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      The Role of Next Generation Sequencing in the Differential Diagnosis of Caroli’s Syndrome

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          Abstract

          We report the case of a 41-year-old man on conservative treatment for more than 20 years for chronic renal insufficiency, chronic hepatitis and recurrent cholangitis. Following lengthy and extensive diagnostics, the differential diagnosis included primary sclerosing cholangitis and Caroli’s disease (CD). To solve the diagnostic challenge, next generation sequencing (NGS) was performed to distinguish between the disorders possibly present in the patient. The diagnosis of CD became evident after two rare known pathogenic mutations were detected in the poly-ductin 1 ( PKHD1) gene, c.370C>T (p.Arg124Ter) and c.4870C>T (p.Arg1624Trp). In this case, NGS was instrumental in solving the diagnostic challenge, allowing differentiation among the proposed genetic and non-genetic ethiologies.

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          Most cited references14

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          Clinical characteristics of Caroli's disease.

          Caroli's disease is a rare congenital condition chara-cterized by non-obstructive saccular or fusiform dilatation of larger intrahepatic bile ducts. Cholangitis, liver cirrhosis, and cholangiocarcinoma are its potential complications. The diagnosis of Caroli's disease depends on demonstrating that the cystic lesions are in continuity with the biliary tree which can be showed by ultrasonography, computerized tomography, endoscopic retrograde cholangiopancreatography, percutaneous transhepatic cholangiography or magnetic resonance cholangiopancreatography. Treatment of Caroli's disease relies on the location of the biliary abnormalities. While localized forms confined to one lobe can be treated with surgery, liver transplantation is the only effective modality for diffuse forms. Although a rare disorder; Caroli's disease should always be considered in the differential diagnosis of chronic cholestasis of unknown cause.
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            Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases

            Autosomal recessive polycystic kidney disease (ARPKD) and other hepatorenal fibrocystic diseases (HRFD) are relatively rare recessive disorders that constitute an important set of childhood nephropathies. Little is known about fundamental pathogenesis, and advances toward clinical trials will require well-characterized patient cohorts and the development of predictive and prognostic biomarkers. Such studies in rare diseases require greater collaboration than the efforts in common diseases where large patient repositories can be built at a single site. For the HRFD, clinical and translational research studies would be well served by centralized case accrual that coordinates collection of clinical data, biospecimens (DNA and tissues), and genetic information. As a part of the NIH-funded Hepatorenal Fibrocystic Disease Core Center, we have established a web-accessible portal to enroll patients with ARPKD and other HRFD and compile baseline and longitudinal clinical information in a REDCap-based clinical database. This central database is structured to collect clinical data from patients throughout the Americas (North, Central, and South). By using informatic analyses, we have defined the first data-driven estimates of ARPKD-related neonatal mortality, as well as the incidence and prevalence of this disease. These data indicate that while ARPKD is a rare disorder, there are hundreds of patients potentially available for deep clinical phenotyping in the United States alone. The centralization and sharing of clinical information and biomaterials from ARPKD and other HRFD patients hold the potential to accelerate progress in understanding disease pathways. Once the database is mature, the well-characterized patient cohorts will provide an important resource for developing clinical trials to evaluate new targeted therapeutic interventions in this spectrum of disorders.
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              Clinical classification of Caroli's disease: an analysis of 30 patients

              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.
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                Author and article information

                Journal
                Balkan J Med Genet
                bjmg
                bjmg
                Balkan Journal of Medical Genetics : BJMG
                Sciendo
                1311-0160
                2199-5761
                December 2018
                31 December 2018
                : 21
                : 2
                : 49-53
                Affiliations
                [1 ]Internal Clinic, Department of Gastroenterohepatology, Clinical Centre of Montenegro , Podgorica, Montenegro
                [2 ]Clinical Institute of Medical Genetics, University Medical Centre Ljubljana , Ljubljana, Slovenia
                Author notes
                [* ] Professor Borut Peterlin, M.D., Ph.D., Department of Gynecology and Obstetrics, Institute of Medical Genetics, Department of Gynecology and Obstetrics, University Medical Centre Ljubljana, Šlajmerjeva Street 4, Ljubljana, Slovenia. Tel./Fax: +386-(0)1-540-1137 borut.peterlin@ 123456guest.arnes.si
                Article
                bjmg-2018-0027
                10.2478/bjmg-2018-0027
                6454240
                30984525
                36ed968f-3b45-4653-8f35-25fd2e4fdca6
                © 2018 Smolović B, Muhović D, Hodžić A, Bergant G, Peterlin B, published by Sciendo

                This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

                History
                Page count
                Pages: 5
                Categories
                Case Report

                caroli’s syndrome (cs),polyductin 1 (pkhd1) gene,polycystic kidney disease

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