{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T00:20:05Z","timestamp":1767918005911,"version":"3.49.0"},"reference-count":0,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T00:00:00Z","timestamp":1660608000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T00:00:00Z","timestamp":1660608000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Gastroenterol"],"abstract":"<jats:p>A 42-year-old man with no relevant past medical history presented with intermittent mild icterus and no signs of chronic liver disease. Laboratory tests were notable for hyperbilirubinemia (total 7.97 mg\/dL, direct 5.37 mg\/dL), bilirubinuria, no signs of hemolysis, normal liver tests and lipids profile. Abdominal ultrasound was unremarkable. A panel of chronic liver diseases was negative except for increased serum (147.4 \u03bcg\/dL) and urinary (179 \u03bcg\/24 h) copper, with normal ceruloplasmin. No other Leipzig criteria for Wilson\u2019s disease were found, including a negative test for &lt;i&gt;ATP7B&lt;\/i&gt; gene mutations (by exome sequencing). Total urinary coproporphyrin was normal with predominance of isomer I (86% of total urinary coproporphyrin output). Clinical and laboratorial profile was compatible with Dubin-Johnson syndrome; however, exome sequencing and search for deletions in the &lt;i&gt;ABBC2&lt;\/i&gt; gene (encoding MRP2) only found a heterozygous potentially pathogenic variant (c.1483A&amp;#x3e;G \u2013 p.Lys495Glu). Additional extended molecular analysis of genes implicated in bilirubin metabolism found a homozygous deletion of a region encompassing exons 4\u201316 of &lt;i&gt;SLCO1B3&lt;\/i&gt; gene (encoding OATP1B3) and all &lt;i&gt;SLCO1B1&lt;\/i&gt; exons (encoding OATP1B1), thereby establishing Rotor syndrome diagnosis. Rotor and Dubin-Johnson syndromes are rare autosomal recessive liver diseases characterized by chronic conjugated hyperbilirubinemia, caused by the absence of the hepatic function OATP1B1\/B3 (leading to impaired hepatic bilirubin reuptake and storage) and MRP2 transporters (leading to impaired hepatic bilirubin excretion), respectively. We report a case of compound hereditary hyperbilirubinemia with a misleading presentation with special focus on its diagnosis, particularly the advantage of extensive unbiased genetic testing by dedicated laboratories. With this case, we aim to highlight the necessity of establishing a diagnosis, reassuring the patient, and avoiding unnecessary invasive and costly diagnostic procedures. <\/jats:p>","DOI":"10.1159\/000525517","type":"journal-article","created":{"date-parts":[[2022,8,16]],"date-time":"2022-08-16T21:03:59Z","timestamp":1660683839000},"page":"452-455","source":"Crossref","is-referenced-by-count":2,"title":["Rotor Syndrome Presenting as Dubin-Johnson Syndrome"],"prefix":"10.1159","volume":"16","author":[{"given":"Mariana","family":"Morais","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7607-2057","authenticated-orcid":false,"given":"Philippe","family":"Couvert","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"J\u00e9ru","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana Verdelho","family":"Machado","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2022,8,16]]},"container-title":["Case Reports in Gastroenterology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/525517","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/525517","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:05:59Z","timestamp":1745420759000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000525517"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,8,16]]},"references-count":0,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,9,12]]}},"URL":"https:\/\/doi.org\/10.1159\/000525517","archive":["Portico"],"relation":{},"ISSN":["1662-0631"],"issn-type":[{"value":"1662-0631","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,8,16]]}}}