{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T22:41:42Z","timestamp":1777329702250,"version":"3.51.4"},"reference-count":27,"publisher":"Walter de Gruyter GmbH","issue":"2","license":[{"start":{"date-parts":[[2018,12,1]],"date-time":"2018-12-01T00:00:00Z","timestamp":1543622400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,12,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    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\u2019s 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 (\n                    <jats:italic>PKHD1<\/jats:italic>\n                    ) gene, c.370C&gt;T (p.Arg124Ter) and c.4870C&gt;T (p.Arg1624Trp). In this case, NGS was instrumental in solving the diagnostic challenge, allowing differentiation among the proposed genetic and non-genetic ethiologies.\n                  <\/jats:p>","DOI":"10.2478\/bjmg-2018-0027","type":"journal-article","created":{"date-parts":[[2019,4,1]],"date-time":"2019-04-01T13:31:01Z","timestamp":1554125461000},"page":"49-53","source":"Crossref","is-referenced-by-count":4,"title":["The role of next generation sequencing in the differential diagnosis of caroli\u2019s syndrome"],"prefix":"10.2478","volume":"21","author":[{"given":"B","family":"Smolovi\u0107","sequence":"first","affiliation":[{"name":"Internal Clinic, Department of Gastroenterohepatology, Clinical Centre of Montenegro , Podgorica , Montenegro"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Muhovi\u0107","sequence":"additional","affiliation":[{"name":"Internal Clinic, Department of Gastroenterohepatology, Clinical Centre of Montenegro , Podgorica , Montenegro"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Hod\u017ei\u0107","sequence":"additional","affiliation":[{"name":"Clinical Institute of Medical Genetics, University Medical Centre Ljubljana , Ljubljana , Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Bergant","sequence":"additional","affiliation":[{"name":"Clinical Institute of Medical Genetics, University Medical Centre Ljubljana , Ljubljana , Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B","family":"Peterlin","sequence":"additional","affiliation":[{"name":"Clinical Institute of Medical Genetics, University Medical Centre Ljubljana , Ljubljana , Slovenia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2018,12,31]]},"reference":[{"key":"2026042718392706471_j_bjmg-2018-0027_ref_001_w2aab2b8c54b1b7b1ab2b1b1Aa","unstructured":"Caroli J, Soupault R, Kossakowski J, Plocker L, Paradowska. [Congenital polycystic dilation of the intrahepatic bile ducts; attempt at classification]. Sem Hop. 1958; 34(8\/2): 488-495\/SP. [French]."},{"key":"2026042718392706471_j_bjmg-2018-0027_ref_002_w2aab2b8c54b1b7b1ab2b1b2Aa","unstructured":"Giovanardi RO. Monolobar Caroli\u2019s disease in an adult. Case report. Hepatogastroenterology. 2003; 50(54): 2185-2187."},{"key":"2026042718392706471_j_bjmg-2018-0027_ref_003_w2aab2b8c54b1b7b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Steinbr\u00fcck K, Enne M, Fernandes R, Martinho JM, Pacheco-moreira LF. Living donor liver transplantation for Caroli\u2019s disease: A report of two cases. ISRN Surg. 2011; 2011): 106487-106490.","DOI":"10.5402\/2011\/106487"},{"key":"2026042718392706471_j_bjmg-2018-0027_ref_004_w2aab2b8c54b1b7b1ab2b1b4Aa","doi-asserted-by":"crossref","unstructured":"Yonem O, Bayraktar Y. Clinical characteristics of Caroli\u2019s disease. 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