ABSTRACT
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.
Subject(s)
Humans , Infant , Male , Asian People , Bile Ducts, Intrahepatic , Caroli Disease/genetics , China , Genetic Testing , Heterozygote , Kidney , Liver Cirrhosis , Mutation, Missense , Phenotype , Polycystic Kidney, Autosomal Recessive/genetics , Receptors, Cell Surface/genetics , Retrospective StudiesABSTRACT
La enfermedad de Caroli es una condición congénita poco frecuente, cuya incidencia se estima en 1 caso por millón. Se caracteriza por dilataciones saculares o fusiformes de las vías biliares. Entre las manifestaciones clínicas se encuentran dolor en hipocondrio derecho, fiebre e ictericia, estas crisis de colangitis secundarias a estasis biliar, y sepsis. Su diagnóstico se basa en el hallazgo de lesiones quísticas en árbol biliar, pueden observarse por ecografía, tomografía computarizada. Presentamos a paciente femenino de 37 años, acude a emergencia de Medicina Interna del Hospital Escuela, de la ciudad deTegucigalpa, Honduras, manifestando signos y síntomas de colangitis aguda e ictericia. Al examen físico presenta abdomen globoso y doloroso a expensas de una hepatomegalia marcada. Nuestra paciente presento episodios de colangitis recurrente. La tomografía computarizada revela múltiples espacios quísticos en ambos lóbulos hepáticos y se encontró lesiones quísticas en el árbol biliar. Excluyendo, colangitis esclerosante, quiste hidatídico, quiste del colédoco y dilatación ductal hereditaria, y confirmando la sospecha diagnostica de enfermedad de Caroli.
Caroli disease is a rare congenital condition, which incidence is estimated at 1 case per million. Characterized by saccular or fusiform dilation of the bile. Clinical manifestations include right upper quadrant pain, fever and jaundice, these crisis of cholangitis are secondary to biliary stasis, and sepsis. Diagnosis is based on the discovery of cystic lesions in biliary tree, it may be seen by ultrasound, computed tomography. We present a case of female patient with 37-year-old, who attends to the emergency service of internal medicine of the Hospital Escuela Universitario of the city ofTegucigalpa, Honduras, manifesting signs and symptoms of acute cholangitis and jaundice. Physical examination reveals globose and painful abdomen at the expense of a marked he-patomegaly. Our patient presented episodes of recurrent cholangitis, the computed tomography reveals multiple cystic spaces in both lobes and was found lesions in the biliary tree. Excluding, sclerosing cholangitis, hydatid cyst, bile duct and hereditary ductal dilatation, and confirmed the suspected diagnosis of Caroli's disease.
Subject(s)
Humans , Female , Adult , Caroli Disease/genetics , Palliative Care/methods , Cholangiography/methodsABSTRACT
La Enfermedad de Caroli es una malformación congénita caracterizada por dilatación multifocal de los conductos biliares segmentarios, generalmente asociada con fibrosis hepática y colangitis recurrente. Se presenta el caso de una paciente femenina de 15 años de edad, con epigastralgia crónica, ictericia, fiebre, vómitos y pérdida de peso, con múltiples episodios de colangitis que ameritaron hospitalización y estudios paraclínicos (Eco y TC abdominal y PCRE) compatibles con síndrome hepatoesplénico, dilatación de las vías biliares intrahepáticas y litisiasis múltiple intrahepática. Inicialmente, en otro centro asistencial, se le practicó colecistostomia, apendicectomia y biopsia hepática, la cual reportó fibrosis portal y septal, colestasis y daño hepatocelular focal. Es referencia a nuestro centro, concluyéndose el diagnóstico de Enfermedad Caroli, por lo cual se le realizó una hepatoyeyuno anastomosis en Y de Roux y colocación de tutores a cada conducto hepático para drenaje y lavado con solución estéril heparinizada de las vías biliares intrahepáticas. La colangiografía a través de los tutores evidenció la indemnidad de la anastomosis y dilatación de las vías biliares intrahepáticas con obstrucción parcial de pequeños conductos biliares.