A Doença de Caroli (DC) é uma condição rara do fígado, congênita (de nascença), caracterizada por dilatações em forma de cistos que não causam bloqueio nos canais da bile dentro do fígado e, raramente, nos que estão fora do fígado.
Introdução
O que você precisa saber de cara
A Doença de Caroli (DC) é uma condição rara do fígado, congênita (de nascença), caracterizada por dilatações em forma de cistos que não causam bloqueio nos canais da bile dentro do fígado e, raramente, nos que estão fora do fígado.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 15 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 33 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
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive, Not applicable.
Promotes ciliogenesis in renal epithelial cells and therefore participates in the tubules formation and/ or ensures the maintenance of the architecture of the lumen of the kidney (By similarity). Has an impact on cellular symmetry by ensuring correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly and by maintaining oriented cell division (OCD) during tubular elongation through planar cell polarity (PCP) pathway (PubMed:20554582). During epithe
Cell membraneCytoplasmCell projection, ciliumCytoplasm, cytoskeleton, cilium basal bodyCytoplasm, cytoskeleton, spindleChromosome, centromereApical cell membraneNucleusSecreted, extracellular exosomeSecretedEndoplasmic reticulumGolgi apparatus
Polycystic kidney disease 4, with or without polycystic liver disease
A severe form of polycystic kidney disease affecting the kidneys and, in some cases, the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. PKD4 inheritance is autosomal recessive.
Variantes genéticas (ClinVar)
1,797 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 7 variantes classificadas pelo ClinVar.
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 — Doença de Caroli
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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
Ensaios em destaque
Pesquisa e ensaios clínicos
3 ensaios clínicos encontrados.
Publicações mais relevantes
Localized cystic dilatation of the intrahepatic bile ducts as a distinct subtype of Caroli disease: a case report.
Caroli disease encompasses multiple distinct entities. We report two cases of localized cystic dilatation of the intrahepatic bile ducts exhibiting a unique morphology. Both patients were Japanese, diagnosed with a cyst in the liver prenatally (27 weeks' gestation) and at 3 months of age. The dilatation was limited to the anterior section branch and its first upstream branches, and the cystically dilated bile ducts abruptly connected to normal-sized ducts on both the upstream and downstream sides. One case transiently had debris in the dilated duct during the neonatal period, but did not present any symptoms. The patients have remained asymptomatic for 10 years (case 1) and 9 years (case 2). This case report presents a distinct entity separate from other forms of Caroli disease, namely, localized cystic dilatation of the intrahepatic bile ducts. In total, 12 cases, along with 10 similar cases from literature, were assessed.
Caroli disease associated with autosomal recessive polycystic kidney disease: CT imaging features of a case report.
Caroli disease (CD) is a rare congenital hepatobiliary disorder characterized by multifocal segmental dilatation of the intrahepatic bile ducts, which may involve the entire liver or only a specific region. This rare pathology is seen in a very small proportion of the global population. Clinical manifestations vary between individuals and may overlap with other hepatobiliary disorders, making diagnosis and management challenging. Due to limited understanding and experience, early diagnosis and intervention are crucial for improving survival. In our case, Caroli disease is associated with autosomal recessive polycystic kidney disease (ARPKD), both of which are autosomal recessive disorders most commonly found in infants and children, with survival into adulthood being rare.
Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.
Background/Objectives: Autosomal recessive polycystic kidney disease (ARPKD) is a severe ciliopathy caused by biallelic pathogenic variants in PKHD1, characterized by variable renal and hepatobiliary involvement. The widespread use of next-generation sequencing (NGS) has revealed a large number of rare PKHD1 variants, creating major challenges in distinguishing molecularly confirmed ARPKD from a broader spectrum of PKHD1-associated disease. Methods: We performed an integrated clinical and molecular analysis of 68 individuals referred for suspected ARPKD. Using phase-aware and family-informed ACMG classification, patients were stratified into three genetically defined groups: 40 with molecularly confirmed ARPKD (biallelic pathogenic, likely pathogenic or segregation-supported VUS-LP variants in trans), 10 with biallelic PKHD1 variants of uncertain pathogenicity, and 18 monoallelic carriers. Genotype-phenotype correlations were restricted to the molecularly confirmed ARPKD group. Results: Among the 40 molecularly confirmed ARPKD patients, 17 (42.5%) carried two loss-of-function (LoF) alleles, 16 (40%) carried one LoF allele, and 7 (17.5%) carried only non-LoF alleles. A strong allele-dose effect was observed. Neonatal or infantile onset occurred in 88% of LoF/LoF patients, compared with 56% of LoF/non-LoF and 29% of non-LoF/non-LoF individuals (p < 0.001). Progression to renal replacement therapy occurred in 65%, 31%, and 0% of patients (p = 0.002). In contrast, hepatobiliary disease was highly prevalent across all genotype classes and showed no significant association with LoF burden. Conclusions: Phase-aware and family-informed interpretation of PKHD1 variants distinguishes a molecularly confirmed ARPKD core from a broader PKHD1 variant spectrum. Within confirmed ARPKD, loss-of-function allele burden is the primary determinant of renal and perinatal severity, whereas hepatic disease is largely independent of truncating allele burden. These findings refine diagnosis, prognosis, and genetic counseling in the genomic era.
Intrahepatic Versus Extrahepatic Biliary Tree Cysts: Outcomes after Surgical Resection in a Multicentric Study.
Biliary tree cysts (BTCs) are rare congenital dilatations of the bile ducts associated with an increased risk of acute cholangitis and cholangiocarcinoma (CCA). Over the past two decades, surgical resection has become the standard of care in the management of BTCs. The most widely accepted classification, introduced by Todani in 1977, is based on cyst morphology. However, from a surgical perspective, BTCs can also be categorized by location as intrahepatic, extrahepatic, or mixed. We conducted a retrospective analysis of 31 patients who underwent surgical resection for BTCs between 2005 and 2021 at two centers: Hospital de la Santa Creu i Sant Pau (Barcelona, Spain) and Ospedale San Paolo (Savona, Italy). Patients were divided into two groups based on cyst location: intrahepatic (IHG) and extrahepatic (EHG). Perioperative data, postoperative complications, oncological outcomes, and long-term survival were compared between groups. A total of 31 patients were included: 15 in the IHG and 16 in the EHG. Baseline characteristics were similar across groups. The median operative time was 196 minutes (range: 120-300) in the IHG and 156 minutes (range: 90-240) in the EHG (P = .073). There were no significant differences in postoperative complications. Median postoperative hospital stay was 12 days (range: 5-34) in the IHG and 18 days (range: 7-39) in the EHG (P = .123). After a median follow-up of 68 months, 26 patients (83.9%) were alive and in good clinical condition. Three patients died from causes unrelated to surgery, while 2 patients-both with histologically confirmed CCA-died from disease progression. No significant difference in overall survival was observed between the two groups (P = .192). Surgical resection of BTCs is safe and feasible. Perioperative outcomes and long-term survival are comparable between intrahepatic and extrahepatic BTCs, supporting surgery as an effective treatment regardless of cyst location.
Open resection of gastroduodenal artery aneurysm with fistulization into the duodenum 17 years after coil embolization in a patient with Caroli disease.
Gastroduodenal artery aneurysm (GDAA) is a very rare vascular condition with a high risk of fatal rupture. Coil embolization is the recommended treatment for GDAA. This is a unique case of a 57-year-old woman with autosomal recessive polycystic kidney disease requiring renal transplantation, and Caroli disease who presented with hemorrhage related to enteric fistulization of a GDAA 17 years after coil embolization. Unsuccessful endoscopic and endovascular management necessitated open surgical resection and omental patching. The patient had an uneventful recovery and is still alive without recurrence 3 years later.
Publicações recentes
Clinical outcomes in Caroli disease and Caroli syndrome: a longitudinal observational cohort study.
Localized cystic dilatation of the intrahepatic bile ducts as a distinct subtype of Caroli disease: a case report.
Caroli disease associated with autosomal recessive polycystic kidney disease: CT imaging features of a case report.
Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.
Intrahepatic Versus Extrahepatic Biliary Tree Cysts: Outcomes after Surgical Resection in a Multicentric Study.
📚 EuropePMC96 artigos no totalmostrando 158
Localized cystic dilatation of the intrahepatic bile ducts as a distinct subtype of Caroli disease: a case report.
Journal of medical case reportsCaroli disease associated with autosomal recessive polycystic kidney disease: CT imaging features of a case report.
Radiology case reportsNext-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.
GenesIntrahepatic Versus Extrahepatic Biliary Tree Cysts: Outcomes after Surgical Resection in a Multicentric Study.
Journal of laparoendoscopic & advanced surgical techniques. Part AOpen resection of gastroduodenal artery aneurysm with fistulization into the duodenum 17 years after coil embolization in a patient with Caroli disease.
Journal of vascular surgery cases and innovative techniquesRecommendations for management of pregnancy complicated by Caroli disease: A case report and literature review.
iLIVERGallstone Ileus Causing Mechanical Bowel Obstruction in a Patient With Caroli's Disease: A Case Report.
CureusSplenic artery embolization in a patient with advanced Caroli's syndrome complicated by portal hypertension: a case report.
Journal of medical case reportsA case of pregnancy complicated by caroli disease.
BMC pregnancy and childbirthPrenatal diagnosis and molecular characterization of PKHD1 variants in two Chinese fetuses with Caroli disease/syndrome.
Frontiers in geneticsPrenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification.
Prenatal diagnosisNon-infectious Hepatic Cystic Lesions: A Narrative Review.
Current medical imagingLiver Transplantation in Childhood: A 2-Year Single Center Experience.
Transplantation proceedingsHepatic Cyst Infection in a Hemodialysis Patient with Autosomal Dominant Polycystic Kidney Disease Complicated by Non-symptomatic Caroli Disease.
Internal medicine (Tokyo, Japan)[Variant anatomy of the gallbladder].
Khirurgiia[A case of congenital hepatic fibrosis accompanied with multiple system abnormalities].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologySurgical management of Caroli disease in a low-mid income country: a single-center study and review of literature.
BMC surgeryHepatic cysts: a survival guide.
Radiologia brasileiraRecurrent kidney stones in a young man with Caroli disease.
Kidney internationalPrenatal Diagnosis of Caroli's Disease by Ultrasound and MRI Imaging.
Prenatal diagnosisCystic lesions and their mimics involving the intrahepatic bile ducts and peribiliary space: diagnosis, complications, and management.
Abdominal radiology (New York)AIRE mutation in an elderly Caroli's patient with cholangitis and sepsis: a case report.
Journal of medical case reportsCaroli disease incidentally discovered in a 23-years old male: A case report.
Radiology case reportsOptimal transplant strategy of pediatric liver transplantation for fibropolycystic liver disease: Multicenter retrospective study in Japan.
Hepatology research : the official journal of the Japan Society of HepatologyHeritable Chronic Cholestatic Liver Diseases: A Review.
Journal of clinical and translational hepatologyAssociation of congenital hepatic fibrosis and Caroli's syndrome: Two illustrative cases.
Clinics and research in hepatology and gastroenterologyLiver Transplantation for Diffuse Form of Caroli Disease with Chronic Hepatitis B: A Case Report.
Transplantation proceedingsA case report of intrahepatic bile duct dilatation caused by WDR19 gene mutation and presented as Caroli syndrome.
Translational pediatricsCaroli's disease misdiagnosed as bile duct cystadenoma: A case report.
Journal of clinical ultrasound : JCUHistopathology and molecular pathology confirmed a diagnosis of atypical Caroli's syndrome: a case report.
Diagnostic pathologyShort-Term Outcome of Isolated Kidney Transplantation in Children with Autosomal Recessive Polycystic Kidney Disease: A Case Series and Literature Review.
Clinics and practiceA Unique Case of Caroli Disease in Kenya's Medical Landscape.
The American journal of case reportsCaroli disease combined with Banti syndrome in a woman: a case report.
The Journal of international medical researchCompound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report.
HeliyonCaroli disease with subcutaneous hemorrhage as the sole clinical manifestation: A case report.
MedicineAutosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management.
Advances in kidney disease and healthAtypical cystic hepatorenal disease in a 40-year-old female: What is the diagnosis? A nephrology zebra.
Journal of nephrologyEfficacy of rehabilitation initiated in the early phase after simultaneous deceased donor liver and kidney transplantation: A case report.
MedicineNirmatrelvir/ritonavir-induced elevation of blood tacrolimus levels in a patient in the maintenance phase post liver transplantation.
Journal of infection and chemotherapy : official journal of the Japan Society of ChemotherapyClinical, histopathological, and immunohistochemical spectrum of hepatolithiasis: a tertiary care center-based study from north India.
Virchows Archiv : an international journal of pathology[Caroli disease: optimizing the choice of surgical strategy using 3D modeling, 3D printing and therapy].
KhirurgiiaCaroli syndrome associated with atrial septal defect and polydactyly: a case report.
Journal of medical case reportsLiver transplantation for biliary cysts: perioperative and long-term outcomes.
HPB : the official journal of the International Hepato Pancreato Biliary AssociationAN 84-YEAR-OLD PATIENT WITH CAROLI SYNDROME: WHAT IS THE PROGNOSIS OF THIS CONDITION?
European journal of case reports in internal medicineFindings of cholangitis in a kidney transplant patient with Caroli disease on FDG PET/CT and MRI.
Radiology case reportsTransjugular intrahepatic portosystemic shunt for portal hypertension in a patient with Caroli disease.
Asian journal of surgeryRole of Cholangioscopy in a Patient With Hepatolithiasis and Caroli Disease.
ACG case reports journalABO-incompatible Pediatric Liver Transplantation With Antibody and B-cell Depletion-free Immunosuppressive Protocol in High Consanguinity Communities.
Transplantation direct[Introduction to the recommendations from the European Association for the Study of the Liver clinical practice guidelines on the management of cystic liver disease].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyDiagnosis and management of choledochal cysts.
HPB : the official journal of the International Hepato Pancreato Biliary AssociationHypersplenism caused by Caroli's disease.
Asian journal of surgery[Robotic Left Hepatectomy Using the Glissonean Pedicle Approach for the Treatment of Caroli's Syndrome].
Zentralblatt fur ChirurgieLiver Cancer Study Group of Japan Clinical Practice Guidelines for Intrahepatic Cholangiocarcinoma.
Liver cancerCaroli syndrome in a patient with psoriasis: A case report.
Asian journal of surgeryCaroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report.
Congenital anomalies[A case of Caroli's disease associated with intrahepatic cholangiocarcinoma].
Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterologyAn update on ductal plate malformations and fibropolycystic diseases of the liver.
Human pathologyEASL Clinical Practice Guidelines on the management of cystic liver diseases.
Journal of hepatologyRare variants in PKHD1 associated with Caroli syndrome: Two case reports.
Molecular genetics & genomic medicineCaroli's disease incidentally discovered in a 16-years-old female: a case report.
The Pan African medical journalImaging of fibropolycystic liver disease.
Abdominal radiology (New York)Esophagogastric variceal bleeding as a debut of Caroli's syndrome.
Revista espanola de enfermedades digestivasHeterotopic pancreas in the liver: a rare cause of recurrent attacks of cholangitis mimicking Caroli's disease.
Gastrointestinal endoscopyImmune-complex membranoproliferative glomerulonephritis in liver cirrhosis secondary to Caroli's disease: a multi-hit process?
International urology and nephrologyRepeated epigastric pain caused by Caroli's disease.
Asian journal of surgeryIncidental Detection of Caroli Syndrome With Unusual Findings.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological AssociationRight hepatectomy with a cholangiojejunostomy and hepaticojejunostomy for unilobar Caroli's syndrome.
Hepatobiliary & pancreatic diseases international : HBPD INTCaroli disease: an update on pathogenesis.
Chinese medical journalClinical features of autosomal recessive polycystic kidney disease in the Japanese population and analysis of splicing in PKHD1 gene for determination of phenotypes.
Clinical and experimental nephrologyThe rate of cholangiocarcinoma in Caroli Disease A German multicenter study.
HPB : the official journal of the International Hepato Pancreato Biliary AssociationNotch-Hes1 signaling activation in Caroli disease and polycystic liver disease.
Pathology internationalBiliary Tree Cysts and Surgical Treatment: Outcomes in a Multicentric Study.
Journal of laparoendoscopic & advanced surgical techniques. Part ADiffuse Versus Localized Caroli Disease: A Comparative MRCP Study.
AJR. American journal of roentgenologyImaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review.
BMC pregnancy and childbirthFibrocystic liver disease: novel concepts and translational perspectives.
Translational gastroenterology and hepatologyMultisystem inflammatory syndrome in children associated with SARS-CoV-2 in a solid organ transplant recipient.
American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons[A case of Caroli's disease confirmed by pathology, atypical symptoms and images].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyLaparoscopic liver resection in Caroli disease: A single-centre case series.
Journal of minimal access surgery[Clinicopathological features of Caroli disease/Caroli syndrome: an analysis of 21 cases].
Zhonghua yi xue za zhiFactors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study.
BMC gastroenterologyType IV choledochal cyst with polycystic kidney disease: a case report.
BMC gastroenterologyRisk of malignancy in Caroli disease and syndrome: A systematic review.
World journal of gastroenterologyCaroli Disease: A Presentation of Acute Pancreatitis and Cholangitis.
CureusPituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.
Clinical geneticsA rare missense variant in APC interrupts splicing and causes AFAP in two Danish families.
Hereditary cancer in clinical practiceCaroli's syndrome evaluated by ultrasound and magnetic resonance imaging during pregnancy.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and GynecologyRevisiting Caroli Syndrome in a Tanzanian Patient.
CureusLiver transplantation for severe portopulmonary hypertension: A case report and literature review.
World journal of clinical cases[Laparoscopic Left Hemihepatectoy Applying Intraoperative Indocyanine Green Fluorescence Detection Counter Perfusion Method for Visualization].
Zentralblatt fur Chirurgie[Surgical approach to benign bile duct alterations].
Der Chirurg; Zeitschrift fur alle Gebiete der operativen MedizenEndoscopic therapy for gastro-oesophageal varices of Caroli's syndrome: a case report.
The Journal of international medical researchGiant choledochal cyst and infantile polycystic kidneys as prenatal sonographic features of Caroli syndrome.
Journal of clinical ultrasound : JCUDiagnosis of Congenital Hepatic Fibrosis in Adulthood.
American journal of clinical pathologyTechnique and outcome of domino liver transplantation from patients with maple syrup urine disease: Expanding the donor pool for live donor liver transplantation.
Clinical transplantationHepatobiliary and Pancreatic: Caroli syndrome: Egg-like sign on CT.
Journal of gastroenterology and hepatology[Congenital hepatic fibrosis associated with Caroli's disease: a case report].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyLarge-duct cholangiopathies: aetiology, diagnosis and treatment.
Frontline gastroenterologyPathobiology of inherited biliary diseases: a roadmap to understand acquired liver diseases.
Nature reviews. Gastroenterology & hepatologyLangerhans' Cell Histiocytosis Masquerading as Caroli's Disease.
Journal of pediatric hematology/oncologyCongenital Cystic Lesions of the Bile Ducts: Imaging-Based Diagnosis.
Current problems in diagnostic radiology[A cough in a patient with cholangitis in the course of caroli's disease. Case report].
Wiadomosci lekarskie (Warsaw, Poland : 1960)Caroli Syndrome in a 6-Year-Old Rottweiler Dog.
Journal of comparative pathologyCaroli Disease Revisited: A Case of a Kidney Transplant Patient With Autosomal Polycystic Kidney Disease and Recurrent Episodes of Cholangitis.
Transplantation proceedingsMagnetic resonance imaging of fibropolycystic liver disease: the spectrum of ductal plate malformations.
Abdominal radiology (New York)Role of Transplant in Biliary Disease.
The Surgical clinics of North AmericaEvaluation of Underlying Liver Disease and Its Severity in Children Referred for Liver Transplant: a Single-Center Report From Nemazee Hospital of Shiraz.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationHaemostatic radiation therapy for a bleeding intraductal papillary neoplasm of the biliary tree.
BMJ case reportsMedullary sponge kidney and Caroli's disease in a patient with stricture urethra: look for the hidden in presence of the apparent.
BMJ case reportsA human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report.
MedicineCholangiolocellular Carcinoma With "Ductal Plate Malformation" Pattern May Be Characterized by ARID1A Genetic Alterations.
The American journal of surgical pathologyCaroli syndrome: a clinical case with detailed histopathological analysis.
Clinical journal of gastroenterologyA teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and congenital hepatic fibrosis: a case report.
Jornal brasileiro de nefrologiaSurgical treatment for monolobular Caroli's disease ‒ Report of a 30-year single center case series.
Bioscience trendsBlockade of Hedgehog Signaling Attenuates Biliary Cystogenesis in the Polycystic Kidney (PCK) Rat.
The American journal of pathologyCaroli's disease associated with biliary papillomatosis and cholangiolithiasis.
EndoscopyAn unusual case of pregnancy in a patient with Caroli's syndrome.
European journal of obstetrics, gynecology, and reproductive biologyLiver resection and transplantation in Caroli disease and syndrome.
Journal of visceral surgery[Genetic diagnosis of Caroli syndrome with autosomal recessive polycystic kidney disease: a case report and literature review].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesStarry Night on Liver MRI: An Unexpected Incidental Finding in a Healthy Recruit.
GastroenterologyLaparoscopic hepatectomy for the treatment of Caroli's disease: a case report.
Annals of surgical treatment and researchCholedochal Malformations: Surgical Implications of Radiologic Findings.
AJR. American journal of roentgenologyβ-Catenin and interleukin-1β-dependent chemokine (C-X-C motif) ligand 10 production drives progression of disease in a mouse model of congenital hepatic fibrosis.
Hepatology (Baltimore, Md.)[A case of Caroli disease in Tibet, China].
Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatologyCongenital hepatic fibrosis in a 9-year-old female patient - a case report.
Clinical and experimental hepatologyHepatic morphology abnormalities: beyond cirrhosis.
Abdominal radiology (New York)[Upper abdominal pain and febrile episodes in a 44-year-old Filipino woman].
Der InternistIdentification of occult active infection using PET-CT in a combined liver-kidney transplant candidate.
Transplant infectious disease : an official journal of the Transplantation SocietyAbernethy malformation associated with Caroli's syndrome in a patient with a PKHD1 mutation: a case report.
Diagnostic pathologyPrenatal Diagnosis of Caroli Disease Associated With Autosomal Recessive Polycystic Kidney Disease by 3-D Ultrasound and Magnetic Resonance Imaging.
Journal of obstetrics and gynaecology Canada : JOGC = Journal d'obstetrique et gynecologie du Canada : JOGCDiffuse-Type Caroli Disease with Characteristic Central Dot Sign Complicated by Multiple Intrahepatic and Common Bile Duct Stones.
Clinical endoscopyDiversity of renal phenotypes in patients with WDR19 mutations: Two case reports.
Nephrology (Carlton, Vic.)Transjugular intrahepatic portosystemic shunt in a patient with Caroli's disease and portal cavernoma.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverPediatric choledochal cysts: diagnosis and current management.
Pediatric surgery internationalFactors associated with long-term survival after liver transplantation: A retrospective cohort study.
World journal of hepatologyUnusual Indications for a Liver Transplant: A Single-Center Experience.
Experimental and clinical transplantation : official journal of the Middle East Society for Organ TransplantationIntrahepatic Biliary Duct Dilatation With an Unusual Choledochoscope Image.
GastroenterologyCanine Breed-Specific Hepatopathies.
The Veterinary clinics of North America. Small animal practiceCholangiocarcinoma: Current Knowledge and New Developments.
Gut and liverAccessory gallbladder in an intrahepatic location mimicking a cystic tumor of the liver: A case report.
MedicineRecurrent Cholangitis in a Patient with Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Caroli's Disease.
Internal medicine (Tokyo, Japan)Pylephlebitis: Through These Portals Pass Bad Bugs.
Digestive diseases and sciencesShould Caroli's disease be in the Todani classification?
Abdominal radiology (New York)Autosomal recessive polycystic kidney disease diagnosed in a 39 year-old women with kidney failure and cramps.
Nefrologia : publicacion oficial de la Sociedad Espanola NefrologiaDuctal Plate Malformation in the Liver of Boxer Dogs: Clinical and Histological Features.
Veterinary pathologyContrast-enhanced magnetic resonance cholangiography with gadoxetic-acid-disodium for the detection of biliary-cyst communication in Caroli disease.
Gastroenterologia y hepatologiaImaging of Von Meyenburg complexes.
Diagnostic and interventional imagingCompound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
American journal of medical genetics. Part AProposal for an algorithm for liver transplantation in Caroli's disease and syndrome: putting an uncommon effort into a common task.
Clinical transplantationSurgical Management of Caroli's Disease: Single Center Experience and Review of the Literature.
Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary TractHepatorenal fibrocystic diseases in children.
Pediatric nephrology (Berlin, Germany)Caroli's disease misdiagnosed as intraductal papillary neoplasm of the bile duct.
Clinical and molecular hepatologyCaroli's Syndrome with Incidental Fibrolamellar Carcinoma on Liver Explant.
Indian journal of pediatricsRenal cystic disease and liver abnormalities: polycystic kidney and hepatic disease and the association with Caroli disease.
Journal of the American College of SurgeonsImage of the month: Caroli syndrome: central dot sign on CT.
The American journal of gastroenterologyWhat is this sign? The 'central dot sign', associated with Caroli's disease and Caroli's syndrome.
Journal of paediatrics and child healthNephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.
Pediatric nephrology (Berlin, Germany)Education and imaging. Hepatology: "central dot sign" of Caroli syndrome.
Journal of gastroenterology and hepatologySegmental cholangiectasia clinically worrisome for cholangiocarcinoma: comparison with recurrent pyogenic cholangitis.
Human pathologyAssociações
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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.
- Localized cystic dilatation of the intrahepatic bile ducts as a distinct subtype of Caroli disease: a case report.
- Caroli disease associated with autosomal recessive polycystic kidney disease: CT imaging features of a case report.
- Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.
- Intrahepatic Versus Extrahepatic Biliary Tree Cysts: Outcomes after Surgical Resection in a Multicentric Study.Journal of laparoendoscopic & advanced surgical techniques. Part A· 2026· PMID 41467982mais citado
- Open resection of gastroduodenal artery aneurysm with fistulization into the duodenum 17 years after coil embolization in a patient with Caroli disease.
- Clinical outcomes in Caroli disease and Caroli syndrome: a longitudinal observational cohort study.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:53035(Orphanet)
- OMIM OMIM:600643(OMIM)
- MONDO:0010913(MONDO)
- GARD:6002(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q1044327(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
