Raras
Buscar doenças, sintomas, genes...
Doença de Caroli
ORPHA:53035CID-10 · Q44.6CID-11 · LB20.00OMIM 600643DOENÇA RARA

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.

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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.

Publicações científicas
215 artigos
Último publicado: 2026 Mar 26

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
All ages
🏥
SUS: Cobertura mínimaScore: 15%
CID-10: Q44.6
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

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

Partes do corpo afetadas

🫃
Digestivo
13 sintomas
📏
Crescimento
2 sintomas
🦴
Ossos e articulações
1 sintomas
🩸
Sangue
1 sintomas
👁️
Olhos
1 sintomas

+ 15 sintomas em outras categorias

Características mais comuns

90%prev.
Colestase
Muito frequente (99-80%)
55%prev.
Icterícia
Frequente (79-30%)
55%prev.
Colangite
Frequente (79-30%)
55%prev.
Nível elevado de gama-glutamiltransferase
Frequente (79-30%)
55%prev.
Dor abdominal
Frequente (79-30%)
55%prev.
Hiperbilirrubinemia conjugada
Frequente (79-30%)
33sintomas
Muito frequente (1)
Frequente (7)
Ocasional (18)
Muito raro (7)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 33 características clínicas mais associadas, ordenadas por frequência.

ColestaseCholestasis
Muito frequente (99-80%)90%
IcteríciaJaundice
Frequente (79-30%)55%
ColangiteCholangitis
Frequente (79-30%)55%
Nível elevado de gama-glutamiltransferaseElevated gamma-glutamyltransferase level
Frequente (79-30%)55%
Dor abdominalAbdominal pain
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico215PubMed
Últimos 10 anos161publicações
Pico202019 papers
Linha do tempo
2026Hoje · 2026🧪 2003Primeiro ensaio clínico📈 2020Ano 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, Not applicable.

PKHD1FibrocystinDisease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Cell membraneCytoplasmCell projection, ciliumCytoplasm, cytoskeleton, cilium basal bodyCytoplasm, cytoskeleton, spindleChromosome, centromereApical cell membraneNucleusSecreted, extracellular exosomeSecretedEndoplasmic reticulumGolgi apparatus

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Rim - Medula
12.9 TPM
Rim - Córtex
8.8 TPM
Pâncreas
5.1 TPM
Testículo
2.2 TPM
Fígado
1.0 TPM
OUTRAS DOENÇAS (3)
polycystic kidney disease 4autosomal recessive polycystic kidney diseaseCaroli disease
HGNC:9016UniProt:P08F94

Variantes genéticas (ClinVar)

1,797 variantes patogênicas registradas no ClinVar.

🧬 PKHD1: NM_138694.4(PKHD1):c.53-6T>G ()
🧬 PKHD1: NM_138694.4(PKHD1):c.1271G>A (p.Trp424Ter) ()
🧬 PKHD1: NM_138694.4(PKHD1):c.808A>G (p.Ser270Gly) ()
🧬 PKHD1: NM_138694.4(PKHD1):c.5214T>G (p.Ile1738Met) ()
🧬 PKHD1: NM_138694.4(PKHD1):c.7205G>C (p.Gly2402Ala) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 7 variantes classificadas pelo ClinVar.

6
1
Patogênica (85.7%)
Benigna (14.3%)
VARIANTES MAIS SIGNIFICATIVAS
PKHD1: NM_138694.4(PKHD1):c.5879C>G (p.Thr1960Arg) [Likely pathogenic]
IFT56: NM_024926.4(IFT56):c.788A>G (p.Asn263Ser) [Likely pathogenic]
PKHD1: NM_138694.4(PKHD1):c.2702A>C (p.Asn901Thr) [Pathogenic/Likely pathogenic]
LOC126859690: NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) [Pathogenic/Likely pathogenic]
PKHD1: NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) [Conflicting classifications of pathogenicity]

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.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Doença de Caroli

🗺️

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
108 papers (10 anos)
#1

Localized cystic dilatation of the intrahepatic bile ducts as a distinct subtype of Caroli disease: a case report.

Journal of medical case reports2026 Mar 09

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.

#2

Caroli disease associated with autosomal recessive polycystic kidney disease: CT imaging features of a case report.

Radiology case reports2026 May

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.

#3

Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.

Genes2026 Feb 11

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.

#4

Intrahepatic Versus Extrahepatic Biliary Tree Cysts: Outcomes after Surgical Resection in a Multicentric Study.

Journal of laparoendoscopic &amp; advanced surgical techniques. Part A2026 Feb

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.

#5

Open 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 techniques2026 Feb

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

Ver todas no PubMed

📚 EuropePMC96 artigos no totalmostrando 158

2026

Localized cystic dilatation of the intrahepatic bile ducts as a distinct subtype of Caroli disease: a case report.

Journal of medical case reports
2026

Caroli disease associated with autosomal recessive polycystic kidney disease: CT imaging features of a case report.

Radiology case reports
2026

Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.

Genes
2026

Intrahepatic Versus Extrahepatic Biliary Tree Cysts: Outcomes after Surgical Resection in a Multicentric Study.

Journal of laparoendoscopic &amp; advanced surgical techniques. Part A
2026

Open 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 techniques
2025

Recommendations for management of pregnancy complicated by Caroli disease: A case report and literature review.

iLIVER
2025

Gallstone Ileus Causing Mechanical Bowel Obstruction in a Patient With Caroli's Disease: A Case Report.

Cureus
2025

Splenic artery embolization in a patient with advanced Caroli's syndrome complicated by portal hypertension: a case report.

Journal of medical case reports
2025

A case of pregnancy complicated by caroli disease.

BMC pregnancy and childbirth
2025

Prenatal diagnosis and molecular characterization of PKHD1 variants in two Chinese fetuses with Caroli disease/syndrome.

Frontiers in genetics
2025

Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification.

Prenatal diagnosis
2025

Non-infectious Hepatic Cystic Lesions: A Narrative Review.

Current medical imaging
2025

Liver Transplantation in Childhood: A 2-Year Single Center Experience.

Transplantation proceedings
2026

Hepatic Cyst Infection in a Hemodialysis Patient with Autosomal Dominant Polycystic Kidney Disease Complicated by Non-symptomatic Caroli Disease.

Internal medicine (Tokyo, Japan)
2025

[Variant anatomy of the gallbladder].

Khirurgiia
2025

[A case of congenital hepatic fibrosis accompanied with multiple system abnormalities].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology
2025

Surgical management of Caroli disease in a low-mid income country: a single-center study and review of literature.

BMC surgery
2025

Hepatic cysts: a survival guide.

Radiologia brasileira
2025

Recurrent kidney stones in a young man with Caroli disease.

Kidney international
2025

Prenatal Diagnosis of Caroli's Disease by Ultrasound and MRI Imaging.

Prenatal diagnosis
2025

Cystic lesions and their mimics involving the intrahepatic bile ducts and peribiliary space: diagnosis, complications, and management.

Abdominal radiology (New York)
2024

AIRE mutation in an elderly Caroli's patient with cholangitis and sepsis: a case report.

Journal of medical case reports
2025

Caroli disease incidentally discovered in a 23-years old male: A case report.

Radiology case reports
2024

Optimal 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 Hepatology
2024

Heritable Chronic Cholestatic Liver Diseases: A Review.

Journal of clinical and translational hepatology
2024

Association of congenital hepatic fibrosis and Caroli's syndrome: Two illustrative cases.

Clinics and research in hepatology and gastroenterology
2024

Liver Transplantation for Diffuse Form of Caroli Disease with Chronic Hepatitis B: A Case Report.

Transplantation proceedings
2024

A case report of intrahepatic bile duct dilatation caused by WDR19 gene mutation and presented as Caroli syndrome.

Translational pediatrics
2024

Caroli's disease misdiagnosed as bile duct cystadenoma: A case report.

Journal of clinical ultrasound : JCU
2024

Histopathology and molecular pathology confirmed a diagnosis of atypical Caroli's syndrome: a case report.

Diagnostic pathology
2023

Short-Term Outcome of Isolated Kidney Transplantation in Children with Autosomal Recessive Polycystic Kidney Disease: A Case Series and Literature Review.

Clinics and practice
2024

A Unique Case of Caroli Disease in Kenya's Medical Landscape.

The American journal of case reports
2024

Caroli disease combined with Banti syndrome in a woman: a case report.

The Journal of international medical research
2024

Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report.

Heliyon
2023

Caroli disease with subcutaneous hemorrhage as the sole clinical manifestation: A case report.

Medicine
2023

Autosomal Recessive Polycystic Kidney Disease: Diagnosis, Prognosis, and Management.

Advances in kidney disease and health
2023

Atypical cystic hepatorenal disease in a 40-year-old female: What is the diagnosis? A nephrology zebra.

Journal of nephrology
2023

Efficacy of rehabilitation initiated in the early phase after simultaneous deceased donor liver and kidney transplantation: A case report.

Medicine
2024

Nirmatrelvir/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 Chemotherapy
2024

Clinical, histopathological, and immunohistochemical spectrum of hepatolithiasis: a tertiary care center-based study from north India.

Virchows Archiv : an international journal of pathology
2023

[Caroli disease: optimizing the choice of surgical strategy using 3D modeling, 3D printing and therapy].

Khirurgiia
2023

Caroli syndrome associated with atrial septal defect and polydactyly: a case report.

Journal of medical case reports
2023

Liver transplantation for biliary cysts: perioperative and long-term outcomes.

HPB : the official journal of the International Hepato Pancreato Biliary Association
2023

AN 84-YEAR-OLD PATIENT WITH CAROLI SYNDROME: WHAT IS THE PROGNOSIS OF THIS CONDITION?

European journal of case reports in internal medicine
2023

Findings of cholangitis in a kidney transplant patient with Caroli disease on FDG PET/CT and MRI.

Radiology case reports
2023

Transjugular intrahepatic portosystemic shunt for portal hypertension in a patient with Caroli disease.

Asian journal of surgery
2022

Role of Cholangioscopy in a Patient With Hepatolithiasis and Caroli Disease.

ACG case reports journal
2022

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

Transplantation direct
2022

[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 hepatology
2023

Diagnosis and management of choledochal cysts.

HPB : the official journal of the International Hepato Pancreato Biliary Association
2023

Hypersplenism caused by Caroli's disease.

Asian journal of surgery
2023

[Robotic Left Hepatectomy Using the Glissonean Pedicle Approach for the Treatment of Caroli's Syndrome].

Zentralblatt fur Chirurgie
2022

Liver Cancer Study Group of Japan Clinical Practice Guidelines for Intrahepatic Cholangiocarcinoma.

Liver cancer
2023

Caroli syndrome in a patient with psoriasis: A case report.

Asian journal of surgery
2022

Caroli's syndrome with autosomal recessive polycystic kidney disease on fetal MRI: A case report.

Congenital anomalies
2022

[A case of Caroli's disease associated with intrahepatic cholangiocarcinoma].

Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology
2023

An update on ductal plate malformations and fibropolycystic diseases of the liver.

Human pathology
2022

EASL Clinical Practice Guidelines on the management of cystic liver diseases.

Journal of hepatology
2022

Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.

Molecular genetics &amp; genomic medicine
2022

Caroli's disease incidentally discovered in a 16-years-old female: a case report.

The Pan African medical journal
2022

Imaging of fibropolycystic liver disease.

Abdominal radiology (New York)
2022

Esophagogastric variceal bleeding as a debut of Caroli's syndrome.

Revista espanola de enfermedades digestivas
2022

Heterotopic pancreas in the liver: a rare cause of recurrent attacks of cholangitis mimicking Caroli's disease.

Gastrointestinal endoscopy
2022

Immune-complex membranoproliferative glomerulonephritis in liver cirrhosis secondary to Caroli's disease: a multi-hit process?

International urology and nephrology
2022

Repeated epigastric pain caused by Caroli's disease.

Asian journal of surgery
2022

Incidental Detection of Caroli Syndrome With Unusual Findings.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association
2023

Right hepatectomy with a cholangiojejunostomy and hepaticojejunostomy for unilobar Caroli's syndrome.

Hepatobiliary &amp; pancreatic diseases international : HBPD INT
2021

Caroli disease: an update on pathogenesis.

Chinese medical journal
2022

Clinical 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 nephrology
2022

The rate of cholangiocarcinoma in Caroli Disease A German multicenter study.

HPB : the official journal of the International Hepato Pancreato Biliary Association
2021

Notch-Hes1 signaling activation in Caroli disease and polycystic liver disease.

Pathology international
2022

Biliary Tree Cysts and Surgical Treatment: Outcomes in a Multicentric Study.

Journal of laparoendoscopic &amp; advanced surgical techniques. Part A
2021

Diffuse Versus Localized Caroli Disease: A Comparative MRCP Study.

AJR. American journal of roentgenology
2021

Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review.

BMC pregnancy and childbirth
2021

Fibrocystic liver disease: novel concepts and translational perspectives.

Translational gastroenterology and hepatology
2021

Multisystem 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
2021

[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 hepatology
2021

Laparoscopic liver resection in Caroli disease: A single-centre case series.

Journal of minimal access surgery
2020

[Clinicopathological features of Caroli disease/Caroli syndrome: an analysis of 21 cases].

Zhonghua yi xue za zhi
2020

Factors contributing to diagnostic delay of Caroli syndrome: a single-center, retrospective study.

BMC gastroenterology
2020

Type IV choledochal cyst with polycystic kidney disease: a case report.

BMC gastroenterology
2020

Risk of malignancy in Caroli disease and syndrome: A systematic review.

World journal of gastroenterology
2020

Caroli Disease: A Presentation of Acute Pancreatitis and Cholangitis.

Cureus
2020

Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.

Clinical genetics
2020

A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families.

Hereditary cancer in clinical practice
2020

Caroli's syndrome evaluated by ultrasound and magnetic resonance imaging during pregnancy.

Ultrasound in obstetrics &amp; gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology
2020

Revisiting Caroli Syndrome in a Tanzanian Patient.

Cureus
2019

Liver transplantation for severe portopulmonary hypertension: A case report and literature review.

World journal of clinical cases
2020

[Laparoscopic Left Hemihepatectoy Applying Intraoperative Indocyanine Green Fluorescence Detection Counter Perfusion Method for Visualization].

Zentralblatt fur Chirurgie
2020

[Surgical approach to benign bile duct alterations].

Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen
2020

Endoscopic therapy for gastro-oesophageal varices of Caroli's syndrome: a case report.

The Journal of international medical research
2020

Giant choledochal cyst and infantile polycystic kidneys as prenatal sonographic features of Caroli syndrome.

Journal of clinical ultrasound : JCU
2020

Diagnosis of Congenital Hepatic Fibrosis in Adulthood.

American journal of clinical pathology
2019

Technique and outcome of domino liver transplantation from patients with maple syrup urine disease: Expanding the donor pool for live donor liver transplantation.

Clinical transplantation
2020

Hepatobiliary and Pancreatic: Caroli syndrome: Egg-like sign on CT.

Journal of gastroenterology and hepatology
2019

[Congenital hepatic fibrosis associated with Caroli's disease: a case report].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology
2019

Large-duct cholangiopathies: aetiology, diagnosis and treatment.

Frontline gastroenterology
2019

Pathobiology of inherited biliary diseases: a roadmap to understand acquired liver diseases.

Nature reviews. Gastroenterology &amp; hepatology
2020

Langerhans' Cell Histiocytosis Masquerading as Caroli's Disease.

Journal of pediatric hematology/oncology
2020

Congenital Cystic Lesions of the Bile Ducts: Imaging-Based Diagnosis.

Current problems in diagnostic radiology
2019

[A cough in a patient with cholangitis in the course of caroli's disease. Case report].

Wiadomosci lekarskie (Warsaw, Poland : 1960)
2019

Caroli Syndrome in a 6-Year-Old Rottweiler Dog.

Journal of comparative pathology
2019

Caroli Disease Revisited: A Case of a Kidney Transplant Patient With Autosomal Polycystic Kidney Disease and Recurrent Episodes of Cholangitis.

Transplantation proceedings
2019

Magnetic resonance imaging of fibropolycystic liver disease: the spectrum of ductal plate malformations.

Abdominal radiology (New York)
2019

Role of Transplant in Biliary Disease.

The Surgical clinics of North America
2020

Evaluation 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 Transplantation
2018

Haemostatic radiation therapy for a bleeding intraductal papillary neoplasm of the biliary tree.

BMJ case reports
2018

Medullary sponge kidney and Caroli's disease in a patient with stricture urethra: look for the hidden in presence of the apparent.

BMJ case reports
2018

A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report.

Medicine
2019

Cholangiolocellular Carcinoma With "Ductal Plate Malformation" Pattern May Be Characterized by ARID1A Genetic Alterations.

The American journal of surgical pathology
2019

Caroli syndrome: a clinical case with detailed histopathological analysis.

Clinical journal of gastroenterology
2019

A teenage patient with autosomal recessive polycystic kidney disease, a splenorenal shunt, and congenital hepatic fibrosis: a case report.

Jornal brasileiro de nefrologia
2018

Surgical treatment for monolobular Caroli's disease ‒ Report of a 30-year single center case series.

Bioscience trends
2018

Blockade of Hedgehog Signaling Attenuates Biliary Cystogenesis in the Polycystic Kidney (PCK) Rat.

The American journal of pathology
2018

Caroli's disease associated with biliary papillomatosis and cholangiolithiasis.

Endoscopy
2018

An unusual case of pregnancy in a patient with Caroli's syndrome.

European journal of obstetrics, gynecology, and reproductive biology
2019

Liver resection and transplantation in Caroli disease and syndrome.

Journal of visceral surgery
2018

[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 sciences
2018

Starry Night on Liver MRI: An Unexpected Incidental Finding in a Healthy Recruit.

Gastroenterology
2018

Laparoscopic hepatectomy for the treatment of Caroli's disease: a case report.

Annals of surgical treatment and research
2018

Choledochal Malformations: Surgical Implications of Radiologic Findings.

AJR. American journal of roentgenology
2018

β-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.)
2017

[A case of Caroli disease in Tibet, China].

Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology
2017

Congenital hepatic fibrosis in a 9-year-old female patient - a case report.

Clinical and experimental hepatology
2018

Hepatic morphology abnormalities: beyond cirrhosis.

Abdominal radiology (New York)
2018

[Upper abdominal pain and febrile episodes in a 44-year-old Filipino woman].

Der Internist
2017

Identification of occult active infection using PET-CT in a combined liver-kidney transplant candidate.

Transplant infectious disease : an official journal of the Transplantation Society
2017

Abernethy malformation associated with Caroli's syndrome in a patient with a PKHD1 mutation: a case report.

Diagnostic pathology
2017

Prenatal 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 : JOGC
2017

Diffuse-Type Caroli Disease with Characteristic Central Dot Sign Complicated by Multiple Intrahepatic and Common Bile Duct Stones.

Clinical endoscopy
2017

Diversity of renal phenotypes in patients with WDR19 mutations: Two case reports.

Nephrology (Carlton, Vic.)
2017

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 Liver
2017

Pediatric choledochal cysts: diagnosis and current management.

Pediatric surgery international
2017

Factors associated with long-term survival after liver transplantation: A retrospective cohort study.

World journal of hepatology
2017

Unusual Indications for a Liver Transplant: A Single-Center Experience.

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation
2017

Intrahepatic Biliary Duct Dilatation With an Unusual Choledochoscope Image.

Gastroenterology
2017

Canine Breed-Specific Hepatopathies.

The Veterinary clinics of North America. Small animal practice
2017

Cholangiocarcinoma: Current Knowledge and New Developments.

Gut and liver
2016

Accessory gallbladder in an intrahepatic location mimicking a cystic tumor of the liver: A case report.

Medicine
2016

Recurrent Cholangitis in a Patient with Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Caroli's Disease.

Internal medicine (Tokyo, Japan)
2016

Pylephlebitis: Through These Portals Pass Bad Bugs.

Digestive diseases and sciences
2016

Should Caroli's disease be in the Todani classification?

Abdominal radiology (New York)
2016

Autosomal recessive polycystic kidney disease diagnosed in a 39 year-old women with kidney failure and cramps.

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia
2016

Ductal Plate Malformation in the Liver of Boxer Dogs: Clinical and Histological Features.

Veterinary pathology
2016

Contrast-enhanced magnetic resonance cholangiography with gadoxetic-acid-disodium for the detection of biliary-cyst communication in Caroli disease.

Gastroenterologia y hepatologia
2016

Imaging of Von Meyenburg complexes.

Diagnostic and interventional imaging
2015

Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.

American journal of medical genetics. Part A
2016

Proposal for an algorithm for liver transplantation in Caroli's disease and syndrome: putting an uncommon effort into a common task.

Clinical transplantation
2015

Surgical 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 Tract
2016

Hepatorenal fibrocystic diseases in children.

Pediatric nephrology (Berlin, Germany)
2015

Caroli's disease misdiagnosed as intraductal papillary neoplasm of the bile duct.

Clinical and molecular hepatology
2016

Caroli's Syndrome with Incidental Fibrolamellar Carcinoma on Liver Explant.

Indian journal of pediatrics
2015

Renal cystic disease and liver abnormalities: polycystic kidney and hepatic disease and the association with Caroli disease.

Journal of the American College of Surgeons
2015

Image of the month: Caroli syndrome: central dot sign on CT.

The American journal of gastroenterology
2015

What is this sign? The 'central dot sign', associated with Caroli's disease and Caroli's syndrome.

Journal of paediatrics and child health
2015

Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.

Pediatric nephrology (Berlin, Germany)
2015

Education and imaging. Hepatology: "central dot sign" of Caroli syndrome.

Journal of gastroenterology and hepatology
2015

Segmental cholangiectasia clinically worrisome for cholangiocarcinoma: comparison with recurrent pyogenic cholangitis.

Human pathology

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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. Localized cystic dilatation of the intrahepatic bile ducts as a distinct subtype of Caroli disease: a case report.
    Journal of medical case reports· 2026· PMID 41804000mais citado
  2. Caroli disease associated with autosomal recessive polycystic kidney disease: CT imaging features of a case report.
    Radiology case reports· 2026· PMID 41798673mais citado
  3. Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.
    Genes· 2026· PMID 41751613mais citado
  4. Intrahepatic Versus Extrahepatic Biliary Tree Cysts: Outcomes after Surgical Resection in a Multicentric Study.
    Journal of laparoendoscopic &amp; advanced surgical techniques. Part A· 2026· PMID 41467982mais citado
  5. Open 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 techniques· 2026· PMID 41399743mais citado
  6. Clinical outcomes in Caroli disease and Caroli syndrome: a longitudinal observational cohort study.
    Sci Rep· 2026· PMID 41888235recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:53035(Orphanet)
  2. OMIM OMIM:600643(OMIM)
  3. MONDO:0010913(MONDO)
  4. GARD:6002(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Artigo Wikipedia(Wikipedia)
  8. 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

Doença de Caroli
Compêndio · Raras BR

Doença de Caroli

ORPHA:53035 · MONDO:0010913
Prevalência
Unknown
Herança
Autosomal recessive, Not applicable
CID-10
Q44.6 · Doença cística do fígado
CID-11
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0162510
EuropePMC
Wikidata
Wikipedia
Papers 10a
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