterol 2013 Aug 28;19(32):5207-11. doi: 10.3748/wjg.v19.i32.5207. PMID: 23983423Free PMC Article
Kendrick ML, Nagorney DM
Curr Opin Gastroenterol 2009 May;25(3):240-4. doi: 10.1097/mog.0b013e328329887c. PMID: 19396963
Søreide K, Søreide JA
Ann Surg Oncol 2007 Mar;14(3):1200-11. Epub 2006 Dec 23 doi: 10.1245/s10434-006-9294-3. PMID: 17187167
Söreide K, Körner H, Havnen J, Söreide JA
Br J Surg 2004 Dec;91(12):1538-48. doi: 10.1002/bjs.4815. PMID: 15549778

Diagnosis

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
Dumitrascu T, Ionescu M
Acta Chir Belg 2014 Jan-Feb;114(1):82-3. PMID: 24720146
Cerwenka H
World J Gastroenterol 2013 Aug 28;19(32):5207-11. doi: 10.3748/wjg.v19.i32.5207. PMID: 23983423Free PMC Article
Søreide K, Søreide JA
Ann Surg Oncol 2007 Mar;14(3):1200-11. Epub 2006 Dec 23 doi: 10.1245/s10434-006-9294-3. PMID: 17187167
Mortele KJ, Ros PR
Clin Liver Dis 2002 Feb;6(1):119-45. doi: 10.1016/s1089-3261(03)00069-2. PMID: 11933585

Therapy

Zhang C, Zhou J, Kou K, Liu S, We F, Wang G
Medicine (Baltimore) 2018 Feb;97(8):e9956. doi: 10.1097/MD.0000000000009956. PMID: 29465585Free PMC Article
Ouaissi M, Kianmanesh R, Ragot E, Belghiti J, Wildhaber B, Nuzzo G, Dubois R, Revillon Y, Cherqui D, Azoulay D, Letoublon C, Pruvot FR, Roux A, Mabrut JY, Gigot JF; French Surgical Association
HPB (Oxford) 2016 Jun;18(6):529-39. Epub 2016 Jun 3 doi: 10.1016/j.hpb.2016.04.005. PMID: 27317958Free PMC Article
Xian GZ, Wu SD, Chen CC, Su Y
Hepatobiliary Pancreat Dis Int 2009 Dec;8(6):608-13. PMID: 20007078
He ZP, Hou WL, Bie P, Dong JH, Wang SG, Han BL, Cai JX, Li ZH, Chen P, Ma KS, Zheng SG
Hepatobiliary Pancreat Dis Int 2003 Nov;2(4):587-93. PMID: 14627525
Todani T, Tabuchi K, Watanabe Y, Kobayashi T
Cancer 1979 Sep;44(3):1134-41. doi: 10.1002/1097-0142(197909)44:3<1134::aid-cncr2820440350>3.0.co;2-t. PMID: 383269

Prognosis

Xia HT, Liu Y, Yang T, Liang B, Wang J, Dong JH
J Surg Res 2017 Jul;215:21-27. Epub 2017 Apr 1 doi: 10.1016/j.jss.2017.03.036. PMID: 28688649
Burke ZD, Boechat I, Tabsh K, Deugarte DA
Pediatr Surg Int 2014 Feb;30(2):245-7. Epub 2013 Jun 5 doi: 10.1007/s00383-013-3329-1. PMID: 23736702
Søreide K, Søreide JA
Ann Surg Oncol 2007 Mar;14(3):1200-11. Epub 2006 Dec 23 doi: 10.1245/s10434-006-9294-3. PMID: 17187167
Söreide K, Körner H, Havnen J, Söreide JA
Br J Surg 2004 Dec;91(12):1538-48. doi: 10.1002/bjs.4815. PMID: 15549778
Lai HC, Wu YK, Lai HS
J Formos Med Assoc 1996 Jul;95(7):567-71. PMID: 8840762

Clinical prediction guides

Darnis B, Mohkam K, Cauchy F, Cazauran JB, Bancel B, Rode A, Ducerf C, Lesurtel M, Mabrut JY
HPB (Oxford) 2018 Nov;20(11):985-991. Epub 2018 Jun 7 doi: 10.1016/j.hpb.2018.04.002. PMID: 29887260
Ragot E, Mabrut JY, Ouaïssi M, Sauvanet A, Dokmak S, Nuzzo G, Halkic N, Dubois R, Létoublon C, Cherqui D, Azoulay D, Irtan S, Boudjema K, Pruvot FR, Gigot JF, Kianmanesh R; Working Group of the French Surgical Association
World J Surg 2017 Feb;41(2):538-545. doi: 10.1007/s00268-016-3684-x. PMID: 27620132
Ouaissi M, Kianmanesh R, Ragot E, Belghiti J, Wildhaber B, Nuzzo G, Dubois R, Revillon Y, Cherqui D, Azoulay D, Letoublon C, Pruvot FR, Roux A, Mabrut JY, Gigot JF; French Surgical Association
HPB (Oxford) 2016 Jun;18(6):529-39. Epub 2016 Jun 3 doi: 10.1016/j.hpb.2016.04.005. PMID: 27317958Free PMC Article
Ouaïssi M, Kianmanesh R, Belghiti J, Ragot E, Mentha G, Adham M, Troisi RI, Pruvot FR, Dugué L, Paye F, Ayav A, Nuzzo G, Falconi M, Demartines N, Mabrut JY, Gigot JF; Working Group of the French Surgical Association
Ann Surg 2015 Jul;262(1):130-8. doi: 10.1097/SLA.0000000000000761. PMID: 24979598
Todani T, Tabuchi K, Watanabe Y, Kobayashi T
Cancer 1979 Sep;44(3):1134-41. doi: 10.1002/1097-0142(197909)44:3<1134::aid-cncr2820440350>3.0.co;2-t. PMID: 383269

Recent systematic reviews

Darnis B, Mohkam K, Cauchy F, Cazauran JB, Bancel B, Rode A, Ducerf C, Lesurtel M, Mabrut JY
HPB (Oxford) 2018 Nov;20(11):985-991. Epub 2018 Jun 7 doi: 10.1016/j.hpb.2018.04.002. PMID: 29887260

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