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Congenital hepatic fibrosis

MedGen UID:
40449
•Concept ID:
C0009714
•
Disease or Syndrome
Synonyms: Congenital liver fibrosis; Isolated congenital hepatic fibrosis
SNOMED CT: Congenital hepatic fibrosis (79607001)
 
HPO: HP:0002612
Monarch Initiative: MONDO:0018840
OMIM®: 263200
Orphanet: ORPHA485426

Definition

Congenital hepatic fibrosis is a disease of the liver that is present from birth. The liver has many important functions, including producing various substances needed by the body and breaking down other substances into smaller parts to be used or removed from the body.

Congenital hepatic fibrosis is characterized by abnormal formation of the bile ducts and the blood vessels of the hepatic portal system. Bile ducts carry bile (a fluid that helps to digest fats) from the liver to the gallbladder and small intestine. The hepatic portal system is a branching network of veins (portal veins) that carry blood from the gastrointestinal tract to the liver for processing.

A buildup of scar tissue (fibrosis) in the portal tracts also occurs in this disorder. Portal tracts are structures in the liver that bundle the vessels through which blood, lymph, and bile flow. Lymph is a fluid that helps exchange immune cells, proteins, and other substances between the blood and tissues. Fibrosis in the portal tracts can restrict the normal movement of fluids in these vessels.

Narrowing of the portal veins due to malformation and portal tract fibrosis results in high blood pressure in the hepatic portal system (portal hypertension). Portal hypertension impairs the flow of blood from the gastrointestinal tract, causing an increase in pressure in the veins of the esophagus, stomach, and intestines. These veins may stretch and their walls may become thin, leading to a risk of abnormal bleeding.

People with congenital hepatic fibrosis have an enlarged liver and spleen (hepatosplenomegaly). The liver is also abnormally shaped. Affected individuals also have an increased risk of infection of the bile ducts (cholangitis), hard deposits in the gallbladder or bile ducts (gallstones), and cancer of the liver or gallbladder.

Congenital hepatic fibrosis may occur alone, in which case it is called isolated congenital hepatic fibrosis. More frequently, it occurs as a feature of genetic syndromes that also affect the kidneys, such as polycystic kidney disease (PKD). [from MedlinePlus Genetics]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital hepatic fibrosis

Conditions with this feature

Saldino-Mainzer syndrome
MedGen UID:
341455
•Concept ID:
C1849437
•
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
See: Condition Record
COACH syndrome 2
MedGen UID:
1752166
•Concept ID:
C5436837
•
Disease or Syndrome
COACH syndrome is classically defined as Cerebellar vermis hypoplasia, Oligophrenia, Ataxia, Colobomas, and Hepatic fibrosis (Verloes and Lambotte, 1989). Brain MRI demonstrates the molar tooth sign, which is a feature of Joubert syndrome. The disorder has been described as a Joubert syndrome-related disorder with liver disease (summary by Doherty et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of COACH syndrome, see 216360.
See: Condition Record
Biliary, renal, neurologic, and skeletal syndrome
MedGen UID:
1794200
•Concept ID:
C5561990
•
Disease or Syndrome
Biliary, renal, neurologic, and skeletal syndrome (BRENS) is an autosomal recessive complex ciliopathy with multisystemic manifestations. The most common presentation is severe neonatal cholestasis that progresses to liver fibrosis and cirrhosis. Most patients have additional clinical features suggestive of a ciliopathy, including postaxial polydactyly, hydrocephalus, retinal abnormalities, and situs inversus. Additional features of the syndrome may include congenital cardiac defects, echogenic kidneys with renal failure, ocular abnormalities, joint hyperextensibility, and dysmorphic facial features. Some patients have global developmental delay. Brain imaging typically shows dilated ventricles, hypomyelination, and white matter abnormalities, although some patients have been described with abnormal pituitary development (summary by Shaheen et al., 2020 and David et al., 2020).
See: Condition Record
Biliary, renal, neurologic, and skeletal syndrome
COACH syndrome 2
Saldino-Mainzer syndrome

Professional guidelines

PubMed

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
Early clinical management of autosomal recessive polycystic kidney disease.
Liebau MC
Pediatr Nephrol 2021 Nov;36(11):3561-3570. Epub 2021 Feb 17 doi: 10.1007/s00467-021-04970-8. PMID: 33594464Free PMC Article
Non-cirrhotic portal hypertension - diagnosis and management.
Khanna R, Sarin SK
J Hepatol 2014 Feb;60(2):421-41. Epub 2013 Aug 23 doi: 10.1016/j.jhep.2013.08.013. PMID: 23978714

Recent clinical studies

Etiology

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
Inflammatory pathways and cholangiocarcinoma risk mechanisms and prevention.
Cadamuro M, Strazzabosco M
Adv Cancer Res 2022;156:39-73. Epub 2022 Mar 10 doi: 10.1016/bs.acr.2022.02.001. PMID: 35961707Free PMC Article
Liver transplantation for congenital hepatic fibrosis.
Wu WK, Ziogas IA, Izzy M, Pai AK, Hafberg ET, Matsuoka LK, Alexopoulos SP
Transpl Int 2021 Jul;34(7):1281-1292. Epub 2021 May 30 doi: 10.1111/tri.13884. PMID: 33877715
Non-cirrhotic portal hypertension - diagnosis and management.
Khanna R, Sarin SK
J Hepatol 2014 Feb;60(2):421-41. Epub 2013 Aug 23 doi: 10.1016/j.jhep.2013.08.013. PMID: 23978714
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA
Mol Genet Metab 2010 Feb;99(2):160-73. Epub 2009 Oct 20 doi: 10.1016/j.ymgme.2009.10.010. PMID: 19914852Free PMC Article

Diagnosis

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 hepatic fibrosis: case report and review of literature.
Hasbaoui BE, Rifai Z, Saghir S, Ayad A, Lamalmi N, Abilkassem R, Agadr A
Pan Afr Med J 2021;38:188. Epub 2021 Feb 18 doi: 10.11604/pamj.2021.38.188.27941. PMID: 33995794Free PMC Article
Hepatic morphology abnormalities: beyond cirrhosis.
Mamone G, Cortis K, Sarah A, Caruso S, Miraglia R
Abdom Radiol (NY) 2018 Jul;43(7):1612-1626. doi: 10.1007/s00261-017-1351-9. PMID: 29043403
Non-cirrhotic portal hypertension - diagnosis and management.
Khanna R, Sarin SK
J Hepatol 2014 Feb;60(2):421-41. Epub 2013 Aug 23 doi: 10.1016/j.jhep.2013.08.013. PMID: 23978714
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Bergmann C, Senderek J, Windelen E, Küpper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schöneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Büttner R, Zerres K; APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie)
Kidney Int 2005 Mar;67(3):829-48. doi: 10.1111/j.1523-1755.2005.00148.x. PMID: 15698423

Therapy

Liver disease in kidney transplant recipients.
Gunderson A, Said A
Transplant Rev (Orlando) 2015 Jan;29(1):1-7. Epub 2014 Aug 27 doi: 10.1016/j.trre.2014.08.002. PMID: 25306468
Portal hypertension in children.
Grimaldi C, de Ville de Goyet J, Nobili V
Clin Res Hepatol Gastroenterol 2012 Jun;36(3):260-1. Epub 2012 Apr 21 doi: 10.1016/j.clinre.2012.03.016. PMID: 22521554
Congenital hepatic fibrosis and portal hypertension in autosomal dominant polycystic kidney disease.
O'Brien K, Font-Montgomery E, Lukose L, Bryant J, Piwnica-Worms K, Edwards H, Riney L, Garcia A, Daryanani K, Choyke P, Mohan P, Heller T, Gahl WA, Gunay-Aygun M
J Pediatr Gastroenterol Nutr 2012 Jan;54(1):83-9. doi: 10.1097/MPG.0b013e318228330c. PMID: 21694639Free PMC Article
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

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
Non-cirrhotic portal hypertension.
Sarin SK, Khanna R
Clin Liver Dis 2014 May;18(2):451-76. doi: 10.1016/j.cld.2014.01.009. PMID: 24679506
Non-cirrhotic portal hypertension - diagnosis and management.
Khanna R, Sarin SK
J Hepatol 2014 Feb;60(2):421-41. Epub 2013 Aug 23 doi: 10.1016/j.jhep.2013.08.013. PMID: 23978714
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA
Mol Genet Metab 2010 Feb;99(2):160-73. Epub 2009 Oct 20 doi: 10.1016/j.ymgme.2009.10.010. PMID: 19914852Free PMC Article
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Bergmann C, Senderek J, Windelen E, Küpper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schöneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Büttner R, Zerres K; APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie)
Kidney Int 2005 Mar;67(3):829-48. doi: 10.1111/j.1523-1755.2005.00148.x. PMID: 15698423

Clinical prediction guides

Congenital hepatic fibrosis and its mimics: a clinicopathologic study of 19 cases at a single institution.
Chen IY, Whitney-Miller CL, Liao X
Diagn Pathol 2021 Aug 30;16(1):81. doi: 10.1186/s13000-021-01142-y. PMID: 34461951Free PMC Article
Liver transplantation for congenital hepatic fibrosis.
Wu WK, Ziogas IA, Izzy M, Pai AK, Hafberg ET, Matsuoka LK, Alexopoulos SP
Transpl Int 2021 Jul;34(7):1281-1292. Epub 2021 May 30 doi: 10.1111/tri.13884. PMID: 33877715
PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis.
Gunay-Aygun M, Tuchman M, Font-Montgomery E, Lukose L, Edwards H, Garcia A, Ausavarat S, Ziegler SG, Piwnica-Worms K, Bryant J, Bernardini I, Fischer R, Huizing M, Guay-Woodford L, Gahl WA
Mol Genet Metab 2010 Feb;99(2):160-73. Epub 2009 Oct 20 doi: 10.1016/j.ymgme.2009.10.010. PMID: 19914852Free PMC Article
Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
Bergmann C, Senderek J, Windelen E, Küpper F, Middeldorf I, Schneider F, Dornia C, Rudnik-Schöneborn S, Konrad M, Schmitt CP, Seeman T, Neuhaus TJ, Vester U, Kirfel J, Büttner R, Zerres K; APN (Arbeitsgemeinschaft für Pädiatrische Nephrologie)
Kidney Int 2005 Mar;67(3):829-48. doi: 10.1111/j.1523-1755.2005.00148.x. PMID: 15698423
What is congenital hepatic fibrosis?
Desmet VJ
Histopathology 1992 Jun;20(6):465-77. doi: 10.1111/j.1365-2559.1992.tb01031.x. PMID: 1607148

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