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Congenital hepatic fibrosis

MedGen UID:: 40449
•Concept ID:: C0009714
•: Disease or Syndrome

Synonym:	Congenital liver 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]

Clinical features

From HPO

Polycystic kidney dysplasia

MedGen UID:: 9639
•Concept ID:: C0022680
•: Disease or Syndrome

The presence of multiple cysts in both kidneys.

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Enlarged kidney

MedGen UID:: 108156
•Concept ID:: C0542518
•: Finding

An abnormal increase in the size of the kidney.

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Renal insufficiency

MedGen UID:: 332529
•Concept ID:: C1565489
•: Disease or Syndrome

A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.

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Absence of renal corticomedullary differentiation

MedGen UID:: 342352
•Concept ID:: C1849765
•: Finding

A lack of differentiation between renal cortex and medulla on diagnostic imaging.

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Tubulointerstitial fibrosis

MedGen UID:: 370652
•Concept ID:: C1969372
•: Disease or Syndrome

A progressive detrimental connective tissue deposition (fibrosis) on the kidney parenchyma involving the tubules and interstitial tissue of the kidney. Tubulointerstitial injury in the kidney is complex, involving a number of independent and overlapping cellular and molecular pathways, with renal interstitial fibrosis and tubular atrophy (IF/TA) as the final common pathway. However, IF and TA are separable, as shown by the profound TA in renal artery stenosis, which characteristically has little or no fibrosis (or inflammation). For new annotations it is preferable to annotate to the specific HPO terms for Renal interstitial lfibrosis and/or Renal tubular atrophy.

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Hyperechogenic kidneys

MedGen UID:: 477530
•Concept ID:: C3275899
•: Finding

An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.

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Renal cyst

MedGen UID:: 854361
•Concept ID:: C3887499
•: Disease or Syndrome

A fluid filled sac in the kidney.

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Multiple small medullary renal cysts

MedGen UID:: 892386
•Concept ID:: C4024644
•: Disease or Syndrome

The presence of many cysts in the medulla of the kidney.

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Hypertensive disorder

MedGen UID:: 6969
•Concept ID:: C0020538
•: Disease or Syndrome

The presence of chronic increased pressure in the systemic arterial system.

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Portal hypertension

MedGen UID:: 9375
•Concept ID:: C0020541
•: Disease or Syndrome

Increased pressure in the portal vein.

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Esophageal varix

MedGen UID:: 5027
•Concept ID:: C0014867
•: Disease or Syndrome

Extreme dilation of the submucusoal veins in the lower portion of the esophagus.

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Hematemesis

MedGen UID:: 6770
•Concept ID:: C0018926
•: Sign or Symptom

The vomiting of blood.

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Hepatomegaly

MedGen UID:: 42428
•Concept ID:: C0019209
•: Finding

Abnormally increased size of the liver.

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Pancreatic cysts

MedGen UID:: 45293
•Concept ID:: C0030283
•: Disease or Syndrome

A cyst of the pancreas that possess a lining of mucous epithelium.

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Hepatic fibrosis

MedGen UID:: 116093
•Concept ID:: C0239946
•: Disease or Syndrome

The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process.

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Hepatic cysts

MedGen UID:: 82761
•Concept ID:: C0267834
•: Disease or Syndrome

A cystic lesion located in the liver.

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Periportal fibrosis

MedGen UID:: 337906
•Concept ID:: C1849766
•: Disease or Syndrome

The presence of fibrosis affecting the interlobular stroma of liver.

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Pulmonary hypoplasia

MedGen UID:: 78574
•Concept ID:: C0265783
•: Congenital Abnormality

A congenital abnormality in which the lung parenchyma is not fully developed. It may be associated with other congenital abnormalities.

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Splenomegaly

MedGen UID:: 52469
•Concept ID:: C0038002
•: Finding

Abnormal increased size of the spleen.

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Dehydration

MedGen UID:: 8273
•Concept ID:: C0011175
•: Disease or Syndrome

A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.

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Potter facies

MedGen UID:: 78614
•Concept ID:: C0266619
•: Congenital Abnormality

A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose.

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Oligohydramnios

MedGen UID:: 86974
•Concept ID:: C0079924
•: Pathologic Function

Diminished amniotic fluid volume in pregnancy.

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Show all Hide all

Abnormality of head or neck
- Potter facies
Abnormality of metabolism/homeostasis
- Dehydration
Abnormality of prenatal development or birth
- Oligohydramnios
Abnormality of the cardiovascular system
- Hypertensive disorder
- Portal hypertension
Abnormality of the digestive system
Abnormality of the genitourinary system
Abnormality of the immune system
- Splenomegaly
Abnormality of the respiratory system
- Pulmonary hypoplasia

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital hepatic fibrosis

Congenital, Hereditary, and Neonatal Diseases and Abnormalities
- Fetal anomaly
  - Congenital Systemic Disorder
    - Congenital Digestive System Disorder
      - Congenital 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

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: 33594464 Free 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

Paediatric chronic liver diseases: how to investigate and follow up? Role of imaging in the diagnosis of fibrosis.

Pariente D, Franchi-Abella S
Pediatr Radiol 2010 Jun;40(6):906-19. Epub 2010 Apr 30 doi: 10.1007/s00247-010-1600-3. PMID: 20432008

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Recent clinical studies

Etiology

An update on ductal plate malformations and fibropolycystic diseases of the liver.

Mirza H, Besse W, Somlo S, Weinreb J, Kenney B, Jain D
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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: 35961707

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: 34461951 Free 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

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Diagnosis

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: 33995794 Free PMC Article

Diagnosis of Congenital Hepatic Fibrosis in Adulthood.

Alsomali MI, Yearsley MM, Levin DM, Chen W
Am J Clin Pathol 2020 Jan 1;153(1):119-125. doi: 10.1093/ajcp/aqz140. PMID: 31584623

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

Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease.

Srinath A, Shneider BL
J Pediatr Gastroenterol Nutr 2012 May;54(5):580-7. doi: 10.1097/MPG.0b013e31824711b7. PMID: 22197937 Free PMC Article

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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

Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease.

Gunay-Aygun M, Font-Montgomery E, Lukose L, Tuchman Gerstein M, Piwnica-Worms K, Choyke P, Daryanani KT, Turkbey B, Fischer R, Bernardini I, Sincan M, Zhao X, Sandler NG, Roque A, Douek DC, Graf J, Huizing M, Bryant JC, Mohan P, Gahl WA, Heller T
Gastroenterology 2013 Jan;144(1):112-121.e2. Epub 2012 Oct 3 doi: 10.1053/j.gastro.2012.09.056. PMID: 23041322 Free PMC Article

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: 21694639 Free 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: 17461493 Free PMC Article

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Prognosis

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: 35961707

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: 34461951 Free PMC Article

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

Congenital hepatic fibrosis.

Okonkwo S, Choa G
Lancet 1972 Oct 14;2(7781):829. doi: 10.1016/s0140-6736(72)92197-6. PMID: 4116275

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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: 34461951 Free 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

Biallelic loss-of-function ZFYVE19 mutations are associated with congenital hepatic fibrosis, sclerosing cholangiopathy and high-GGT cholestasis.

Luan W, Hao CZ, Li JQ, Wei Q, Gong JY, Qiu YL, Lu Y, Shen CH, Xia Q, Xie XB, Zhang MH, Abuduxikuer K, Li ZD, Wang L, Xing QH, Knisely AS, Wang JS
J Med Genet 2021 Aug;58(8):514-525. Epub 2020 Jul 31 doi: 10.1136/jmedgenet-2019-106706. PMID: 32737136

Phenotypic variation and long-term outcome in children with congenital hepatic fibrosis.

Rawat D, Kelly DA, Milford DV, Sharif K, Lloyd C, McKiernan PJ
J Pediatr Gastroenterol Nutr 2013 Aug;57(2):161-6. doi: 10.1097/MPG.0b013e318291e72b. PMID: 23518487

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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Congenital hepatic fibrosis

Definition

Clinical features

Term Hierarchy

Conditions with this feature

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Consumer resources

Reviews

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