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2.
BMJ Case Rep ; 11(1)2018 Dec 03.
Artigo em Inglês | MEDLINE | ID: mdl-30567170

RESUMO

Caroli's disease is a rare congenital disorder with incidence rate of approximately 1 in 1 000 000 population. Renal anomalies which may be associated with Caroli's disease include medullary sponge kidney (MSK), cortical cysts, adult recessive polycystic kidney disease and rarely autosomal dominant polycystic kidney disease. Exact incidence of MSK in patients of Caroli's disease is not known. There are only a handful of reported cases of this association in literature. We hereby report a case of Caroli's disease with MSK with nephrocalcinosis. He presented to primary health centre with symptoms of urethral stricture due to lichen sclerosus et atrophicus and was managed with repeated co-axial dilatation but was never evaluated for underlying chronic renal insufficiency due to MSK. The thorough clinical examination and proper evaluation is important in patient of urethral stricture with underlying chronic renal insufficiency to avoid delayed diagnosis, management and related complications.


Assuntos
Doença de Caroli/diagnóstico , Falência Renal Crônica/diagnóstico , Rim em Esponja Medular/diagnóstico , Estreitamento Uretral/diagnóstico , Doença de Caroli/complicações , Doença de Caroli/diagnóstico por imagem , Colangiopancreatografia por Ressonância Magnética , Diagnóstico Diferencial , Humanos , Falência Renal Crônica/complicações , Falência Renal Crônica/diagnóstico por imagem , Masculino , Rim em Esponja Medular/complicações , Rim em Esponja Medular/diagnóstico por imagem , Pessoa de Meia-Idade , Estreitamento Uretral/complicações , Estreitamento Uretral/diagnóstico por imagem , Procedimentos Cirúrgicos Urológicos Masculinos
4.
Beijing Da Xue Xue Bao Yi Xue Ban ; 50(2): 335-339, 2018 Apr 18.
Artigo em Chinês | MEDLINE | ID: mdl-29643536

RESUMO

This case report is about one genetically specified diagnosed infant case of Caroli syndrome with autosomal recessive polycystic kidney disease (ARPKD) in China. The patient in this case report was an eight-month infant boy with an atypical onset and the main clinical manifestation was non-symptomatic enlargement of the liver and kidneys. The imaging study demonstrated a diffused cystic dilatation of intrahepatic bile ducts as well as polycystic changes in bilateral kidneys. The basic blood biochemical tests indicated a normal hepatorenal function. Four serum biomarkers of hepatic fibrosis were all elevated and the urine test for an early detection of the renal injury was positive. The genetic sequencing proved two heterozygous missense mutations of polycystic kidney and hepatic disease 1 (PKHD1) gene, c.9292G>A and c.2507T>C, inherited from each of his parents respectively. The former was a novel mutation that had been verified as disease causing through the predicting software while the latter had been reported from one recent case study on Chinese twins, which was possibly unique among Chinese population. The relations between the gene type and the clinical phenotype were not clarified yet. Up till a follow-up eleven months later after the discharge, the patient had a normal hepatorenal function without occurrence of any severe complication yet. The clinical symptoms of Caroli syndrome with ARPKD at infant stage were atypical and the enlargement of liver and kidney was usually the sole symptom. From the above systematic retrospective clinical analysis, as well as the relevant literature review, it's been concluded that the features of the hepatorenal images in patients with Caroli syndrome and ARPKD were distinctive. Genetic testing combined with the imaging study benefits a definite diagnosis as well as a differentiation from other hepatorenal fibrocystic diseases. Specific to the long-term management of this kind of patients, it's necessary to schedule a regular follow-up to monitor the hepatorenal function and the occurrence of various complications for an appropriate intervention, meantime to devote efforts to the genetic counseling work for the patients' family.


Assuntos
Doença de Caroli/diagnóstico , Rim Policístico Autossômico Recessivo/diagnóstico , Grupo com Ancestrais do Continente Asiático , Ductos Biliares Intra-Hepáticos , Doença de Caroli/genética , China , Testes Genéticos , Heterozigoto , Humanos , Lactente , Rim , Cirrose Hepática , Masculino , Mutação de Sentido Incorreto , Fenótipo , Rim Policístico Autossômico Recessivo/genética , Receptores de Superfície Celular/genética , Estudos Retrospectivos
6.
Internist (Berl) ; 59(3): 276-281, 2018 Mar.
Artigo em Alemão | MEDLINE | ID: mdl-28939930

RESUMO

A 44-year-old Filipino woman presented with abdominal pain and fever. Clinical examination and blood tests revealed no pathological results; however, (cross-sectional) imaging showed saccular cystic bile duct dilatation in the right liver with solid intraductal masses. Due to the clinical presentation the patient was admitted for surgical intervention with the diagnosis of Caroli disease. During the surgical procedure histopathology showed an intraductal papillary neoplasm of the bile duct (IPNB). The planned segmentetomy was extended to hemihepatectomy. IPNB is a rare entity of premalignant lesions of the bile duct system first recognized by the World Health Organization in 2010.


Assuntos
Dor Abdominal/etiologia , Neoplasias dos Ductos Biliares/diagnóstico , Ductos Biliares Intra-Hepáticos , Carcinoma Papilar/diagnóstico , Doença de Caroli/diagnóstico , Febre de Causa Desconhecida/etiologia , Dor Abdominal/patologia , Adulto , Neoplasias dos Ductos Biliares/patologia , Neoplasias dos Ductos Biliares/cirurgia , Ductos Biliares Intra-Hepáticos/patologia , Ductos Biliares Intra-Hepáticos/cirurgia , Carcinoma Papilar/patologia , Carcinoma Papilar/cirurgia , Doença de Caroli/patologia , Doença de Caroli/cirurgia , Diagnóstico Diferencial , Feminino , Hepatectomia , Humanos
9.
Pediatr Nephrol ; 31(1): 113-9, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26260382

RESUMO

BACKGROUND: Hepatorenal fibrocystic diseases (HRFCDs) are a group of monogenic disorders characterized by developmental abnormalities involving the liver and kidney. In this study, we performed genotype and phenotype analyses of children with HRFCDs to determine the distribution of underlying diseases. METHODS: A total of 36 children with HRFCDs were recruited, with genetic tests being performed in 22 patients and 14 patients diagnosed clinically as having autosomal recessive polycystic kidney disease (ARPKD). RESULTS: In children with HRFCDs, ARPKD was the most common disease, found in 16/36 (44.4 %), followed by nephronophthisis 13 (NPHP13) in 11/36 (30.6 %) and Meckel-Gruber syndrome type 3 (MKS3) in 4/36 (11.1 %). Renal function deteriorated faster in children with NPHP13. The main hepatic pathology was Caroli disease in the NPHP13 patients, while most other patients had Caroli syndrome or congenital hepatic fibrosis. Of note, three of four MKS3 patients had an accompanying choledochal cyst. No ARPKD patient had other organ involvement, while several NPHP13 patients had ocular and/or neurodevelopmental involvement. In contrast, all MKS3 patients had severe ocular and neurodevelopmental involvement. CONCLUSIONS: NPHP13 is a major disease in the HRFCD category, and thorough evaluation of its clinical features, including kidney, liver and other organ involvement, may aid in the differential diagnosis of HRFCD.


Assuntos
Doença de Caroli/epidemiologia , Transtornos da Motilidade Ciliar/epidemiologia , Encefalocele/epidemiologia , Doenças Genéticas Inatas/epidemiologia , Cirrose Hepática/epidemiologia , Doenças Renais Policísticas/epidemiologia , Rim Policístico Autossômico Recessivo/epidemiologia , Adolescente , Adulto , Fatores Etários , Doença de Caroli/diagnóstico , Doença de Caroli/genética , Criança , Pré-Escolar , Transtornos da Motilidade Ciliar/diagnóstico , Transtornos da Motilidade Ciliar/genética , Encefalocele/diagnóstico , Encefalocele/genética , Feminino , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Predisposição Genética para Doença , Testes Genéticos , Humanos , Lactente , Falência Renal Crônica/epidemiologia , Cirrose Hepática/diagnóstico , Cirrose Hepática/genética , Masculino , Fenótipo , Doenças Renais Policísticas/diagnóstico , Doenças Renais Policísticas/genética , Rim Policístico Autossômico Recessivo/diagnóstico , Rim Policístico Autossômico Recessivo/genética , Valor Preditivo dos Testes , Prognóstico , Insuficiência Renal Crônica/epidemiologia , República da Coreia/epidemiologia , Fatores de Risco , Adulto Jovem
10.
J Gastrointest Surg ; 19(11): 2019-27, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26302876

RESUMO

BACKGROUND: Caroli's disease is a rare congenital condition characterized by non-obstructive dilatation of intrahepatic ducts. In Caroli's syndrome, there is additionally an associated congenital hepatic fibrosis. METHODS: With institutional review board approval, we identified all patients with Caroli's disease and syndrome. RESULTS: Nine patients were identified, seven males and two females, with a median age of 40 years. Final pathological diagnoses included Caroli's disease (n = 6) and Caroli's syndrome (n = 3). Patients presented with deranged liver function, cholangitis, cholangiocarcinoma, abdominal pain, cirrhosis, or were diagnosed incidentally. Four patients underwent resection and two underwent liver transplantation. Of the resection group, two patients subsequently underwent transplantation for recurrent cholangitis due to anastomotic stricture in one patient and for end-stage liver disease in the other. All patients with Caroli's syndrome underwent liver transplantation. Three patients died during follow-up at 26.2, 7.8, and 3 months post-diagnosis with recurrence of cholangiocarcinoma, liver failure, and metastatic cholangiocarcinoma, respectively. Six patients are alive with a median follow-up of 60 months since presentation (range = 10-134 months). CONCLUSIONS: Caroli's disease and syndrome have a varied presentation. Most individuals with Caroli's disease may be adequately treated by resection, but transplantation is required for Caroli's syndrome patients due to the associated hepatic fibrosis.


Assuntos
Doença de Caroli/cirurgia , Doenças Genéticas Inatas/cirurgia , Cirrose Hepática/cirurgia , Transplante de Fígado , Adolescente , Adulto , Doença de Caroli/complicações , Doença de Caroli/diagnóstico , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Doenças Genéticas Inatas/complicações , Doenças Genéticas Inatas/diagnóstico , Humanos , Lactente , Cirrose Hepática/complicações , Cirrose Hepática/diagnóstico , Masculino , Pessoa de Meia-Idade , Adulto Jovem
11.
Clin Mol Hepatol ; 21(2): 175-9, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26157755

RESUMO

Caroli's disease is a rare autosomal-recessive disorder caused by malformation of the ductal plate during embryonic development. Although it is present at birth, Caroli's disease is typically not diagnosed until between the second and fourth decades of life, as it was in the present patient. Here we report a rare case of Caroli's disease limited to one liver segment, which was initially misdiagnosed as an intraductal papillary neoplasm of the bile duct. The asymptomatic patient was treated with liver segmentectomy.


Assuntos
Doença de Caroli/diagnóstico , Adulto , Neoplasias dos Ductos Biliares/diagnóstico , Neoplasias dos Ductos Biliares/patologia , Ductos Biliares Intra-Hepáticos , Doença de Caroli/patologia , Erros de Diagnóstico , Humanos , Imagem por Ressonância Magnética , Masculino , Tomografia Computadorizada por Raios X
13.
Pediatr Nephrol ; 30(9): 1451-8, 2015 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-25726036

RESUMO

BACKGROUND: Nephronophthisis 13 (NPHP 13) is associated with mutations in the WDR19 gene, which encodes for a protein in the intraflagellar transport complex. Herein, we describe six additional cases accompanied by Caroli syndrome or disease. METHODS: Targeted exome sequencing covering 96 ciliopathy-related genes was performed for 48 unrelated Korean patients with a clinical suspicion of NPHP. Mutations were confirmed by Sanger sequencing. We evaluated the expression of WDR19 in the biopsied kidney by immunohistochemistry in patients and controls. RESULTS: We detected three (3/48, 6.3 %) unrelated index cases with WDR19 mutations. One of the cases involved two siblings with the same mutation. Later, we detected an additional index case with a similar phenotype of kidney and liver involvement by Sanger sequencing of WDR19. The p.R1178Q mutation was common in all patients. All of the six affected patients from four families progressed to chronic kidney disease. Of note, all six patients had Caroli syndrome or disease. Immunohistochemistry for WDR19 showed localized expression along the luminal borders of the renal tubular epithelium in controls, whereas it showed diffuse cytoplasmic staining in the affected patients. CONCLUSIONS: Caroli disease is a major extra-renal phenotype associated with mutations in WDR19 in the Korean population. In this study, we visually validated the expression pattern of mutant WDR19 protein in the kidneys of NPHP 13 patients. More data are needed to identify the true frequency of p.R1178Q. Functional studies including transfection assay will provide solid grounds for the pathogenicity of each mutation.


Assuntos
Doença de Caroli , Rim/patologia , Rim Policístico Autossômico Recessivo , Proteínas/genética , Adolescente , Doença de Caroli/diagnóstico , Doença de Caroli/genética , Criança , Feminino , Humanos , Masculino , Mutação , Rim Policístico Autossômico Recessivo/diagnóstico , Rim Policístico Autossômico Recessivo/genética , Sequências Repetitivas de Aminoácidos/genética , República da Coreia , Adulto Jovem
15.
HPB (Oxford) ; 17(3): 278-83, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25327281

RESUMO

BACKGROUND: Caroli's disease (CD) is a rare congenital disorder. The early diagnosis of the disease and differentiation of types I and II are of extreme importance to patient survival. This study was designed to review and discuss observations in 30 patients with CD and to clarify the clinical characteristics of the disease. METHODS: The demographic and clinical features, laboratory indicators, imaging findings and pathology results for 30 patients with CD were reviewed retrospectively. RESULTS: Caroli's disease can occur at any age. The average age of onset in the study cohort was 24 years. Patients who presented with symptoms before the age of 40 years were more likely to develop type II CD. Approximately one-third of patients presented without positive signs at original diagnosis and most of these patients were found to have type I CD on pathology. Anaemia, leucopoenia and thrombocytopoenia were more frequent in patients with type II than type I CD. Magnetic resonance cholangiopancreatography (MRCP) and computed tomography (CT) examinations were most useful in diagnosing CD. CONCLUSIONS: No typical symptoms, signs or laboratory indicators are able to distinguish CD from other conditions. Both MRCP and CT were most valuable in diagnosis. The two types of CD may be differentiated by age of onset and routine blood tests.


Assuntos
Doença de Caroli/classificação , Doença de Caroli/diagnóstico , Diagnóstico por Imagem/métodos , Progressão da Doença , Adolescente , Adulto , Fatores Etários , Idoso , Doença de Caroli/terapia , Criança , Pré-Escolar , Colangiopancreatografia por Ressonância Magnética/métodos , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Prognóstico , Doenças Raras , Estudos Retrospectivos , Medição de Risco , Amostragem , Índice de Gravidade de Doença , Taxa de Sobrevida , Tomografia Computadorizada por Raios X/métodos , Ultrassonografia Doppler , Adulto Jovem
17.
Saudi J Kidney Dis Transpl ; 25(4): 840-3, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24969198

RESUMO

Caroli's syndrome (CS) is a rare congenital disorder characterized by multiple segmental cystic or saccular dilatations of the intrahepatic bile ducts and congenital hepatic fibrosis. We report a 9-year-old boy who was diagnosed with CS and autosomal recessive poly-cystic kidney disease. On screening, his 5-month-old asymptomatic sister had multiple dilated biliary radicals with multiple bilateral renal cystic lesions. Both the patient and the affected sibling have been advised regular follow-up for monitoring the progression of the disease. In conclusion, patients with CS should be screened for renal cystic lesions and vice versa even if they are asymptomatic. Also, as the disease is inherited in an autosomal recessive manner, it is important to screen family members for early diagnosis and management.


Assuntos
Doença de Caroli/complicações , Rim Policístico Autossômico Recessivo/complicações , Doença de Caroli/diagnóstico , Doença de Caroli/genética , Doença de Caroli/terapia , Criança , Progressão da Doença , Feminino , Predisposição Genética para Doença , Testes Genéticos , Hereditariedade , Humanos , Lactente , Masculino , Linhagem , Fenótipo , Rim Policístico Autossômico Recessivo/diagnóstico , Rim Policístico Autossômico Recessivo/genética , Rim Policístico Autossômico Recessivo/terapia , Prognóstico , Irmãos , Tomografia Computadorizada por Raios X
19.
Pediatr Int ; 56(2): 267-70, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24730630

RESUMO

Liver cysts in the newborn often pose significant diagnostic challenges. Described herein is a case of large congenital liver cyst that was difficult to diagnose both antenatally and postnatally and which was later diagnosed as Caroli disease.


Assuntos
Doença de Caroli/diagnóstico , Cistos/diagnóstico , Hepatopatias/diagnóstico , Cistos/congênito , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , Hepatopatias/congênito
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