Colestase intra-hepática familiar progressiva (PFIC) refere-se a um grupo heterogêneo de doenças autossômicas recessivas da infância que interrompem a formação da bile e apresentam colestase de origem hepatocelular.
Introdução
O que você precisa saber de cara
Colestase intra-hepática familiar progressiva (PFIC) refere-se a um grupo heterogêneo de doenças autossômicas recessivas da infância que interrompem a formação da bile e apresentam colestase de origem hepatocelular.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 44 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 101 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
14 genes identificados com associação a esta condição. Padrão de herança: Autosomal recessive.
Plays a role in tight junctions and adherens junctions (By similarity). Acts as a positive regulator of RANKL-induced osteoclast differentiation, potentially via mediating downstream transcriptional activity (By similarity)
Cell junction, adherens junctionCell membraneCell junction, tight junctionNucleus
Hypercholanemia, familial, 1
A disorder characterized by elevated serum bile acid concentrations, itching, and fat malabsorption.
Ribosome biogenesis factor. Involved in nucleolar processing of pre-18S ribosomal RNA. Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associate with the nascent pre-rRNA and work in concert to generate RNA folding, modifications, rearrangements and cleavage as well as targeted d Involved in SSU pre-rRNA proce
Nucleus, nucleolusChromosome
Plays an important role in integrin-mediated signaling and functions both in regulating cell migration and immune responses. Promotes formation of focal adhesion complexes, activation of the protein kinase PTK2/FAK1 and subsequent phosphorylation of MAPK1 and MAPK3. Promotes production of pro-inflammatory cytokines by monocytes and macrophages. Plays an important role in modulating inflammation and T-cell-mediated immune responses. Promotes axon growth in the embryonic olfactory bulb. Promotes a
Cell membrane
Cholestasis, progressive familial intrahepatic, 11
An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease.
Key regulator of abscission step in cytokinesis: part of the cytokinesis checkpoint, a process required to delay abscission to prevent both premature resolution of intercellular chromosome bridges and accumulation of DNA damage. Together with CHMP4C, required to retain abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling is terminated at late cytokinesis. Deactivation of AURKB results in dephosphorylation of CHMP4C followed by its dissociation
Cytoplasm, cytoskeleton, microtubule organizing center, centrosomeCleavage furrowMidbody, Midbody ring
Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of phospholipids, in particular phosphatidylcholines (PC), from the outer to the inner leaflet of the plasma membrane (PubMed:17948906, PubMed:25315773). May participate in the establishment of the canalicular membrane integrity by ensuring asymmetric distribution of phospholipids in the canicular membrane (By similarity). Thus may have a role in the regulation of bile acids transpo
Cell membraneApical cell membraneCell projection, stereociliumEndoplasmic reticulumGolgi apparatus
Cholestasis, progressive familial intrahepatic, 1
A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC1 inheritance is autosomal recessive.
Essential component of the Ost-alpha/Ost-beta complex, a heterodimer that acts as the intestinal basolateral transporter responsible for bile acid export from enterocytes into portal blood (PubMed:16317684). Efficiently transports the major species of bile acids (taurocholate) (PubMed:16317684). Taurine conjugates are transported more efficiently across the basolateral membrane than glycine-conjugated bile acids (By similarity). Can also transport steroids such as estrone 3-sulfate and dehydroep
Cell membraneEndoplasmic reticulum membrane
Cholestasis, progressive familial intrahepatic, 6
An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC6 patients have elevated liver transaminases and congenital diarrhea.
May be involved in vesicular trafficking via its association with the CART complex. The CART complex is necessary for efficient transferrin receptor recycling but not for EGFR degradation. Required in a complex with RAB11A and RAB11FIP2 for the transport of NPC1L1 to the plasma membrane. Together with RAB11A participates in CFTR trafficking to the plasma membrane and TF (transferrin) recycling in nonpolarized cells. Together with RAB11A and RAB8A participates in epithelial cell polarization. Tog
Cytoplasm
Diarrhea 2, with microvillus atrophy, with or without cholestasis
A disease characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life.
Serine/threonine protein kinase that may be involved in the regulation of pre-mRNA processing. It may phosphorylate components of nuclear splice factor compartments (SFC), such as non-snRNP splicing factors containing a serine/arginine-rich domain (SR proteins). Reversible phosphorylation of SR proteins may cause their release into the nucleoplasm and change their local concentration, thereby influencing alternative splicing
Golgi apparatusCytoplasm, cytoskeleton, microtubule organizing center, centrosomeNucleus speckleEndoplasmic reticulum membraneCell membraneCytoplasm
Cholestasis, progressive familial intrahepatic, 13
A form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC13 is an autosomal recessive form characterized by progressive liver dysfunction and chronic renal failure often associated with unilateral renal agenesis and glomerulosclerosis.
Energy-dependent phospholipid efflux translocator that acts as a positive regulator of biliary lipid secretion. Functions as a floppase that translocates specifically phosphatidylcholine (PC) from the inner to the outer leaflet of the canalicular membrane bilayer into the canaliculi of hepatocytes. Translocation of PC makes the biliary phospholipids available for extraction into the canaliculi lumen by bile salt mixed micelles and therefore protects the biliary tree from the detergent activity o
Cell membraneApical cell membraneMembrane raftCytoplasmCytoplasmic vesicle, clathrin-coated vesicle
Cholestasis, progressive familial intrahepatic, 3
A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC3 inheritance is autosomal recessive.
Involved in the negative regulation of fatty acid biosynthesis, probably acting as an adapter that allows ubiquitination of acetyl-CoA carboxylase 1 (ACACA) by E3 ubiquitin-protein ligase COP1, and promotes ACACA degradation (PubMed:39920308). The adapter function requires the C-terminal proline-rich domain and may be apart from the kinesin motor activity (Probable)
Cytoplasm, cytoskeletonCell projection, cilium
Cholestasis, progressive familial intrahepatic, 8
An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. PFIC8 onset is in early infancy.
Ligand-activated transcription factor. Receptor for bile acids (BAs) such as chenodeoxycholic acid (CDCA), lithocholic acid, deoxycholic acid (DCA) and allocholic acid (ACA). Plays a essential role in BA homeostasis through the regulation of genes involved in BA synthesis, conjugation and enterohepatic circulation. Also regulates lipid and glucose homeostasis and is involved innate immune response (PubMed:10334992, PubMed:10334993, PubMed:21383957, PubMed:22820415). The FXR-RXR heterodimer binds
Nucleus
Catalyzes the transport of the major hydrophobic bile salts, such as taurine and glycine-conjugated cholic acid across the canalicular membrane of hepatocytes in an ATP-dependent manner, therefore participates in hepatic bile acid homeostasis and consequently to lipid homeostasis through regulation of biliary lipid secretion in a bile salts dependent manner (PubMed:15791618, PubMed:16332456, PubMed:18985798, PubMed:19228692, PubMed:20010382, PubMed:20398791, PubMed:22262466, PubMed:24711118, Pub
Apical cell membraneRecycling endosome membraneEndosomeCell membrane
Cholestasis, progressive familial intrahepatic, 2
A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC2 inheritance is autosomal recessive.
Deubiquitinase that mediates 'Lys-63'-linked deubiquitination of tight junction proteins, such as MARVELD2 and LSR, and which is involved in the survival of auditory hair cells and hearing (PubMed:32124521, PubMed:39587316). Specifically cleaves 'Lys-63'-linked polyubiquitin chains composed of at least 3 ubiquitin molecules, while it is not able to deubiquitinate substrates with shorter ubiquitin chains: recognizes ubiquitin chain in position S2 and catalyzes en bloc cleavage of polyubiquitin ch
Cell junction, tight junction
Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss
An autosomal recessive form of progressive cholestasis, a disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease. Some PFIC7 patients develop hearing loss in childhood.
May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Required for proper trafficking and targeting of the collagen-modifying enzyme lysyl hydroxylase 3 (LH3) to intracellular collagen (PubMed:28017832). Mediates phagolysosomal fusion in macrophages (PubMed:18474358). Proposed to be involved in endosomal maturation implicating VIPAS39. In epithelial cells, the VPS33B:VIPAS39 complex may play a role
Late endosome membraneLysosome membraneEarly endosomeCytoplasmic vesicle, clathrin-coated vesicleRecycling endosome
Arthrogryposis, renal dysfunction, and cholestasis 1
An autosomal recessive multisystem disorder with characteristics of congenital joint contractures, renal tubular dysfunction, neonatal cholestasis with bile duct hypoplasia and low gamma glutamyl transpeptidase activity, severe failure to thrive, ichthyosis, and a defect in platelet alpha-granule biogenesis. Most patients do not survive past the first year of life.
Medicamentos e terapias
Mecanismo: Ileal bile acid transporter inhibitor
Mecanismo: Ileal bile acid transporter inhibitor
Variantes genéticas (ClinVar)
378 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 931 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
25 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Colestase intra-hepática progressiva familiar
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
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Outros ensaios clínicos
32 ensaios clínicos encontrados, 11 ativos.
Publicações mais relevantes
Relevance of a macular phenotype characteristic of TJP2-related progressive familial intrahepatic cholestasis: a case report.
We report a case of macular cysts in a young patient carrying TJP2 deletion. She also presented neurosurgical history due to posterior malformative syndrome. This case could lead to systematic ophthalmic examination for patients presenting Progressive Familial Intrahepatic Cholestasis type 4.
ATP-binding Cassette Transporter Defects and Their Roles in Hepatic Diseases.
ATP-binding cassette (ABC) transporters are transmembrane proteins involved in the translocation of bilirubin, bile acids, phospholipids, and cholesterol into bile canaliculi. Mutations in particular genes encoding these transporters-including BSEP (ABCB11 gene), MDR3 (ABCB4 gene), sterolin-1 and sterolin-2 (ABCG5/8 genes), and MRP2 (ABCC2 gene)-result in a wide spectrum of liver diseases, ranging from benign conditions such as Dubin-Johnson syndrome to more severe presentations like progressive familial intrahepatic cholestasis. The severity of disease is influenced by many factors, including zygosity, mutation type, and environmental modifiers such as hormones, consanguinity, and founder effects. Homozygous and compound heterozygous mutations typically result in severe and early-onset diseases, while heterozygous single-allelic mutants generally result in milder diseases. Next-generation genetic testing has proven to have high diagnostic value and is important for prognostication. With knowledge of the underlying specific mutations, there is also potential for future targeted therapy for many severe diseases. The aim of this review is to update and discuss the hepatic diseases associated with ABC transporter mutations, the genetic and environmental effects that influence the severity of disease, typical presentations of these cholestatic hepatic diseases, diagnostic considerations, and treatment options.
Clinical spectrum and genotype-phenotype correlation of ABCB4 mutations in children: Insights from a North Indian cohort.
Progressive familial intrahepatic cholestasis type 3, caused by mutations in the ABCB4 gene, is a rare genetic disorder. Although severe phenotypes due to biallelic mutations are well described, emerging data seem to suggest the clinical relevance of monoallelic variants. To describe the clinical spectrum and genotype-phenotype correlation of ABCB4 mutations in children in a cohort of North Indian children. This is a retrospective analysis of a prospectively maintained database from a single tertiary care centre. Children (≤ 18 years) with ABCB4 mutations between January 2021 and March 2025 were analysed. The clinical presentation, laboratory investigations, genetic sequencing and outcomes were recorded. Patients were stratified into group 1 (homozygous/compound heterozygous) and group 2 (heterozygous). Variant pathogenicity was assessed using the American College of Medical Genetics guidelines and available predictive tools. Of the 26 patients, 16 had biallelic mutations, and 10 had monoallelic mutations. Group 1 exhibited higher rates of positive family history (75% vs 30%, P = 0.04), ascites (43.2% vs 0%, P = 0.02), larger varices (40% vs 0%, P = 0.009), higher gamma glutamyl transferase levels (171 U/L vs 38 U/L, P = 0.007), and lower platelet counts (162 × 109/L vs 415 × 109/L, P = 0.007). Notably, two-thirds of patients in group 1 experienced disease progression, and one-third died during follow-up. Certain missense variants (e.g., c.2860T>C) and all nonsense variants were linked to rapid deterioration. Most children in group 2 had transient cholestasis with a good outcome, but two older children succumbed. Mutations in the ABCB4 gene contribute significantly to pediatric chronic liver disease. Patients with severe biallelic mutations frequently experience a progressive disease course, whereas those with monoallelic mutations may progress slowly. Genetic testing for ABCB4 should be considered in children with cryptogenic chronic liver disease, especially those with high gamma-glutamyltransferase cholestasis and portal hypertension.
Baseline analysis of patient reported outcomes in the progressive familial intrahepatic cholestasis patient registry.
Progressive familial intrahepatic cholestasis (PFIC) is an overarching term for rare monogenic defects that result in cholestatic liver disease. Larger consortia-based registries have begun to address the challenges of PFIC as a rare disease with variable phenotype, but patient-reported outcomes (PROs) have not been extensively described. Here, we report baseline analysis from the PFIC network patient registry (PNPR), an effort to report outcome measures identified as meaningful and impactful to those living with the disease. The PNPR is a prospective, international, voluntary patient registry collecting longitudinal PROs relevant to PFIC and its complications, including diagnosis, symptoms, surgeries, medications as well as validated measures related to itch, sleep, and general health (patient-reported outcomes measurement information system [PROMIS] measures), disease impact on family quality of life (QoL), and financial burden of the disease. Baseline data from 161 international patients were included. Registrants included patients affected by several subtypes and benign recurrent intrahepatic cholestasis, and 19 participants with an unknown or missing diagnosis. Pruritus is an important contributor to morbidity with severity of itch positively correlating with sleep disturbance and sleep impairment and negatively correlating with family QoL and overall health. The financial burden of disease was reflected by higher out-of-pocket medical costs and more reported challenges arranging medical care compared to the general US population. The PNPR fills a previously identified gap in PFIC research-the lack of PROs-and reveals the negative impact of disease and pruritus on patient and family function, QoL indicators, finances, and measures of general health.
Bortezomib Therapy in Autoimmune-BSEP Disease After Liver Transplantation: Case Report With Review of the Literature.
Progressive familial intrahepatic cholestasis type 2 (PFIC-2) is a rare autosomal recessive disorder caused by mutations in the ABCB11 gene, which encodes the bile salt export pump (BSEP). Liver transplantation is the standard treatment for end-stage liver disease in PFIC-2; however, recurrence in the form of autoimmune BSEP disease (AIBD) is a recognized posttransplant complication. AIBD is characterized by cholestasis with normal gamma-glutamyl transpeptidase, severe pruritus, and the presence of anti-BSEP antibodies. We report a case of a PFIC-2 patient who developed recurrent cholestasis and pruritus three years posttransplant. Liver biopsy revealed canalicular cholestasis and giant cell transformation, while BSEP staining on immunohistochemistry was preserved. Serological testing confirmed anti-BSEP antibody positivity. Despite aggressive therapy including plasmapheresis, intravenous immunoglobulin, and rituximab, only partial improvement was achieved, and cholestasis persisted. Given the refractory nature of the disease, bortezomib-a proteasome inhibitor targeting antibody-producing plasma cells-was administered. The patient demonstrated complete clinical and biochemical resolution following bortezomib therapy. This case highlights the diagnostic complexity of AIBD and the potential role of bortezomib in cases unresponsive to conventional immunosuppressive therapies. Early diagnosis and personalized immunomodulation remain key to improving outcomes in this rare but challenging condition.
Publicações recentes
Functional inactivation of MDR3 caused by a homozygous ABCB4 missense variant leading to liver failure.
Bile acid detergency as determinant of liver pathology in a humanized mouse model of progressive familial intrahepatic cholestasis type 3.
Pathology of Progressive Familial Intrahepatic Cholestasis: An update.
Farnesoid x Receptor Deficiency Promotes Hepatocytic Injury in Cyp2c70-Deficient Mice With a Human-Like Bile Acid Composition.
Review Article: Ileal Bile Acid Transport (IBAT) Inhibitors as an Emerging Treatment for Cholestatic Liver Disease.
📚 EuropePMC401 artigos no totalmostrando 192
Cholestatic liver disease in an adolescent: don't forget progressive familial intrahepatic Cholestasis-8.
Oxford medical case reportsBeyond the Pump: The Evolving Molecular Landscape of Intrahepatic Cholestasis.
Diagnostics (Basel, Switzerland)Case Report: A rare case of familial progressive cholestasis type 10 in an adult with heterozygous MYO5B variant.
Frontiers in gastroenterology (Lausanne, Switzerland)Defining the Contribution of Genetic Variants in MRGPRX4 With Pruritus in Paediatric Cholestasis: Evidence From Case-Control Study.
Liver international : official journal of the International Association for the Study of the Liver[Clinical features and genetic analysis of a child with Progressive familial intrahepatic cholestasis type 8 due to compound heterozygous variants of KIF12 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsRelevance of a macular phenotype characteristic of TJP2-related progressive familial intrahepatic cholestasis: a case report.
Clinics and research in hepatology and gastroenterologyRemarkable Response to Odevixibat in an Adult With Progressive Familial Intrahepatic Cholestasis Type 1 and Intractable Pruritus.
ACG case reports journalFamilial intrahepatic cholestasis: consensus recommendations for healthcare professionals in Latin America.
Boletin medico del Hospital Infantil de MexicoMolecular characterisation of the trafficking rescue of defective ABCB4 variants by roscovitine analogues.
Scientific reportsLong-Term Management of Recurrent Antibody-Induced Bile Salt Export Pump Deficiency After Liver Transplantation Using Therapeutic Plasma Exchange.
Journal of clinical apheresisRelevance of a macular phenotype characteristic of TJP2-related progressive familial intrahepatic cholestasis : A case report.
Clinics and research in hepatology and gastroenterologyPediatric Cholestatic Diseases in the Era of Ileal Bile Acid Transporter (IBAT) Inhibitors.
Pediatric reportsATP-binding Cassette Transporter Defects and Their Roles in Hepatic Diseases.
Journal of clinical and translational hepatologyIleal Bile Acid Transporter Inhibitors in Cholestasis: Potential for More Than Just Paediatrics?
Liver international : official journal of the International Association for the Study of the LiverClinical spectrum and genotype-phenotype correlation of ABCB4 mutations in children: Insights from a North Indian cohort.
World journal of hepatologyEvaluation of miRNA Expression in Pediatric Cirrhosis Caused by BA and PFIC.
BioMed research internationalBaseline analysis of patient reported outcomes in the progressive familial intrahepatic cholestasis patient registry.
Journal of pediatric gastroenterology and nutritionA Rare Nonsense Mutation in the ABCB4 Gene Associated with Progressive Familial Intrahepatic Cholestasis Type 3: A Case Report.
Journal of clinical medicineDiagnostic challenges in progressive familial intrahepatic cholestasis type 3 (PFIC3) misdiagnosed as Wilson's disease: A systematic review.
Advances in clinical and experimental medicine : official organ Wroclaw Medical UniversityBortezomib Therapy in Autoimmune-BSEP Disease After Liver Transplantation: Case Report With Review of the Literature.
Journal of clinical and experimental hepatologyUncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
International journal of molecular sciencesDonor Inferior Mesenteric Vein as a Conduit for Segment IV Venous Reconstruction in Pediatric LDLT: A Case Report.
Pediatric transplantationCase Report: Sustained biochemical remission following early initiation of odevixibat in an infant with monoallelic ABCB11 mutation and histologically confirmed PFIC2.
Frontiers in pediatricsCase Report: Mild BRIC-like cholestasis despite a gross USP53 deletion-novel findings and literature review.
Frontiers in geneticsEnantiomeric Resolution of Odevixibat via Immobilized Polysaccharide Columns: Impact of NP, RP, and PO Modes on LC-MS-Compatible Method Design.
ChiralityABCB4 disease-causing variants S242R, S346I, T437I and T1077M significantly impair its function and display differential sensitivity to potentiators.
Scientific reportsAn overview of paediatric autoimmune and genetic cholestatic liver disease for the adult physician.
Clinical medicine (London, England)Exploring Maralixibat for Treatment-Resistant Pruritus in Intrahepatic Cholestasis of Pregnancy and Primary Biliary Cholangitis: A Case Report.
The American journal of case reports[Clinical phenotype and genetic analysis of a child with Progressive familial intrahepatic cholestasis type 8 due to compound heterozygous variants of KIF12 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsRare liver diseases - Etiology, diagnosis and management: A review.
Biomolecules & biomedicineUnfolding the genetic map of monogenic liver diseases in Egypt.
Human geneticsProgressive familial intrahepatic cholestasis type 5 due to a novel mutation in the NR1H4 gene.
BMC pediatricsLifesaving re-transplantation with liver paired exchange donor.
Hepatology forumPediatric Liver Diseases: Next-Generation Therapies.
Clinics in liver diseaseCirrhotic cardiomyopathy in children with biliary atresia and genetic intrahepatic cholestasis: clinical course and outcomes.
Hepatology internationalEnigmatic functions of ATP8B1: cholestasis, inflammation, phosphoinositide flipping, and cellular homeostasis.
Cell cycle (Georgetown, Tex.)Classic galactosemia in the differential diagnosis of neonatal low gammaglutamyltransferase cholestasis.
Acta gastro-enterologica Belgica[Genetic analysis of a child with Progressive familial intrahepatic cholestasis type II due to a homozygous variant of ABCB11 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsOdevixibat after liver transplant in patients with progressive familial intrahepatic cholestasis type 1: A case series.
Journal of pediatric gastroenterology and nutritionComprehensive overview of progressive familial intrahepatic cholestasis type 3 and the importance of pruritus as a diagnostic clue.
BMJ case reportsA farnesoid X receptor T296I variant disrupts ligand-induced FXR activation and thus bile acid transport in progressive familial intrahepatic cholestasis.
The Journal of biological chemistryIleal bile acid transporter inhibitors in Alagille syndrome and Progressive Familial Intrahepatic Cholestasis: A systematic review into dose-response.
British journal of clinical pharmacologyTransplant Without Borders: Clinical Outcomes and Challenges in Transborder Living Donor Pediatric Liver Transplantation in Jordan.
Therapeutics and clinical risk managementThe role of LSR gene variants in early onset intrahepatic cholestasis: a case series with treatment options.
Frontiers in pediatricsDiagnostic approaches for infants with cholestatic liver diseases: Position paper and perspectives of the Federation of International Societies of Pediatric Gastroenterology, Hepatology, and Nutrition.
Journal of pediatric gastroenterology and nutritionLaparoscopic Partial Internal Biliary Diversion for Progressive Familial Intrahepatic Cholestasis.
Journal of Indian Association of Pediatric SurgeonsATP8B1 Deficiency Causes Phosphodiesterase 4-Mediated Glucagon Resistance and Impaired Gluconeogenesis in Mouse and Human Liver.
Liver international : official journal of the International Association for the Study of the LiverA novel mechanism involving USP53-regulated BSEP trafficking underlies low-GGT intrahepatic cholestasis.
Hepatology (Baltimore, Md.)The evolving landscape of pediatric hepatology: key updates and future directions.
Current opinion in pediatricsCase Report: Genetic predisposition to low-dose NSAID-induced liver injury in real-world China.
Frontiers in medicineNext-Generation Sequencing in Diagnosis of Monogenic Cholestatic Liver Disorders: A Single-Center Experience.
Molecular syndromologyDiagnostic Yield of Whole Exome Sequencing in Adult-onset Cholestatic Liver Disease.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological AssociationNew hope in treating progressive familial intrahepatic cholestasis in children.
World journal of hepatologyA prediction model for genetic cholestatic disease in infancy using the machine learning approach.
Journal of pediatric gastroenterology and nutritionOne Family with Cholestasis: The Twisted Road to the Diagnosis of Pfic 3-Three Case Reports.
Reports (MDPI)A novel homozygous NR1H4 mutation in idiopathic elevated transaminases.
Archivos argentinos de pediatriaGenetic Variants and Long-Term Outcomes in Korean Children with Progressive Familial Intrahepatic Cholestasis.
Pediatric gastroenterology, hepatology & nutritionLipolysis-Stimulated Lipoprotein Receptor Gene Variants as a Cause of Progressive Familial Intrahepatic Cholestasis: A Case Report.
Hepatology research : the official journal of the Japan Society of HepatologyPretreatment serum bile acid composition and predictability of subsequent response to odevixibat in patients with bile salt export pump (BSEP) deficiency.
Hepatology (Baltimore, Md.)[Clinical and genetic analysis of a Chinese pedigree with autosomal recessive familial intrahepatic cholestasis type I due to a novel variant of ATP8B1 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsIndirect Comparison of Maralixibat and Odevixibat for the Treatment of Progressive Familial Intrahepatic Cholestasis.
Clinical therapeuticsClinical and Genetic Spectra of Progressive Familial Intrahepatic Cholestasis With Normal GGT: 31 Pediatric Patients and 16 Novel Variants.
Clinical geneticsMolecular Advances in Cholestatic Liver Diseases.
Advances in anatomic pathologyAn ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.
Journal of lipid researchGeneration of an iPSC line (DPNJMUi002-A) from a progressive familial intrahepatic cholestasis 3 (PFIC3) patient with a heterozygous mutation in the ABCB4 gene.
Stem cell researchLiver-specific Nr1h4 deletion in mice with human-like bile acid composition causes severe liver injury.
Journal of lipid researchFood and Drug Administration Approval Summary: Odevixibat (Bylvay) for the Treatment of Pruritus With Progressive Familial Intrahepatic Cholestasis.
Gastro hep advancesNovel ATP8B1 gene mutation in a family with progressive familial intrahepatic cholestasis.
BMJ case reportsATP8B1 regulates PIP2 localization and cleavage of pyroptotic executioner Gasdermin D.
Proceedings of the National Academy of Sciences of the United States of AmericaImmunohistochemistry in Progressive Familial Intrahepatic Cholestasis (PFIC): Bridging Gap Between Morphology and Genetics.
Journal of clinical and experimental hepatologyOdevixibat therapy in progressive familial intrahepatic cholestasis with MYO5B variants: a retrospective case series.
Orphanet journal of rare diseasesNeonatal Cholestasis: Exploring Genetic Causes and Clinical Outcomes.
Journal of paediatrics and child healthClinical and molecular genetic characteristics of pediatric PFIC3 patients: three novel variants and prognosis for parental liver transplantation.
Orphanet journal of rare diseasesA structural and mechanistic model for BSEP dysfunction in PFIC2 cholestatic disease.
Communications biologyReal-world experience with odevixibat in children with progressive familial intrahepatic cholestasis.
JHEP reports : innovation in hepatologyA liver-specific mouse model for MYO5B-associated cholestasis reveals a toxic gain-of-function as underlying disease mechanism.
Biochemical and biophysical research communicationsNovel ABCB4 mutation in a female patient with progressive familial intrahepatic cholestasis type 3: a case report and literature review.
Annals of medicine and surgery (2012)Pruritus in Chronic Cholestatic Liver Diseases, Especially in Primary Biliary Cholangitis: A Narrative Review.
International journal of molecular sciencesInternal biliary diversion using appendix during liver transplantation for progressive familial intrahepatic cholestasis type 1: A case report.
World journal of gastrointestinal surgeryIn Vitro-In Silico Models to Elucidate Mechanisms of Bile Acid Disposition and Cellular Aerobics in Human Hepatocytes.
The AAPS journalGenotypes and different clinical variants between children and adults in progressive familial intrahepatic cholestasis: a state-of-the-art review.
Orphanet journal of rare diseasesOdevixibat treatment in a child with hypoplastic left heart syndrome and severe cholestatic pruritus: a case report.
Frontiers in pediatricsClinical features and long-term outcomes of patients with ZFYVE19 variants.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverFrom chelation to transplantation: lessons from a progressive familial intrahepatic cholestasis type 3 case initially managed as Wilson's disease.
Gastroenterology reportProgressive Familial Intrahepatic Cholestasis Type 2 in an Infant: Diagnostic Challenges and Multidisciplinary Management.
CureusRecent advances in the management of pediatric cholestatic liver diseases.
Journal of pediatric gastroenterology and nutritionEfficacy and Safety of Ileal Bile Acid Transport Inhibitors in Inherited Cholestatic Liver Disorders: A Meta-analysis of Randomized Controlled Trials.
Journal of clinical and experimental hepatologyPractical Considerations for Odevixibat Treatment in Patients with Progressive Familial Intrahepatic Cholestasis: A Single-Center Case Series.
Journal of clinical medicineA Novel Compound Heterozygous Mutation in Progressive Familial Intrahepatic Cholestasis (PFIC) 4: A Rare Case Report With Literature Review.
CureusPytheasDB: An open-access graphical database of clinical data on rare pediatric digestive diseases.
Intractable & rare diseases researchA Case of Progressive Familial Intrahepatic Cholestasis Type-3.
CureusZFYVE19 gene mutation: A novel variant of progressive familial intrahepatic cholestasis.
JPGN reportsA novel genetic variant associated with progressive familial intrahepatic cholestasis type 3: A case series.
JPGN reportsCase Report: Intrahepatic cholestasis: a diagnostic dilemma.
Wellcome open researchDiscovery and mechanism of K63-linkage-directed deubiquitinase activity in USP53.
Nature chemical biology[Clinical characteristics of ABCB4 gene variant-associated cholestatic liver disease in adults].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyIdentification of novel ABCB4 variants and genotype-phenotype correlation in progressive familial intrahepatic cholestasis type 3.
Scientific reports"Shared genes, different clinical challenges: A new likely pathogenic variant in the ABCB4 gene".
Clinics and research in hepatology and gastroenterologyProgressive Familial Intrahepatic Cholestasis Associated With Ubiquitin-Specific Peptidase 53 Gene Variant Presented with Acute-on-Chronic Liver Failure in Turkish Siblings.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationOverview of the Etiology, Pathology, and Prognosis of Giant Cell Hepatitis.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationNatural course and outcomes of children with ubiquitin-specific protease 53 (USP53)-related genetic chronic cholestasis.
Journal of pediatric gastroenterology and nutritionMicrovillous Inclusion Disease: An Exceedingly Rare Condition With a New Treatment.
ACG case reports journalNon-syndromic perspective on a unique progressive familial intrahepatic cholestasis variant: ZFYVE19 mutation.
The Turkish journal of pediatrics[Progress in the treatment of progressive familial intrahepatic cholestasis].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyHepatocellular carcinoma associated with progressive intrahepatic familial cholestasis type 2: a case report.
Clinical transplantation and researchExpanding the spectrum of progressive familial intrahepatic cholestasis: A report of 3 cases.
American journal of clinical pathologyApplication of liver biopsy in etiological diagnosis of unexplained portal hypertension: Porto-sinusoidal vascular disease should not be ignored.
MedicineMolecular alterations associated with pathophysiology in liver-specific ZO-1 and ZO-2 knockout mice.
Cell structure and functionProgressive familial intrahepatic cholestasis 3 Camouflaging as Wilson disease in a 12-year-old: a diagnostic Odyssey.
Gastroenterology and hepatology from bed to benchA Novel Variant (p.Leu1054Arg) in ABCB11 Presenting with Progressive Familial Intrahepatic Cholestasis (PFIC) with Congenital Hypothyroidism.
Indian journal of pediatricsProgressive familial intrahepatic cholestasis type 4: a case report.
Journal of medical case reportsFamilial intrahepatic cholestasis - An uncommon cause of jaundice in young patients.
Revista espanola de enfermedades digestivasNovel PLEC variants associated with infantile cholestasis.
Clinical geneticsOdevixibat as an adjunctive treatment for refractory pruritus in rare variants of cholestatic liver disease.
JPGN reportsThe spectrum of novel ABCB11 gene variations in children with progressive familial intrahepatic cholestasis type 2 in Pakistani cohorts.
Scientific reportsAbcb4-defect cholangitis mouse model with hydrophobic bile acid composition by in vivo liver-specific gene deletion.
Journal of lipid researchIBAT inhibitors in pediatric cholestatic liver diseases: Transformation on the horizon?
Hepatology (Baltimore, Md.)Identification of new correctors for traffic-defective ABCB4 variants by a high-content screening approach.
Communications biologyModified by the Innovative Drugs and Strategies-Pattern of Selected Indications for Pediatric Liver Transplantation.
Pediatric transplantationTransporter Proteins as Therapeutic Drug Targets-With a Focus on SGLT2 Inhibitors.
International journal of molecular sciencesWhat's new in pediatric genetic cholestatic liver disease: advances in etiology, diagnostics and therapeutic approaches.
Current opinion in pediatrics[Clinical phenotype and genotype analysis of progressive familial intrahepatic cholestasis type 3 caused by novel ABCB4 gene mutation].
Zhonghua er ke za zhi = Chinese journal of pediatricsTransplanting Livers in Young Children - Looking Back at 100 Cases.
Journal of Indian Association of Pediatric SurgeonsYoungest Living Donor Liver Transplant for End-Stage Liver Disease in a 6-Month-Old With a Novel Aggressive Mutation in KIF12 Gene.
Pediatric transplantationMagnetic resonance imaging features of progressive familial intrahepatic cholestasis type 3.
Radiologie (Heidelberg, Germany)Loss of the DNA-binding domain of the farnesoid X receptor gene causes severe liver and kidney injuries.
Biochemical and biophysical research communicationsMaralixibat in progressive familial intrahepatic cholestasis (MARCH-PFIC): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
The lancet. Gastroenterology & hepatologyParental liver transplantation for treating progressive familial intrahepatic cholestasis: Report of a rare case.
Asian journal of surgeryOdevixibat: A Novel Bile Salt Inhibitor Treatment for Pruritus in Progressive Familial Intrahepatic Cholestasis.
CureusNR1H4 disease: rapidly progressing neonatal intrahepatic cholestasis and early death.
Orphanet journal of rare diseases[Analysis of clinical characteristic of children with progressive familial intrahepatic cholestasis type 3].
Zhonghua er ke za zhi = Chinese journal of pediatricsClinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.
Orphanet journal of rare diseasesProgressive Familial Intrahepatic Cholestasis-2 Mimicking Non-accidental Injury.
ACG case reports journalEmerging drugs for the treatment of progressive familial intrahepatic cholestasis: a focus on phase II and III trials.
Expert opinion on emerging drugsMolecular Insights of Cholestasis in MDR2 Knockout Murine Liver Organoids.
Journal of proteome researchNR1H4 mutation and rapid progressive intrahepatic cholestasis in infancy: A case report and literature review.
Clinical case reportsSerum Transaminase Monitoring and Successful Treatment of ADHD With Dextroamphetamine in a Patient With Progressive Familial Intrahepatic Cholestasis Type 3: A Case Report and Literature Review.
Journal of clinical psychopharmacologyNewly Described Mutations of the UNC45A Gene in Infants with Jaundice and Pruritus.
Current pediatric reviewsHepatic artery vasospasm masquerading as early hepatic artery thrombosis in progressive familial intrahepatic cholestasis 3: a case report.
Clinical transplantation and researchThe Phospholipid Flippase ATP8B1 is Involved in the Pathogenesis of Ulcerative Colitis via Establishment of Intestinal Barrier Function.
Journal of Crohn's & colitisSimultaneous total internal biliary diversion during liver transplantation for progressive familial intrahepatic cholestasis type 1: Standard of care?
Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation SocietyClinical symptoms, biochemistry, and liver histology during the native liver period of progressive familial intrahepatic cholestasis type 2.
Orphanet journal of rare diseasesPlasma Concentration of Antifungal Agent Micafungin for Pediatric Living Donor Liver Transplantation.
Transplantation proceedingsDiagnostic algorithm for neonatal intrahepatic cholestasis integrating single-gene testing and next-generation sequencing in East Asia.
Journal of gastroenterology and hepatologyChallenges faced in establishing a pediatric liver transplant program in a lower-middle-income country with free healthcare service.
Pediatric transplantationGenetic cholestasis in children and adults.
Journal of hepatologyMolecular basis of progressive familial intrahepatic cholestasis 3. A proteomics study.
BioFactors (Oxford, England)Transcript selection for the genetic diagnosis of KIF12-associated progressive familial intrahepatic cholestasis.
Gastroenterology reportPediatric Cholestatic Diseases: Common and Unique Pathogenic Mechanisms.
Annual review of pathologyLow Gamma-Glutamyl Transferase Cholestasis in a Patient With X-Linked Myotubular Myopathy and Crohn's Disease.
ACG case reports journal[A case of progressive familial intrahepatic cholestasis (type 3) as an initial manifestation of cirrhosis-related gastrointestinal bleeding].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologySuccessful Use of Bortezomib for Recurrent Progressive Familial Intrahepatic Cholestasis Type II After Liver Transplantation: A Pediatric Case with a 9-Year Follow-Up.
Pediatric gastroenterology, hepatology & nutritionOpinion paper on the diagnosis and treatment of progressive familial intrahepatic cholestasis.
JHEP reports : innovation in hepatologyMolecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
Annals of human geneticsSevere Neonatal Presentation of Progressive Familial Intrahepatic Cholestasis Type 4 in an Omani Infant.
Sultan Qaboos University medical journalDiagnosis and management of Alagille and progressive familial intrahepatic cholestasis.
Hepatology communicationsNonoperative management of biliopleural fistula following living-donor liver transplantation: A case report.
Clinical case reportsPortal Hypertension in Children: A Tertiary Center Experience in Turkey.
Pediatric gastroenterology, hepatology & nutritionA Rare Case of Progressive Familial Intrahepatic Cholestasis Type 4: A Case Report and Literature Review.
CureusPaediatric research sets new standards for therapy in paediatric and adult cholestasis.
The Lancet. Child & adolescent healthThe First Korean Adult Case of Progressive Familial Intrahepatic Cholestasis Type 7 with Novel USP53 Splicing Variants by Next Generation Sequencing.
Yonsei medical journalA novel heterozygous deletion in ABCB4 gene in a Chinese family with intrahepatic cholestasis of pregnancy, neonatal hyperbilirubinemia, and cholelithiasis: Case reports and literature review.
Molecular genetics & genomic medicineManagement and outcomes after liver transplantation for progressive familial intrahepatic cholestasis: A systematic review and meta-analysis.
Hepatology communicationsOutcomes of 38 patients with PFIC3: Impact of genotype and of response to ursodeoxycholic acid therapy.
JHEP reports : innovation in hepatologyThe Mutational Landscape Of Genetic Cholestatic Diseases In Pakistani Children.
JPMA. The Journal of the Pakistan Medical AssociationLiver Transplantation for Hepatocellular Carcinoma in Patients with Inherited Metabolic Liver Diseases: A Single-Center Analysis.
The Turkish journal of gastroenterology : the official journal of Turkish Society of GastroenterologyOutcomes of pediatric liver transplantation for progressive familial intrahepatic cholestasis.
Pediatric transplantationMetallothionein: a game changer in histopathological diagnosis of Wilson disease.
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Journal of Indian Association of Pediatric SurgeonsABCB4 gene mutation-associated cirrhosis with systemic amyloidosis: A case report.
World journal of clinical casesVariable Intrafamilial Expression of ABCB4 Disease.
ACG case reports journalProgressive Familial Intrahepatic Cholestasis: A Descriptive Study in a Tertiary Care Center.
International journal of hepatologyTreatment with an ileal bile acid transporter inhibitor in patients with TJP2 deficiency.
Clinics and research in hepatology and gastroenterologyA female of progressive familial intrahepatic cholestasis type 3 caused by heterozygous mutations of ABCB4 gene and her cirrhosis improved after treatment of ursodeoxycholic acid: a case report.
BMC medical genomicsInterim results from an ongoing, open-label, single-arm trial of odevixibat in progressive familial intrahepatic cholestasis.
JHEP reports : innovation in hepatologyCell-based BSEP trans-inhibition: A novel, non-invasive test for diagnosis of antibody-induced BSEP deficiency.
JHEP reports : innovation in hepatologyOptimal liver transplant procedure in progressive familial intrahepatic cholestasis type 1 treated with biliary diversion or intestinal transplantation: Lessons learned from three cases treated with different approaches.
Pediatric transplantationOral findings in children with congenital cholestatic disease: A systematic review of case reports and case series.
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Children (Basel, Switzerland)Progressive familial intrahepatic cholestasis-outcome and time to transplant after biliary diversion according to genetic subtypes.
Frontiers in surgeryDiagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.
Hepatology internationalSystematic review: efficacy of therapies for cholestatic pruritus.
Therapeutic advances in gastroenterologyCholestatic Pruritus in Children: Conventional Therapies and Beyond.
BiologyOdevixibat Treatment of Alagille Syndrome: A Case Report.
JPGN reportsIterative antibody-induced bile salt export pump deficiency after successive liver transplantations successfully treated with plasmapheresis and rituximab.
Clinics and research in hepatology and gastroenterology[Clinical and genetic analysis of cases of progressive familial intrahepatic cholestasis type 3].
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JHEP reports : innovation in hepatologyType 3 of progressive familial intrahepatic cholestasis (PFIC-3): Case report.
Clinical case reportsChildhood Cholestatic Liver Diseases that Persist Into Adulthood: Lessons for the Adult Gastroenterologist.
Journal of clinical gastroenterologyCombining Panel-Based Next-Generation Sequencing and Exome Sequencing for Genetic Liver Diseases.
The Journal of pediatricsNative liver survival in bile salt export pump deficiency: results of a retrospective cohort study.
Hepatology communicationsAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Relevance of a macular phenotype characteristic of TJP2-related progressive familial intrahepatic cholestasis: a case report.
- ATP-binding Cassette Transporter Defects and Their Roles in Hepatic Diseases.
- Clinical spectrum and genotype-phenotype correlation of ABCB4 mutations in children: Insights from a North Indian cohort.
- Baseline analysis of patient reported outcomes in the progressive familial intrahepatic cholestasis patient registry.
- Bortezomib Therapy in Autoimmune-BSEP Disease After Liver Transplantation: Case Report With Review of the Literature.
- Functional inactivation of MDR3 caused by a homozygous ABCB4 missense variant leading to liver failure.
- Bile acid detergency as determinant of liver pathology in a humanized mouse model of progressive familial intrahepatic cholestasis type 3.
- Pathology of Progressive Familial Intrahepatic Cholestasis: An update.
- Farnesoid x Receptor Deficiency Promotes Hepatocytic Injury in Cyp2c70-Deficient Mice With a Human-Like Bile Acid Composition.
- Review Article: Ileal Bile Acid Transport (IBAT) Inhibitors as an Emerging Treatment for Cholestatic Liver Disease.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:172(Orphanet)
- MONDO:0015762(MONDO)
- GARD:15255(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q1018534(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
