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Colestase intra-hepática progressiva familiar tipo 2
ORPHA:79304CID-10 · K76.8CID-11 · 5C58.03OMIM 601847DOENÇA RARA

A colestase intra-hepática familiar progressiva tipo 2 (PFIC2), um tipo de colestase intra-hepática familiar progressiva (PFIC), é um distúrbio hereditário neonatal grave na formação da bile de origem hepatocelular e não associado a características extra-hepáticas. Inicialmente, a PFIC2 foi relatada sob o nome de síndrome de Byler.

Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

📋

A colestase intra-hepática familiar progressiva tipo 2 (PFIC2), um tipo de colestase intra-hepática familiar progressiva (PFIC), é um distúrbio hereditário neonatal grave na formação da bile de origem hepatocelular e não associado a características extra-hepáticas. Inicialmente, a PFIC2 foi relatada sob o nome de síndrome de Byler.

Publicações científicas
112 artigos
Último publicado: 2026 Feb
Medicamentos
1 registrados
ODEVIXIBAT

Tem tratamento?

1 medicamento registrado
Ver detalhes, fases e interações →
ODEVIXIBAT

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
1-9 / 100 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Europe
Início
Infancy
+ neonatal
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: K76.8
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🫃
Digestivo
6 sintomas
📏
Crescimento
1 sintomas
🦴
Ossos e articulações
1 sintomas

+ 8 sintomas em outras categorias

Características mais comuns

Diarreia
Hepatomegalia
Esplenomegalia
Hiperbilirrubinemia conjugada
Carcinoma hepatocelular
Concentração elevada de fosfatase alcalina circulante
16sintomas
Sem dados (16)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 16 características clínicas mais associadas, ordenadas por frequência.

DiarreiaDiarrhea
HepatomegaliaHepatomegaly
EsplenomegaliaSplenomegaly
Hiperbilirrubinemia conjugadaConjugated hyperbilirubinemia
Carcinoma hepatocelularHepatocellular carcinoma

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico112PubMed
Últimos 10 anos69publicações
Pico20169 papers
Linha do tempo
2026Hoje · 2026🧪 2010Primeiro ensaio clínico📈 2016Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.

ABCB11Bile salt export pumpDisease-causing germline mutation(s) (loss of function) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Apical cell membraneRecycling endosome membraneEndosomeCell membrane

VIAS BIOLÓGICAS (2)
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolRecycling of bile acids and salts
MECANISMO DE DOENÇA

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.

OUTRAS DOENÇAS (3)
progressive familial intrahepatic cholestasis type 2benign recurrent intrahepatic cholestasis type 2intrahepatic cholestasis of pregnancy
HGNC:42UniProt:O95342

Medicamentos e terapias

ODEVIXIBATPhase 3

Mecanismo: Ileal bile acid transporter inhibitor

Ver mais no OpenTargets

Variantes genéticas (ClinVar)

451 variantes patogênicas registradas no ClinVar.

🧬 ABCB11: NM_003742.4(ABCB11):c.2611-13T>G ()
🧬 ABCB11: NM_003742.4(ABCB11):c.1552del (p.Tyr518fs) ()
🧬 ABCB11: NM_003742.4(ABCB11):c.2611-2A>G ()
🧬 ABCB11: NM_003742.4(ABCB11):c.1198-8C>A ()
🧬 ABCB11: NM_003742.4(ABCB11):c.3347del (p.Gly1116fs) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 521 variantes classificadas pelo ClinVar.

130
391
Patogênica (25.0%)
VUS (75.0%)
VARIANTES MAIS SIGNIFICATIVAS
ABCB11: NM_003742.4(ABCB11):c.3347del (p.Gly1116fs) [Likely pathogenic]
ABCB11: NM_003742.4(ABCB11):c.1549C>T (p.Arg517Cys) [Likely pathogenic]
ABCB11: NM_003742.4(ABCB11):c.3355A>G (p.Lys1119Glu) [Likely pathogenic]
ABCB11: NM_003742.4(ABCB11):c.3422G>T (p.Gly1141Val) [Likely pathogenic]
ABCB11: NM_003742.4(ABCB11):c.3579del (p.Lys1193fs) [Likely pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 33
Medicamentos catalogadosEnsaios clínicos· 1 medicamento · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Colestase intra-hepática progressiva familiar tipo 2

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

3 ensaios clínicos encontrados.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
69 papers (10 anos)
#1

Bortezomib Therapy in Autoimmune-BSEP Disease After Liver Transplantation: Case Report With Review of the Literature.

Journal of clinical and experimental hepatology2026

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.

#2

Pretreatment serum bile acid composition and predictability of subsequent response to odevixibat in patients with bile salt export pump (BSEP) deficiency.

Hepatology (Baltimore, Md.)2026 Apr 01

Bile salt export pump (BSEP) deficiency, or progressive familial intrahepatic cholestasis type 2, is a genetic liver disease characterized by defective biliary bile acid secretion. Odevixibat, an ileal bile acid transporter inhibitor (IBATi), impairs intestinal reabsorption of conjugated bile acids, reducing serum bile acid (sBA) concentration in some patients with BSEP deficiency. We evaluated the association of pretreatment sBA levels and composition, as well as the subsequent response to odevixibat in patients with BSEP deficiency, to improve our understanding of the mechanism. In this blinded post hoc analysis, pretreatment sBAs from 41 odevixibat-treated patients with BSEP deficiency who participated in PEDFIC were analyzed using liquid chromatography-tandem mass spectrometry. Patients were divided into sBA responders (Rs) and non-responders (NRs). Association of pretreatment individual sBAs with subsequent response was evaluated, and receiver operating characteristic (ROC) curves were constructed to identify discriminating cutoff values. Rs had higher pretreatment percentages of unconjugated cholic acid [CA; area under the ROC curve (AUC): 0.70 (95% CI: 0.52-0.87; p =0.03)], unconjugated chenodeoxycholic acid [CDCA; AUC: 0.73 (0.56-0.90); p =0.01], and concentration of CA + CDCA [AUC: 0.76 (0.61-0.92); p =0.001]. When ≥1 of 3 cutoffs were reached, 36/41 (87.8%) patients with BSEP deficiency were correctly classified as subsequent Rs (17/19; sensitivity: 89.5%) or NRs (19/22; specificity: 86.4%). Higher pretreatment serum levels of unconjugated CA and CDCA are associated with subsequent response to odevixibat in patients with BSEP deficiency. Response to odevixibat may be related to residual biliary bile acid secretion capacity in patients with BSEP deficiency.

#3

Long-Term Management of Recurrent Antibody-Induced Bile Salt Export Pump Deficiency After Liver Transplantation Using Therapeutic Plasma Exchange.

Journal of clinical apheresis2026 Feb

Progressive Familial Intrahepatic Cholestasis type 2 (PFIC-2) is a rare autosomal recessive liver disorder caused by ABCB11 mutations impairing the bile salt export pump (BSEP). Liver transplantation is typically considered curative; however, a subset of patients develop antibody-induced BSEP deficiency (AIBD), a rare post-transplant complication driven by recipient IgG antibodies against graft BSEP. Patients often present with recurrent cholestasis and graft dysfunction. Therapeutic plasma exchange (TPE) is increasingly used to remove circulating antibodies, often alongside immunomodulatory therapies. We describe a patient with PFIC-2 who developed four distinct AIBD relapses over a 24-year period, beginning 12 years after transplantation. Each relapse was treated with a coordinated regimen including TPE, intravenous immunoglobulin (IVIg), rituximab, and optimized maintenance immunosuppression. TPE procedures were performed using the Spectra Optia system with one plasma volume exchange using citrate anticoagulation. Across all relapses, TPE was associated with rapid reductions in cholestatic markers, with the greatest improvements noted after apheresis initiation. TPE procedure intensity evolved over time, with earlier initiation and a gradual increase in the total number of exchanges per relapse. Biopsies demonstrated progressive cholestatic injury, yet graft function remained preserved and re-transplantation was avoided. Adverse events were infrequent and managed conservatively. This case highlights the potential role of early and sustained use of TPE as part of a multimodal strategy for managing recurrent AIBD. Consistent clinical and biochemical improvement across relapses supports incorporating TPE with immunosuppression and B-cell targeted therapy in similar presentations. Further studies are needed to clarify optimal timing, frequency, and treatment combinations.

#4

Correction of a Traffic-Defective Missense ABCB11 Variant Responsible for Progressive Familial Intrahepatic Cholestasis Type 2.

International journal of molecular sciences2025 May 29

Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a severe hepatocellular cholestasis due to biallelic variations in the ABCB11 (ATP-binding cassette B11) gene encoding the canalicular bile salt export pump (BSEP). Some missense variants identified in patients with PFIC2 do not traffic properly to the canalicular membrane. However, 4-phenybutyrate (4-PB) has been shown in vitro to partially correct the mis-trafficking of selected variants, resulting in an improvement of the medical conditions of corresponding PFIC2 patients. Herein, we report the ability of 4-PB analogous or homologous drugs and of non-4-PB related chemical correctors to rescue the canalicular expression and the activity of the folding-defective Abcb11R1128C variant. New compounds, either identified by screening a chemical library or designed by structural homology with 4-PB (or its metabolites) and synthesized, were evaluated in vitro for their ability to (i) correct the canalicular localization of Abcb11R1128C after transfection in hepatocellular polarized cell lines; (ii) restore the 3H-taurocholate transport of the Abcb11R1128C protein in Madin-Darby canine kidney (MDCK) cells stably co-expressing Abcb11 and the sodium taurocholate co-transporting polypeptide (Ntcp/Slc10A1). Glycerol phenylbutyrate (GPB), phenylacetate (PA, the active metabolite of 4-PB), 3-hydroxy-2-methyl-4-phenylbutyrate (HMPB, a 4-PB metabolite analog chemically synthesized in our laboratory) and 4-oxo-1,2,3,4-tetrahydro-naphthalene-carboxylate (OTNC, from the chemical library screening) significantly increased the proportion of canalicular Abcb11R1128C protein. GPB, PA, ursodeoxycholic acid (UDCA), alone or in combination with 4-PB, suberoylanilide hydroxamic acid (SAHA), C18, VX-445, and/or VX-661, significantly corrected both the traffic and the activity of Abcb11R1128C. Such correctors could represent new pharmacological insights for improving the condition of patients with ABCB11 deficiency due to missense variations affecting the transporter's traffic.

#5

Retraction: Progressive Familial Intrahepatic Cholestasis Type 2 in an Infant: Diagnostic Challenges and Multidisciplinary Management.

Cureus2025 Oct

[This retracts the article DOI: 10.7759/cureus.76355.].

Publicações recentes

Ver todas no PubMed

📚 EuropePMC31 artigos no totalmostrando 67

2026

Long-Term Management of Recurrent Antibody-Induced Bile Salt Export Pump Deficiency After Liver Transplantation Using Therapeutic Plasma Exchange.

Journal of clinical apheresis
2026

Bortezomib Therapy in Autoimmune-BSEP Disease After Liver Transplantation: Case Report With Review of the Literature.

Journal of clinical and experimental hepatology
2025

Exploring Maralixibat for Treatment-Resistant Pruritus in Intrahepatic Cholestasis of Pregnancy and Primary Biliary Cholangitis: A Case Report.

The American journal of case reports
2025

Case Report: Genetic predisposition to low-dose NSAID-induced liver injury in real-world China.

Frontiers in medicine
2026

Pretreatment serum bile acid composition and predictability of subsequent response to odevixibat in patients with bile salt export pump (BSEP) deficiency.

Hepatology (Baltimore, Md.)
2025

An ABCB11 variant registry and novel knockin mouse model of PFIC2 based on the clinically relevant ABCB11 E297G variant.

Journal of lipid research
2025

A structural and mechanistic model for BSEP dysfunction in PFIC2 cholestatic disease.

Communications biology
2024

Progressive Familial Intrahepatic Cholestasis Type 2 in an Infant: Diagnostic Challenges and Multidisciplinary Management.

Cureus
2024

Hepatocellular carcinoma associated with progressive intrahepatic familial cholestasis type 2: a case report.

Clinical transplantation and research
2024

The spectrum of novel ABCB11 gene variations in children with progressive familial intrahepatic cholestasis type 2 in Pakistani cohorts.

Scientific reports
2024

Clinical symptoms, biochemistry, and liver histology during the native liver period of progressive familial intrahepatic cholestasis type 2.

Orphanet journal of rare diseases
2024

Plasma Concentration of Antifungal Agent Micafungin for Pediatric Living Donor Liver Transplantation.

Transplantation proceedings
2023

Cell-based BSEP trans-inhibition: A novel, non-invasive test for diagnosis of antibody-induced BSEP deficiency.

JHEP reports : innovation in hepatology
2023

Iterative antibody-induced bile salt export pump deficiency after successive liver transplantations successfully treated with plasmapheresis and rituximab.

Clinics and research in hepatology and gastroenterology
2023

Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency.

JHEP reports : innovation in hepatology
2022

ABO-incompatible Pediatric Liver Transplantation With Antibody and B-cell Depletion-free Immunosuppressive Protocol in High Consanguinity Communities.

Transplantation direct
2022

In Vitro Rescue of the Bile Acid Transport Function of ABCB11 Variants by CFTR Potentiators.

International journal of molecular sciences
2022

Progressive Familial Intrahepatic Cholestasis Type 2 and Recurrence After Liver Transplantation: A Case Report.

Transplantation proceedings
2022

Antisense oligonucleotides rescue an intronic splicing variant in the ABCB11 gene that causes progressive familial intrahepatic cholestasis type 2.

Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
2022

Seventeen Years of Pediatric Liver Transplantation Experience for Cirrhosis and Hepatocellular Carcinoma.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation
2022

A study of exons 14, 15, and 24 of the ABCB11 gene in Egyptian children with normal GGT cholestasis.

Arab journal of gastroenterology : the official publication of the Pan-Arab Association of Gastroenterology
2021

In vitro functional rescue by ivacaftor of an ABCB11 variant involved in PFIC2 and intrahepatic cholestasis of pregnancy.

Orphanet journal of rare diseases
2021

Clinical spectrum of chronic liver disease with final outcome in children at a tertiary centre: A single - centre study.

Pakistan journal of medical sciences
2021

Transient hyperphosphatasemia following pediatric liver transplantation in a patient with hepatic and skeletal abnormalities.

Clinica chimica acta; international journal of clinical chemistry
2020

Glibenclamide, ATP and metformin increases the expression of human bile salt export pump ABCB11.

F1000Research
2021

[Clinical characteristics and gene variants of patients with infantile intrahepatic cholestasis].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2021

The Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies.

International journal of molecular sciences
2020

Graft outflow vein venoplasty for a laparoscopically harvested left lateral section graft in pediatric living donor liver transplantation.

Korean journal of transplantation
2021

Pharmacological Premature Termination Codon Readthrough of ABCB11 in Bile Salt Export Pump Deficiency: An In Vitro Study.

Hepatology (Baltimore, Md.)
2022

Coexistence of Three Different Mutations in a Male Infant: neurofibromatosis Type 1, Progressive Familial Intrahepatic Cholestasis Type 2 and LPIN3.

Fetal and pediatric pathology
2020

Treatment of rickets and dyslipidemia in twins with progressive familial intrahepatic cholestasis type 2.

International journal of pediatric endocrinology
2020

Glycerol Phenylbutyrate Therapy in Progressive Familial Intrahepatic Cholestasis Type 2.

Journal of pediatric gastroenterology and nutrition
2020

Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency.

Liver international : official journal of the International Association for the Study of the Liver
2020

Changes in plasma bile acid profiles after partial internal biliary diversion in PFIC2 patients.

Annals of translational medicine
2021

Clinical profiles and diagnostic challenges in 1158 children with rare hepatobiliary disorders.

Pediatric research
2020

Successful Treatment with Rituximab and Immunoadsorption for an Auto-Antibody Induced Bile Salt Export Pump Deficiency in a Liver Transplanted Patient.

Pediatric gastroenterology, hepatology &amp; nutrition
2019

Long-term follow-up in children with progressive familial intrahepatic cholestasis type 2 after partial external biliary diversion with focus on histopathological features.

Polish journal of pathology : official journal of the Polish Society of Pathologists
2020

Phenotype-Genotype Correlation of North Indian Progressive Familial Intrahepatic Cholestasis type2 Children Shows p.Val444Ala and p.Asn591Ser Variants and Retained BSEP Expression.

Fetal and pediatric pathology
2019

Diagnostic Yield of an Algorithm for Neonatal and Infantile Cholestasis Integrating Next-Generation Sequencing.

The Journal of pediatrics
2019

Beyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations.

Pediatrics
2020

Drugs and hepatic transporters: A review.

Pharmacological research
2019

First report of successful transplantation of a pediatric donor liver graft after hypothermic machine perfusion.

Pediatric transplantation
2019

Two Cases of Progressive Familial Intrahepatic Cholestasis Type 2: Role of Surgery with Brief Review of Literature.

Journal of Indian Association of Pediatric Surgeons
2019

Hydrophilic bile acids prevent liver damage caused by lack of biliary phospholipid in Mdr2-/- mice.

Journal of lipid research
2018

Surgical management of children and adolescents with upfront completely resected hepatocellular carcinoma.

Pediatric blood &amp; cancer
2018

Clinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.

Journal of human genetics
2018

Zebrafish abcb11b mutant reveals strategies to restore bile excretion impaired by bile salt export pump deficiency.

Hepatology (Baltimore, Md.)
2017

Post-transplant Recurrent Bile Salt Export Pump Disease: A Form of Antibody-mediated Graft Dysfunction and Utilization of C4d.

Journal of pediatric gastroenterology and nutrition
2017

Partial external biliary diversion in bile salt export pump deficiency: Association between outcome and mutation.

World journal of gastroenterology
2017

Progressive Familial Intrahepatic Cholestasis Type 2 in an Indian Child.

Journal of pediatric genetics
2017

A Rare BSEP Mutation Associated with a Mild Form of Progressive Familial Intrahepatic Cholestasis Type 2.

Annals of hepatology
2017

Generation of a bile salt export pump deficiency model using patient-specific induced pluripotent stem cell-derived hepatocyte-like cells.

Scientific reports
2016

Liver Transplantation as a Treatment for Severe Refractory Vitamin E Deficiency Related to Progressive Familial Intrahepatic Cholestasis Type 2 in a Pediatric Patient.

ACG case reports journal
2016

Recurrence of Progressive Familial Intrahepatic Cholestasis Type 2 Phenotype After Living-donor Liver Transplantation: A Case Report.

Transplantation proceedings
2016

[One case of progressive familial intrahepatic cholestasis type 2].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology
2016

Bipolar and Related Disorders Induced by Sodium 4-Phenylbutyrate in a Male Adolescent with Bile Salt Export Pump Deficiency Disease.

Psychiatry investigation
2016

Beneficial Effects of Sodium Phenylbutyrate Administration during Infection with Salmonella enterica Serovar Typhimurium.

Infection and immunity
2016

Visceral symptoms as a key diagnostic sign for the early infantile form of Niemann-Pick disease type C in a Russian patient: a case report.

Journal of medical case reports
2016

Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations.

Scientific reports
2016

Serum Autotaxin Activity Correlates With Pruritus in Pediatric Cholestatic Disorders.

Journal of pediatric gastroenterology and nutrition
2016

Bile salt export pump-reactive antibodies form a polyclonal, multi-inhibitory response in antibody-induced bile salt export pump deficiency.

Hepatology (Baltimore, Md.)
2015

Brucella infection in a child with progressive familial intrahepatic cholestasis type 2 who had undergone liver transplantation.

Pediatric transplantation
2015

Successful pregnancy after ileal exclusion in progressive familial intrahepatic cholestasis type 2.

Annals of hepatology
2015

Two Case Reports of Successful Treatment of Cholestasis With Steroids in Patients With PFIC-2.

Pediatrics
2015

Retargeting of bile salt export pump and favorable outcome in children with progressive familial intrahepatic cholestasis type 2.

Hepatology (Baltimore, Md.)
2015

Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: Evidence for improvement of cholestasis with 4-phenylbutyrate.

Hepatology (Baltimore, Md.)
2015

The mechanism of increased biliary lipid secretion in mice with genetic inactivation of bile salt export pump.

American journal of physiology. Gastrointestinal and liver physiology

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Colestase intra-hepática progressiva familiar tipo 2

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

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.

  1. Bortezomib Therapy in Autoimmune-BSEP Disease After Liver Transplantation: Case Report With Review of the Literature.
    Journal of clinical and experimental hepatology· 2026· PMID 41550713mais citado
  2. Pretreatment serum bile acid composition and predictability of subsequent response to odevixibat in patients with bile salt export pump (BSEP) deficiency.
    Hepatology (Baltimore, Md.)· 2026· PMID 40644308mais citado
  3. Long-Term Management of Recurrent Antibody-Induced Bile Salt Export Pump Deficiency After Liver Transplantation Using Therapeutic Plasma Exchange.
    Journal of clinical apheresis· 2026· PMID 41724715mais citado
  4. Correction of a Traffic-Defective Missense ABCB11 Variant Responsible for Progressive Familial Intrahepatic Cholestasis Type 2.
    International journal of molecular sciences· 2025· PMID 40508041mais citado
  5. Retraction: Progressive Familial Intrahepatic Cholestasis Type 2 in an Infant: Diagnostic Challenges and Multidisciplinary Management.
    Cureus· 2025· PMID 41446648mais citado
  6. Exploring Maralixibat for Treatment-Resistant Pruritus in Intrahepatic Cholestasis of Pregnancy and Primary Biliary Cholangitis: A Case Report.
    Am J Case Rep· 2025· PMID 41252338recente
  7. Case Report: Genetic predisposition to low-dose NSAID-induced liver injury in real-world China.
    Front Med (Lausanne)· 2025· PMID 40776909recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79304(Orphanet)
  2. OMIM OMIM:601847(OMIM)
  3. MONDO:0011156(MONDO)
  4. GARD:1288(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q60195065(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

Colestase intra-hepática progressiva familiar tipo 2
Compêndio · Raras BR

Colestase intra-hepática progressiva familiar tipo 2

ORPHA:79304 · MONDO:0011156
Prevalência
1-9 / 100 000
Herança
Autosomal recessive
CID-10
K76.8 · Outras doenças especificadas do fígado
CID-11
Medicamentos
1 registrados
Início
Infancy, Neonatal
Prevalência
0.0 (Europe)
MedGen
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