A colestase intra-hepática recorrente benigna (BRIC) é uma doença hepática hereditária caracterizada por episódios intermitentes de colestase intra-hepática, geralmente sem progressão para lesão hepática crônica. Acredita-se agora que o BRIC pertence a um espectro clínico de distúrbios colestáticos intra-hepáticos que varia desde ataques intermitentes leves no BRIC até a colestase grave, crônica e progressiva observada na colestase intra-hepática familiar progressiva (PFIC).
Introdução
O que você precisa saber de cara
A colestase intra-hepática recorrente benigna (BRIC) é uma doença hepática hereditária caracterizada por episódios intermitentes de colestase intra-hepática, geralmente sem progressão para lesão hepática crônica. Acredita-se agora que o BRIC pertence a um espectro clínico de distúrbios colestáticos intra-hepáticos que varia desde ataques intermitentes leves no BRIC até a colestase grave, crônica e progressiva observada na colestase intra-hepática familiar progressiva (PFIC).
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
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Características mais comuns
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
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.
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.
Medicamentos e terapias
Mecanismo: Ileal bile acid transporter inhibitor
Variantes genéticas (ClinVar)
700 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 267 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
4 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 recorrente benigna
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Publicações mais relevantes
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.
Enigmatic functions of ATP8B1: cholestasis, inflammation, phosphoinositide flipping, and cellular homeostasis.
Mutations in ATP8B1 cause a spectrum of cholestatic liver disease, ranging from Progressive-Familial-Intrahepatic-Cholestasis type-1 (PFIC1) to Benign-Recurrent-Intrahepatic-Cholestasis type-1 (BRIC1). Manifestations of PFIC1 include severe pruritus, jaundice, and liver damage. Extrahepatic features sometimes observed in PFIC1 include sensorineural hearing loss, diarrhea, pancreatitis, and short stature. ATP8B1 was shown to translocate phospholipids across the plasma membrane; however, expression of ATP8B1 in many tissues and the range of pathological manifestations in ATP8B1 deficiency suggest diverse physiological functions of ATP8B1, and pleiotropic mechanisms regulating its activity. Recent studies suggest that phosphoinositides, including PIP2 and PIP3, can function as regulators, substrates, and binding partners of ATP8B1. New research shows that ATP8B1 modulates host immune system by regulating cleavage of pyroptotic-executioner Gasdermin D (GSDMD), and inflammation-resolution pathways such as phagocytosis/efferocytosis. Further mechanistic insights can accelerate development of new therapies for restoring membrane integrity, reducing inflammasome activity, and correcting metabolic imbalances caused by ATP8B1 dysfunction.
Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Gene Mutation Complicated by Distal Renal Tubular Acidosis: A Case Report.
Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by intermittent jaundice episodes. We report a 25-year-old male patient with numerous hospitalizations for jaundice. The diagnosis of BRIC type 1 was established by liver biopsy, genetic analysis, and the exclusion of alternative etiologies of cholestasis. A novel missense heterozygous variant was identified in the ATP8B1 gene (c.2081T>A). The acute cholestatic attack, along with associated complications such as distal renal tubular acidosis and acute pancreatitis, was successfully managed with plasmapheresis and rifampicin. Novel mutations that differ from those documented in the literature in combination with renal tubular acidosis may enhance our comprehension of this topic.
Plasmapheresis can improve clinical outcomes in patients with therapy resistant benign recurrent intrahepatic cholestasis: A case report.
Due to the rarity of benign recurrent intrahepatic cholestasis (BRIC), limited literature exists regarding the therapeutic benefit of plasmapheresis, particularly in the context of severe hyperbilirubinemia. A 25-year-old female presented with jaundice and severe pruritus. Laboratory findings revealed a total bilirubin of 37 mg/dL and a direct bilirubin of 27 mg/dL. Alanine aminotransferase (ALT) was 31 U/L, aspartate aminotransferase (AST) was 35 U/L, and alkaline phosphatase was 175 U/L. The patient had a five-year history of recurrent episodes, previously resolving spontaneously or with medical treatment. Following liver biopsy diagnosis and failure of conventional therapy, she underwent plasmapheresis on alternate days. Four sessions of one plasma volume exchange, using albumin, were performed concurrently with medical treatment. The patient demonstrated rapid and significant improvement in pruritus and urine color, with no adverse events or need for fresh frozen plasma. Total bilirubin decreased progressively to 5 mg/dL, and direct bilirubin to 4 mg/dL. Plasmapheresis appears to be a beneficial adjunct therapy for refractory BRIC, effectively reducing bilirubin levels and alleviating pruritus. This intervention may improve patient quality of life and potentially prevent renal complications associated with hyperbilirubinemia, serving as a bridge to liver transplantation, if necessary.
A sporadic case of benign recurrent intrahepatic cholestasis in a growth-impaired young male.
Benign recurrent intrahepatic cholestasis (BRIC) is a rare genetic liver disorder characterized by recurrent episodes of jaundice and severe pruritus without significant liver damage. Here, we present the case of a man in his early 20s, standing 143 cm tall, who has experienced recurrent jaundice and pruritus over an 18-year period. Laboratory investigations and liver biopsy examination indicated typical intrahepatic cholestasis with normal gamma-glutamyl transpeptidase levels, excluding viral, metabolic, and autoimmune causes. Further genetic analysis confirmed the diagnosis of BRIC with two compound heterozygous mutations in ATP8B1 gene on chromosome 18: NM_001374385.1: c.2081T > C p. (Ile694Thr) (rs541474497) in exon 18 and NC_000018.10 (NM_001374385.1): c.1631-2A > G in intron 15. To our knowledge, the latter has not been reported. Family lineage analysis and Sanger sequencing showed that these mutations were de novo rather than hereditary. Treatment with ursodeoxycholic acid and cholestyramine resulted in complete resolution of jaundice and pruritus, with normalization of serum bilirubin level after six months of therapy.
Publicações recentes
Baseline analysis of patient reported outcomes in the progressive familial intrahepatic cholestasis patient registry.
Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion-novel findings and literature review.
Enigmatic functions of ATP8B1: cholestasis, inflammation, phosphoinositide flipping, and cellular homeostasis.
Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Gene Mutation Complicated by Distal Renal Tubular Acidosis: A Case Report.
📚 EuropePMC141 artigos no totalmostrando 81
Baseline analysis of patient reported outcomes in the progressive familial intrahepatic cholestasis patient registry.
Journal of pediatric gastroenterology and nutritionCase Report: Mild BRIC-like cholestasis despite a gross USP53 deletion-novel findings and literature review.
Frontiers in geneticsEnigmatic functions of ATP8B1: cholestasis, inflammation, phosphoinositide flipping, and cellular homeostasis.
Cell cycle (Georgetown, Tex.)Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Gene Mutation Complicated by Distal Renal Tubular Acidosis: A Case Report.
Case reports in gastroenterologyNext-Generation Sequencing in Diagnosis of Monogenic Cholestatic Liver Disorders: A Single-Center Experience.
Molecular syndromologyOdevixibat for Episodic Intrahepatic Cholestasis due to Biallelic Mutations in ATP8B1: A Case Series.
Liver international : official journal of the International Association for the Study of the LiverUse of maralixibat in severe and recurrent intrahepatic cholestasis of pregnancy with concurrent benign recurrent intrahepatic cholestasis.
Journal of hepatologyMolecular Advances in Cholestatic Liver Diseases.
Advances in anatomic pathologyEarly-onset intrahepatic cholestasis of pregnancy resulting from a genetic mutation: A case report.
Case reports in women's healthPlasmapheresis can improve clinical outcomes in patients with therapy resistant benign recurrent intrahepatic cholestasis: A case report.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for HaemapheresisA sporadic case of benign recurrent intrahepatic cholestasis in a growth-impaired young male.
Science progressEarly plasmapheresis in type 2 benign recurrent intrahepatic cholestasis: A case report and review of literature.
World journal of hepatologyHepatoprotective Effects of Cilnidipine in Cholestatic Liver Disease: Role of FXR and NRF2 Signalling.
Journal of experimental pharmacologyRecurrent Jaundice Unraveled: A Case of Benign Recurrent Intrahepatic Cholestasis (BRIC) in an Indian Patient.
CureusA Novel Compound Heterozygous Mutation in Progressive Familial Intrahepatic Cholestasis (PFIC) 4: A Rare Case Report With Literature Review.
CureusCase Report: Intrahepatic cholestasis: a diagnostic dilemma.
Wellcome open researchAn Adult Case of Benign Recurrent Intrahepatic Cholestasis Due to MYO5B Deficiency.
The Tokai journal of experimental and clinical medicineA novel case report of benign recurrent intrahepatic cholestasis-associated USP53 genetic mutation in a Pakistani girl.
SAGE open medical case reportsDiagnosis and management of benign recurrent intrahepatic cholestasis and psychosocial stressors in an adolescent: A case report.
World journal of clinical casesA Rare Case of Benign Recurrent Intrahepatic Cholestasis Initially Diagnosed in Middle-age.
Alternative therapies in health and medicineA novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report.
The Turkish journal of pediatricsClinicopathologic Features, Genetics, Treatment, and Long-Term Outcomes in Japanese Children and Young Adults with Benign Recurrent Intrahepatic Cholestasis: A Multicenter Study.
Journal of clinical medicineCase report: A rare case of pyruvate kinase deficiency and Crigler-Najjar syndrome type II with a novel pathogenic variant of PKLR and UGT1A1 mutation.
Frontiers in genetics[One case of benign recurrent intrahepatic cholestasis type 2].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyImprovement of cholestatic episodes in patients with benign recurrent intrahepatic cholestasis (BRIC) treated with rifampicin. A long-term follow-up.
Scandinavian journal of gastroenterologyCase Report: A Rare Heterozygous ATP8B1 Mutation in a BRIC1 Patient: Haploinsufficiency?
Frontiers in medicineCase Report: A Rare Case of Benign Recurrent Intrahepatic Cholestasis-Type 1 With a Novel Heterozygous Pathogenic Variant of ATP8B1.
Frontiers in medicineBenign Recurrent Intrahepatic Cholestasis Type 1 with Novel Nonsense Mutations in the ATP8B1 Gene.
Case reports in gastroenterologyCoronavirus disease 2019 (COVID-19) as a potential trigger for benign recurrent intrahepatic cholestasis.
Clinical case reportsPrenatal Noninvasive Trio-WES in a Case of Pregnancy-Related Liver Disorder.
Diagnostics (Basel, Switzerland)Triggers of benign recurrent intrahepatic cholestasis and its pathophysiology: a review of literature.
Acta gastro-enterologica BelgicaBenign Recurrent Intrahepatic Cholestasis in Pregnancy: Fetal Death at 36 Weeks of Gestation.
Case reports in obstetrics and gynecologyCase Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1.
Frontiers in medicineCase Report: A Novel Single Variant TJP2 Mutation in a Case of Benign Recurrent Intrahepatic Cholestasis.
JPGN reportsBenign recurrent intrahepatic cholestasis - 2 (BRIC-2)/ABCB11 deficiency in a young child - Report from a tertiary care center in South India.
Indian journal of pathology & microbiologyBenign recurrent intrahepatic cholestasis type 2 in a child: A case report and novel mutation.
Turkish archives of pediatricsBenign Recurrent Intrahepatic Cholestasis - Unravelleing the Paradox.
Indian pediatricsThe Mystery of Episodic Recurrent Jaundice in a Young Male: Cholestasis With a Normal Gamma-Glutamyl Transferase.
CureusThe Bile Salt Export Pump: Molecular Structure, Study Models and Small-Molecule Drugs for the Treatment of Inherited BSEP Deficiencies.
International journal of molecular sciencesAssessment of Adenosine Triphosphatase Phospholipid Transporting 8B1 (ATP8B1) Function in Patients With Cholestasis With ATP8B1 Deficiency by Using Peripheral Blood Monocyte-Derived Macrophages.
Hepatology communicationsLong-Term Colestyramine Treatment Prevents Cholestatic Attacks in Refractory Benign Recurrent Intrahepatic Cholestasis Type 1 Disease.
Hepatology (Baltimore, Md.)Cholestasis Due to USP53 Deficiency.
Journal of pediatric gastroenterology and nutritionABCB11 deficiency presenting as transient neonatal cholestasis: Correlation with genotypes and BSEP expression.
Liver international : official journal of the International Association for the Study of the LiverHyperthyroidism as a Potential Trigger for Benign Recurrent Intrahepatic Cholestasis.
ACG case reports journalNew paradigms of USP53 disease: normal GGT cholestasis, BRIC, cholangiopathy, and responsiveness to rifampicin.
Journal of human geneticsCholestasis in Benign Recurrent Intrahepatic Cholestasis 2.
ACG case reports journalBenign Recurrent Intrahepatic Cholestasis (BRIC): An African Case Report.
Case reports in gastrointestinal medicineNonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature.
World journal of hepatologySuccessful treatment of a patient with benign recurrent intrahepatic cholestasis type 1 with albumin dialysis.
Artificial organsA Physiology-Based Model of Human Bile Acid Metabolism for Predicting Bile Acid Tissue Levels After Drug Administration in Healthy Subjects and BRIC Type 2 Patients.
Frontiers in physiologyGenetic Causes of Liver Disease: When to Suspect a Genetic Etiology, Initial Lab Testing, and the Basics of Management.
The Medical clinics of North AmericaGenetic contribution of ABCC2 to Dubin-Johnson syndrome and inherited cholestatic disorders.
Liver international : official journal of the International Association for the Study of the LiverClinical characteristics and genetic profiles of young and adult patients with cholestatic liver disease.
Revista espanola de enfermedades digestivasExpanding etiology of progressive familial intrahepatic cholestasis.
World journal of hepatologyA rare cause of a cholestatic jaundice in a North African teenager.
Liver international : official journal of the International Association for the Study of the LiverBeyond an Obvious Cause of Cholestasis in a Toddler: Compound Heterozygosity for ABCB11 Mutations.
PediatricsBenign Recurrent Intrahepatic Cholestasis Type 2 in Siblings with Novel ABCB11 Mutations.
Pediatric gastroenterology, hepatology & nutrition[Clinical and pathological features of inherited metabolic liver disease in adults].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyPercutaneous transgastral biliodigestive diversion as treatment option for benign recurrent intrahepatic cholestasis.
Liver international : official journal of the International Association for the Study of the Liver[Clinical characteristics and diagnosis of patients with benign recurrent intrahepatic cholestasis].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyNew Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications.
Canadian journal of gastroenterology & hepatologyClinical phenotype and molecular analysis of a homozygous ABCB11 mutation responsible for progressive infantile cholestasis.
Journal of human geneticsCan genetic testing guide the therapy of cholestatic pruritus? A case of benign recurrent intrahepatic cholestasis type 2 with severe nasobiliary drainage-refractory itch.
Hepatology communicationsBenign recurrent intrahepatic cholestasis (BRIC)-like episode associated with ATP8B1 variation underlying protracted cholestatic course of acute hepatitis E virus infection.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverGenetic Testing in Liver Disease: What to Order, in Whom, and When.
Clinics in liver diseaseGenetic determinants of cholangiopathies: Molecular and systems genetics.
Biochimica et biophysica acta. Molecular basis of diseaseEarly Diagnosis of ABCB11 Spectrum Liver Disorders by Next Generation Sequencing.
Pediatric gastroenterology, hepatology & nutritionEndoscopic nasobiliary drainage: an effective treatment option for benign recurrent intrahepatic cholestasis (BRIC).
BMJ case reportsCurrent and future therapies for inherited cholestatic liver diseases.
World journal of gastroenterologyClinical Variability After Partial External Biliary Diversion in Familial Intrahepatic Cholestasis 1 Deficiency.
Journal of pediatric gastroenterology and nutritionNasobiliary Drainage for Benign Recurrent Intrahepatic Cholestasis in Patients Refractory to Standard Therapy.
Clinical and investigative medicine. Medecine clinique et experimentaleBenign Recurrent Intrahepatic Cholestasis in a Young Adult.
Journal of clinical and diagnostic research : JCDRMolecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.
The Journal of pediatricsGenetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.
PloS oneSafety and efficacy of long-term nasobiliary drainage to treat intractable pruritus in cholestatic liver disease.
Frontline gastroenterologySuccessful treatment with 4-phenylbutyrate in a patient with benign recurrent intrahepatic cholestasis type 2 refractory to biliary drainage and bilirubin absorption.
Hepatology research : the official journal of the Japan Society of HepatologyPathophysiology and Diseases of the Proximal Pathways of the Biliary System.
Archives of pathology & laboratory medicine[P4-ATP-ase Atp8b1/FIC1: structural properties and (patho)physiological functions].
Bioorganicheskaia khimiiaATP8B1 and ATP11C: Two Lipid Flippases Important for Hepatocyte Function.
Digestive diseases (Basel, Switzerland)Progressive familial intrahepatic cholestasis.
Journal of clinical and experimental hepatologyCompound heterozygous mutations of ABCB11 responsible for benign recurrent intrahepatic cholestasis.
Journal of digestive diseasesAssociações
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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.
- Baseline analysis of patient reported outcomes in the progressive familial intrahepatic cholestasis patient registry.
- Enigmatic functions of ATP8B1: cholestasis, inflammation, phosphoinositide flipping, and cellular homeostasis.
- Benign Recurrent Intrahepatic Cholestasis Type 1 with Novel Gene Mutation Complicated by Distal Renal Tubular Acidosis: A Case Report.
- Plasmapheresis can improve clinical outcomes in patients with therapy resistant benign recurrent intrahepatic cholestasis: A case report.Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis· 2025· PMID 40483043mais citado
- A sporadic case of benign recurrent intrahepatic cholestasis in a growth-impaired young male.
- Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion-novel findings and literature review.
- Erratum to "A sporadic case of benign recurrent intrahepatic cholestasis in a growth-impaired young male".
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:65682(Orphanet)
- MONDO:0019008(MONDO)
- GARD:12185(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q2449937(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.
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