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Extrahepatic biliary atresia(EHBA)

MedGen UID:
1621383
Concept ID:
C4520983
Congenital Abnormality
Synonym: Extrahepatic biliary duct atresia
SNOMED CT: Congenital atresia of extrahepatic bile duct (82821008); Extrahepatic biliary atresia (82821008); EHBA - Extrahepatic biliary atresia (82821008)
 
HPO: HP:0005242
Monarch Initiative: MONDO:0100285
OMIM®: 210500

Definition

Biliary atresia is a disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. Untreated, the resulting cholestasis leads to progressive conjugated hyperbilirubinemia, cirrhosis, and hepatic failure (Bates et al., 1998). Most patients require liver transplantation within the first year of life (Leyva-Vega et al., 2010). See also Alagille syndrome (118450), which includes biliary atresia as a feature. [from OMIM]

Clinical features

From HPO
Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormally increased size of the liver.
Jaundice
MedGen UID:
43987
Concept ID:
C0022346
Sign or Symptom
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
Cirrhosis of liver
MedGen UID:
7368
Concept ID:
C0023890
Disease or Syndrome
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Bile duct proliferation
MedGen UID:
120603
Concept ID:
C0267818
Disease or Syndrome
Proliferative changes of the bile ducts.
Acholic stools
MedGen UID:
436478
Concept ID:
C2675627
Finding
Clay colored stools lacking bile pigment.
Atretic gallbladder
MedGen UID:
479575
Concept ID:
C3277945
Finding
Failure of formation of the lumen of the gallbladder, often associated with gallbladder hypoplasia.
Portal fibrosis
MedGen UID:
893107
Concept ID:
C3805083
Disease or Syndrome
Fibroblast proliferation and fiber expansion from the portal areas to the lobule.
Extrahepatic biliary atresia
MedGen UID:
1621383
Concept ID:
C4520983
Congenital Abnormality
Biliary atresia is a disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. Untreated, the resulting cholestasis leads to progressive conjugated hyperbilirubinemia, cirrhosis, and hepatic failure (Bates et al., 1998). Most patients require liver transplantation within the first year of life (Leyva-Vega et al., 2010). See also Alagille syndrome (118450), which includes biliary atresia as a feature.
Unconjugated hyperbilirubinemia
MedGen UID:
82786
Concept ID:
C0268306
Disease or Syndrome
An increased amount of unconjugated (indirect) bilurubin in the blood.
Hyperbilirubinemia
MedGen UID:
86321
Concept ID:
C0311468
Finding
An increased amount of bilirubin in the blood.
Increased total bilirubin
MedGen UID:
152856
Concept ID:
C0741494
Finding
Increased concentration of total (conjugated and unconjugated) bilirubin in the blood.
Elevated circulating hepatic transaminase concentration
MedGen UID:
338525
Concept ID:
C1848701
Finding
Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage.

Term Hierarchy

Conditions with this feature

Martinez-Frias syndrome
MedGen UID:
318628
Concept ID:
C1832443
Disease or Syndrome
The Martinez-Frias syndrome is characterized by pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula. There is considerable phenotypic overlap between Martinez-Frias syndrome and Mitchell-Riley syndrome (MTCHRS; 615710), the latter being characterized by neonatal diabetes in addition to the features of the Martinez-Frias syndrome, but without tracheoesophageal fistula (Smith et al., 2010).
Extrahepatic biliary atresia
MedGen UID:
1621383
Concept ID:
C4520983
Congenital Abnormality
Biliary atresia is a disorder of infants in which there is progressive obliteration or discontinuity of the extrahepatic biliary system, resulting in obstruction of bile flow. Untreated, the resulting cholestasis leads to progressive conjugated hyperbilirubinemia, cirrhosis, and hepatic failure (Bates et al., 1998). Most patients require liver transplantation within the first year of life (Leyva-Vega et al., 2010). See also Alagille syndrome (118450), which includes biliary atresia as a feature.

Professional guidelines

PubMed

Oh M, Hobeldin M, Chen T, Thomas DW, Atkinson JB
J Pediatr Surg 1995 Jul;30(7):1077-80; discussion 1080-1. doi: 10.1016/0022-3468(95)90345-3. PMID: 7472936
Lai MW, Chang MH, Hsu SC, Hsu HC, Su CT, Kao CL, Lee CY
J Pediatr Gastroenterol Nutr 1994 Feb;18(2):121-7. doi: 10.1097/00005176-199402000-00001. PMID: 8014758
Hirsig J, Rickham PP
J Pediatr Surg 1980 Feb;15(1):13-5. doi: 10.1016/s0022-3468(80)80394-0. PMID: 6445003

Recent clinical studies

Etiology

Kahn E
Pediatr Dev Pathol 2004 Mar-Apr;7(2):109-24. Epub 2004 Mar 4 doi: 10.1007/s10024-003-0307-y. PMID: 14994122
Nowicki MJ, Poley JR
Baillieres Clin Gastroenterol 1998 Jun;12(2):355-67. doi: 10.1016/s0950-3528(98)90139-7. PMID: 9890077
Houwen RH, Zwierstra RP, Severijnen RS, Bouquet J, Madern G, Vos A, Bax NM, Heymans HS, Bijleveld CM
Arch Dis Child 1989 Feb;64(2):214-8. doi: 10.1136/adc.64.2.214. PMID: 2930227Free PMC Article
Bennion RS, Thompson JE Jr, Tompkins RK
Arch Surg 1988 Oct;123(10):1257-60. doi: 10.1001/archsurg.1988.01400340083014. PMID: 3052366
Alagille D
Hepatology 1984 Jan-Feb;4(1 Suppl):7S-10S. doi: 10.1002/hep.1840040704. PMID: 6693074

Diagnosis

Jain R, Gupta A, Kandasamy D, Jana M
Indian J Pediatr 2022 Sep;89(9):899-907. Epub 2022 Jun 2 doi: 10.1007/s12098-022-04171-7. PMID: 35653074
Bassett MD, Murray KF
J Clin Gastroenterol 2008 Jul;42(6):720-9. doi: 10.1097/MCG.0b013e3181646730. PMID: 18496390Free PMC Article
de Carvalho E, Ivantes CA, Bezerra JA
J Pediatr (Rio J) 2007 Mar-Apr;83(2):105-20. doi: 10.2223/JPED.1608. PMID: 17426869
Kahn E
Pediatr Dev Pathol 2004 Mar-Apr;7(2):109-24. Epub 2004 Mar 4 doi: 10.1007/s10024-003-0307-y. PMID: 14994122
Lefkowitch JH
Mayo Clin Proc 1998 Jan;73(1):90-5. doi: 10.1016/S0025-6196(11)63625-2. PMID: 9443685

Therapy

Cordeiro C, Ferreira S, Nobre S, Cunha C, Julião MJ, Brito M, Gonçalves I
Pediatr Transplant 2023 May;27(3):e14469. Epub 2023 Jan 8 doi: 10.1111/petr.14469. PMID: 36617693
Stovicek J, Hlava S, Keil R, Drabek J, Lochmannova J, Koptová P, Wasserbauer M, Frybova B, Snajdauf J, Kotalova R, Rygl M
Can J Gastroenterol Hepatol 2021;2021:9969825. Epub 2021 Jun 24 doi: 10.1155/2021/9969825. PMID: 34258256Free PMC Article
Zhao X, Lorent K, Escobar-Zarate D, Rajagopalan R, Loomes KM, Gillespie K, Mesaros C, Estrada MA, Blair IA, Winkler JD, Spinner NB, Devoto M, Pack M
Gastroenterology 2020 Sep;159(3):1068-1084.e2. Epub 2020 Jun 4 doi: 10.1053/j.gastro.2020.05.080. PMID: 32505743Free PMC Article
Kotb MA
Int J Mol Sci 2012;13(7):8882-8914. Epub 2012 Jul 17 doi: 10.3390/ijms13078882. PMID: 22942741Free PMC Article
Kaufman SS, Murray ND, Wood RP, Shaw BW Jr, Vanderhoof JA
J Pediatr 1987 May;110(5):679-86. doi: 10.1016/s0022-3476(87)80002-1. PMID: 3106606

Prognosis

Bassett MD, Murray KF
J Clin Gastroenterol 2008 Jul;42(6):720-9. doi: 10.1097/MCG.0b013e3181646730. PMID: 18496390Free PMC Article
de Carvalho E, Ivantes CA, Bezerra JA
J Pediatr (Rio J) 2007 Mar-Apr;83(2):105-20. doi: 10.2223/JPED.1608. PMID: 17426869
Houwen RH, Zwierstra RP, Severijnen RS, Bouquet J, Madern G, Vos A, Bax NM, Heymans HS, Bijleveld CM
Arch Dis Child 1989 Feb;64(2):214-8. doi: 10.1136/adc.64.2.214. PMID: 2930227Free PMC Article
Balistreri WF
J Pediatr 1985 Feb;106(2):171-84. doi: 10.1016/s0022-3476(85)80282-1. PMID: 3881579
Alagille D
Hepatology 1984 Jan-Feb;4(1 Suppl):7S-10S. doi: 10.1002/hep.1840040704. PMID: 6693074

Clinical prediction guides

Stovicek J, Hlava S, Keil R, Drabek J, Lochmannova J, Koptová P, Wasserbauer M, Frybova B, Snajdauf J, Kotalova R, Rygl M
Can J Gastroenterol Hepatol 2021;2021:9969825. Epub 2021 Jun 24 doi: 10.1155/2021/9969825. PMID: 34258256Free PMC Article
Lee JY, Sullivan K, El Demellawy D, Nasr A
J Pediatr Surg 2016 May;51(5):753-61. Epub 2016 Feb 13 doi: 10.1016/j.jpedsurg.2016.02.016. PMID: 26932252
Moore SW, Zabiegaj-Zwick C, Nel E
S Afr Med J 2012 Sep 11;102(11 Pt 2):890-2. doi: 10.7196/samj.6163. PMID: 23116753
Yamaguti DC, Patrício FR
Eur J Gastroenterol Hepatol 2011 Sep;23(9):759-65. doi: 10.1097/MEG.0b013e32832e9df0. PMID: 21694599
Caton AR, Druschel CM, McNutt LA
Paediatr Perinat Epidemiol 2004 Mar;18(2):97-105. doi: 10.1111/j.1365-3016.2003.00536.x. PMID: 14996248

Recent systematic reviews

Lee JY, Sullivan K, El Demellawy D, Nasr A
J Pediatr Surg 2016 May;51(5):753-61. Epub 2016 Feb 13 doi: 10.1016/j.jpedsurg.2016.02.016. PMID: 26932252
Gottesman LE, Del Vecchio MT, Aronoff SC
BMC Pediatr 2015 Nov 20;15:192. doi: 10.1186/s12887-015-0506-5. PMID: 26589959Free PMC Article

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