U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Periportal fibrosis

MedGen UID:
337906
Concept ID:
C1849766
Disease or Syndrome; Finding
Synonyms: Peri-Portal Fibrosis; Periportal Fibrosis
SNOMED CT: Periportal fibrosis (870517000)
 
HPO: HP:0001405

Definition

The presence of fibrosis affecting the interlobular stroma of liver. [from HPO]

Term Hierarchy

Conditions with this feature

Cholesteryl ester storage disease
MedGen UID:
40266
Concept ID:
C0008384
Disease or Syndrome
Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease (WOLD; 620151) and cholesteryl ester storage disease (CESD). WOLD is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).
Type IV short rib polydactyly syndrome
MedGen UID:
96578
Concept ID:
C0432198
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). Patients with a clinical diagnosis of Beemer-Langer syndrome have been found to carry mutations in the IFT80 gene (611177); see SRTD2, 611263. For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (208500).
Gillessen-Kaesbach-Nishimura syndrome
MedGen UID:
376653
Concept ID:
C1849762
Disease or Syndrome
Gillessen-Kaesbach-Nishimura syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by skeletal dysplasia, dysmorphic facial features, and variable visceral abnormalities, including polycystic kidneys, diaphragmatic hernia, lung hypoplasia, and congenital heart defects. It may be lethal in utero or early in life. The disorder is at the severe end of the phenotypic spectrum of congenital disorders of glycosylation (summary by Tham et al., 2016).
Hepatic fibrosis-renal cysts-intellectual disability syndrome
MedGen UID:
347120
Concept ID:
C1859300
Disease or Syndrome
Hepatic fibrosis-renal cysts-intellectual disability syndrome is a rare, syndromic intellectual disability characterized by early developmental delay with failure to thrive, intellectual disability, congenital hepatic fibrosis, renal cystic dysplasia, and dysmorphic facial features (bilateral ptosis, anteverted nostrils, high arched palate, and micrognathia). Variable additional features have been reported, including cerebellar anomalies, postaxial polydactyly, syndactyly, genital anomalies, tachypnea. There have been no further descriptions in the literature since 1987.
Mitochondrial complex III deficiency nuclear type 1
MedGen UID:
762097
Concept ID:
C3541471
Disease or Syndrome
Autosomal recessive mitochondrial complex III deficiency is a severe multisystem disorder with onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development. Visceral involvement, including hepatopathy and renal tubulopathy, may also occur. Many patients die in early childhood, but some may show longer survival (de Lonlay et al., 2001; De Meirleir et al., 2003). Genetic Heterogeneity of Mitochondrial Complex III Deficiency Mitochondrial complex III deficiency can be caused by mutation in several different nuclear-encoded genes. See MC3DN2 (615157), caused by mutation in the TTC19 gene (613814) on chromosome 17p12; MC3DN3 (615158), caused by mutation in the UQCRB gene (191330) on chromosome 8q; MC3DN4 (615159), caused by mutation in the UQCRQ gene (612080) on chromosome 5q31; MC3DN5 (615160), caused by mutation in the UQCRC2 gene (191329) on chromosome 16p12; MC3DN6 (615453), caused by mutation in the CYC1 gene (123980) on chromosome 8q24; MC3DN7 (615824), caused by mutation in the UQCC2 gene (614461) on chromosome 6p21; MC3DN8 (615838), caused by mutation in the LYRM7 gene (615831) on chromosome 5q23; MC3DN9 (616111), caused by mutation in the UQCC3 gene (616097) on chromosome 11q12; and MC3DN10 (618775), caused by mutation in the UQCRFS1 gene (191327) on chromosome 19q12. See also MTYCB (516020) for a discussion of a milder phenotype associated with isolated mitochondrial complex III deficiency and mutations in a mitochondrial-encoded gene.
Nephronophthisis 16
MedGen UID:
815650
Concept ID:
C3809320
Disease or Syndrome
The nephronophthisis (NPH) phenotype is characterized by reduced renal concentrating ability, chronic tubulointerstitial nephritis, cystic renal disease, and progression to end-stage renal disease (ESRD) before age 30 years. Three age-based clinical subtypes are recognized: infantile, juvenile, and adolescent/adult. Infantile NPH can present in utero with oligohydramnios sequence (limb contractures, pulmonary hypoplasia, and facial dysmorphisms) or postnatally with renal manifestations that progress to ESRD before age 3 years. Juvenile NPH, the most prevalent subtype, typically presents with polydipsia and polyuria, growth retardation, chronic iron-resistant anemia, or other findings related to chronic kidney disease (CKD). Hypertension is typically absent due to salt wasting. ESRD develops at a median age of 13 years. Ultrasound findings are increased echogenicity, reduced corticomedullary differentiation, and renal cysts (in 50% of affected individuals). Histologic findings include tubulointerstitial fibrosis, thickened and disrupted tubular basement membrane, sporadic corticomedullary cysts, and normal or reduced kidney size. Adolescent/adult NPH is clinically similar to juvenile NPH, but ESRD develops at a median age of 19 years. Within a subtype, inter- and intrafamilial variability in rate of progression to ESRD is considerable. Approximately 80%-90% of individuals with the NPH phenotype have no extrarenal features (i.e., they have isolated NPH); ~10%-20% have extrarenal manifestations that constitute a recognizable syndrome (e.g., Joubert syndrome, Bardet-Biedl syndrome, Jeune syndrome and related skeletal disorders, Meckel-Gruber syndrome, Senior-Løken syndrome, Leber congenital amaurosis, COACH syndrome, and oculomotor apraxia, Cogan type).
Very long chain acyl-CoA dehydrogenase deficiency
MedGen UID:
854382
Concept ID:
C3887523
Disease or Syndrome
Deficiency of very long-chain acyl-coenzyme A dehydrogenase (VLCAD), which catalyzes the initial step of mitochondrial beta-oxidation of long-chain fatty acids with a chain length of 14 to 20 carbons, is associated with three phenotypes. The severe early-onset cardiac and multiorgan failure form typically presents in the first months of life with hypertrophic or dilated cardiomyopathy, pericardial effusion, and arrhythmias, as well as hypotonia, hepatomegaly, and intermittent hypoglycemia. The hepatic or hypoketotic hypoglycemic form typically presents during early childhood with hypoketotic hypoglycemia and hepatomegaly, but without cardiomyopathy. The later-onset episodic myopathic form presents with intermittent rhabdomyolysis provoked by exercise, muscle cramps and/or pain, and/or exercise intolerance. Hypoglycemia typically is not present at the time of symptoms.
Polycystic kidney disease 4
MedGen UID:
1621793
Concept ID:
C4540575
Disease or Syndrome
Autosomal recessive polycystic kidney disease (ARPKD) belongs to a group of congenital hepatorenal fibrocystic syndromes and is a cause of significant renal and liver-related morbidity and mortality in children. The majority of individuals with ARPKD present in the neonatal period with enlarged echogenic kidneys. Renal disease is characterized by nephromegaly, hypertension, and varying degrees of renal dysfunction. More than 50% of affected individuals with ARPKD progress to end-stage renal disease (ESRD) within the first decade of life; ESRD may require kidney transplantation. Pulmonary hypoplasia resulting from oligohydramnios occurs in a number of affected infants. Approximately 30% of these infants die in the neonatal period or within the first year of life from respiratory insufficiency or superimposed pulmonary infections. With neonatal respiratory support and renal replacement therapies, the long-term survival of these infants has improved to greater than 80%. As advances in renal replacement therapy and kidney transplantation improve long-term survival, it is likely that clinical hepatobiliary disease will become a major feature of the natural history of ARPKD. In addition, a subset of individuals with this disorder are identified with hepatosplenomegaly; the renal disease is often mild and may be discovered incidentally during imaging studies of the abdomen. Approximately 50% of infants will have clinical evidence of liver involvement at diagnosis although histologic hepatic fibrosis is invariably present at birth. This can lead to progressive portal hypertension with resulting esophageal or gastric varices, enlarged hemorrhoids, splenomegaly, hypersplenism, protein-losing enteropathy, and gastrointestinal bleeding. Other hepatic findings include nonobstructed dilatation of the intrahepatic bile ducts (Caroli syndrome) and dilatation of the common bile duct, which may lead to recurrent or persistent bacterial ascending cholangitis due to dilated bile ducts and stagnant bile flow. An increasing number of affected individuals surviving the neonatal period will eventually require portosystemic shunting or liver transplantation for complications of portal hypertension or cholangitis. The classic neonatal presentation of ARPKD notwithstanding, there is significant variability in age and presenting clinical symptoms related to the relative degree of renal and biliary abnormalities.
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
MedGen UID:
1682503
Concept ID:
C5191055
Disease or Syndrome
The two forms of deoxyguanosine kinase (DGUOK) deficiency are a neonatal multisystem disorder and an isolated hepatic disorder that presents later in infancy or childhood. The majority of affected individuals have the multisystem illness with hepatic disease (jaundice, cholestasis, hepatomegaly, and elevated transaminases) and neurologic manifestations (hypotonia, nystagmus, and psychomotor retardation) evident within weeks of birth. Those with isolated liver disease may also have renal involvement and some later develop mild hypotonia. Progressive hepatic disease is the most common cause of death in both forms.
Bile acid malabsorption, primary, 2
MedGen UID:
1794172
Concept ID:
C5561962
Disease or Syndrome
Primary bile acid malabsorption-2 (PBAM2) is an autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease (Sultan et al., 2018). For discussion of genetic heterogeneity of primary bile acid malabsorption, see PBAM1 (613291).
Cholestasis, progressive familial intrahepatic, 6
MedGen UID:
1794175
Concept ID:
C5561965
Disease or Syndrome
Progressive familial intrahepatic cholestasis-6 (PFIC6) is an autosomal recessive disorder characterized by elevated liver transaminases, cholestasis, and congenital diarrhea (Gao et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of PFIC, see PFIC1 (211600).

Professional guidelines

PubMed

Strauss E, Valla D
Clin Res Hepatol Gastroenterol 2014 Oct;38(5):564-9. Epub 2014 Feb 24 doi: 10.1016/j.clinre.2013.12.012. PMID: 24581591
Silva PC, Leal TV, Domingues AL
Rev Soc Bras Med Trop 2013 Jul-Aug;46(4):472-7. doi: 10.1590/0037-8682-0110-2013. PMID: 23982100
Ruiz-Guevara R, de Noya BA, Valero SK, Lecuna P, Garassini M, Noya O
Rev Soc Bras Med Trop 2007 Sep-Oct;40(5):505-11. doi: 10.1590/s0037-86822007000500003. PMID: 17992403

Recent clinical studies

Etiology

Sugimoto K, Moriyasu F, Oshiro H, Takeuchi H, Abe M, Yoshimasu Y, Kasai Y, Sakamaki K, Hara T, Itoi T
Radiology 2020 Sep;296(3):532-540. Epub 2020 Jun 23 doi: 10.1148/radiol.2020192665. PMID: 32573385
Lambertucci JR
Rev Soc Bras Med Trop 2014 Mar-Apr;47(2):130-6. Epub 2014 Apr 11 doi: 10.1590/0037-8682-0186-2013. PMID: 24861284
Hovnanian A, Hoette S, Fernandes CJ, Jardim C, Souza R
Int J Clin Pract Suppl 2010 Jan;(165):25-8. doi: 10.1111/j.1742-1241.2009.02234.x. PMID: 19958397
Colombo C
Curr Opin Pulm Med 2007 Nov;13(6):529-36. doi: 10.1097/MCP.0b013e3282f10a16. PMID: 17901760
Brunt EM, Janney CG, Di Bisceglie AM, Neuschwander-Tetri BA, Bacon BR
Am J Gastroenterol 1999 Sep;94(9):2467-74. doi: 10.1111/j.1572-0241.1999.01377.x. PMID: 10484010

Diagnosis

Pozza G, Samardzic N, Giudici F, Casagranda B, DE Manzini N, Palmisano S
Minerva Med 2023 Feb;114(1):29-34. Epub 2021 Nov 11 doi: 10.23736/S0026-4806.21.07665-5. PMID: 34761883
Hashim A, Berzigotti A
J Ultrasound Med 2021 Nov;40(11):2273-2287. Epub 2021 Jan 15 doi: 10.1002/jum.15623. PMID: 33448437
Colley DG, Bustinduy AL, Secor WE, King CH
Lancet 2014 Jun 28;383(9936):2253-64. Epub 2014 Apr 1 doi: 10.1016/S0140-6736(13)61949-2. PMID: 24698483Free PMC Article
Manzella A, Ohtomo K, Monzawa S, Lim JH
Abdom Imaging 2008 Mar-Apr;33(2):144-50. doi: 10.1007/s00261-007-9329-7. PMID: 17912583
Colombo C
Curr Opin Pulm Med 2007 Nov;13(6):529-36. doi: 10.1097/MCP.0b013e3282f10a16. PMID: 17901760

Therapy

Liang Y, Khandakar B, Hao Y, Xiong Y, Liu BL, Zhang X
Ann Diagn Pathol 2023 Dec;67:152178. Epub 2023 Jul 12 doi: 10.1016/j.anndiagpath.2023.152178. PMID: 37468373
Thompson MD, Hinrichs H, Faerber A, Tarr PI, Davidson NO
J Lipid Res 2022 May;63(5):100205. Epub 2022 Mar 25 doi: 10.1016/j.jlr.2022.100205. PMID: 35341737Free PMC Article
Sargent JE, Dardas TF, Smith JW, Pal JD, Cheng RK, Masri SC, Shively KR, Colyer LM, Mahr C, Mokadam NA
J Thorac Cardiovasc Surg 2016 Jan;151(1):230-5. Epub 2015 Aug 29 doi: 10.1016/j.jtcvs.2015.08.073. PMID: 26421983
Colley DG, Bustinduy AL, Secor WE, King CH
Lancet 2014 Jun 28;383(9936):2253-64. Epub 2014 Apr 1 doi: 10.1016/S0140-6736(13)61949-2. PMID: 24698483Free PMC Article
Colombo C
Curr Opin Pulm Med 2007 Nov;13(6):529-36. doi: 10.1097/MCP.0b013e3282f10a16. PMID: 17901760

Prognosis

Liang Y, Khandakar B, Hao Y, Xiong Y, Liu BL, Zhang X
Ann Diagn Pathol 2023 Dec;67:152178. Epub 2023 Jul 12 doi: 10.1016/j.anndiagpath.2023.152178. PMID: 37468373
Hashim A, Berzigotti A
J Ultrasound Med 2021 Nov;40(11):2273-2287. Epub 2021 Jan 15 doi: 10.1002/jum.15623. PMID: 33448437
Lambertucci JR
Rev Soc Bras Med Trop 2014 Mar-Apr;47(2):130-6. Epub 2014 Apr 11 doi: 10.1590/0037-8682-0186-2013. PMID: 24861284
Colombo C
Curr Opin Pulm Med 2007 Nov;13(6):529-36. doi: 10.1097/MCP.0b013e3282f10a16. PMID: 17901760
Akhan O, Karaosmanoğlu AD, Ergen B
Eur J Radiol 2007 Jan;61(1):18-24. Epub 2006 Dec 11 doi: 10.1016/j.ejrad.2006.11.007. PMID: 17164079

Clinical prediction guides

Liang Y, Khandakar B, Hao Y, Xiong Y, Liu BL, Zhang X
Ann Diagn Pathol 2023 Dec;67:152178. Epub 2023 Jul 12 doi: 10.1016/j.anndiagpath.2023.152178. PMID: 37468373
Hashim A, Berzigotti A
J Ultrasound Med 2021 Nov;40(11):2273-2287. Epub 2021 Jan 15 doi: 10.1002/jum.15623. PMID: 33448437
Sargent JE, Dardas TF, Smith JW, Pal JD, Cheng RK, Masri SC, Shively KR, Colyer LM, Mahr C, Mokadam NA
J Thorac Cardiovasc Surg 2016 Jan;151(1):230-5. Epub 2015 Aug 29 doi: 10.1016/j.jtcvs.2015.08.073. PMID: 26421983
Andrade ZA, Santana TS
Mem Inst Oswaldo Cruz 2010 Jul;105(4):436-9. doi: 10.1590/s0074-02762010000400013. PMID: 20721486
Brunt EM, Janney CG, Di Bisceglie AM, Neuschwander-Tetri BA, Bacon BR
Am J Gastroenterol 1999 Sep;94(9):2467-74. doi: 10.1111/j.1572-0241.1999.01377.x. PMID: 10484010

Recent systematic reviews

Malik A, Malik S, Farooq A, Malik MI, Javaid S
Sci Prog 2024 Jul-Sep;107(3):368504241264996. doi: 10.1177/00368504241264996. PMID: 39053026Free PMC Article
Ockenden ES, Frischer SR, Cheng H, Noble JA, Chami GF
PLoS Negl Trop Dis 2024 Mar;18(3):e0012033. Epub 2024 Mar 20 doi: 10.1371/journal.pntd.0012033. PMID: 38507368Free PMC Article
Dodamani MH, Memon SS, Karlekar M, Lila AR, Khan M, Sarathi V, Arya S, Jamale T, Thakare S, Patil VA, Shah NS, Bergwitz C, Bandgar TR
Calcif Tissue Int 2024 Feb;114(2):137-146. Epub 2023 Nov 19 doi: 10.1007/s00223-023-01156-2. PMID: 37981601
Andrade G, Bertsch DJ, Gazzinelli A, King CH
PLoS Negl Trop Dis 2017 Feb;11(2):e0005372. Epub 2017 Feb 17 doi: 10.1371/journal.pntd.0005372. PMID: 28212414Free PMC Article
Pavlov CS, Casazza G, Semenistaia M, Nikolova D, Tsochatzis E, Liusina E, Ivashkin VT, Gluud C
Cochrane Database Syst Rev 2016 Mar 2;3(3):CD011602. doi: 10.1002/14651858.CD011602.pub2. PMID: 26934429Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...