{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,24]],"date-time":"2026-04-24T17:46:15Z","timestamp":1777052775146,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,6,1]],"date-time":"2010-06-01T00:00:00Z","timestamp":1275350400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. pediatr. gastroenterol. nutr."],"published-print":{"date-parts":[[2010,6]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives:<\/jats:title><jats:p>3\u03b2\u2010Hydroxy\u2010\u03945\u2010C27\u2010steroid dehydrogenase\/isomerase deficiency is a bile acid synthesis defect responsive to primary bile acids. We reviewed its clinical features and response to treatment with a mixture of ursodeoxycholic (UDCA) and chenodeoxycholic acid (CDCA) to titrate the dose of supplements required for disease control.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and Methods:<\/jats:title><jats:p>We studied our patients by liquid chromatography\u2010tandem mass spectrometry, liver function tests, and histology. After diagnosis all of the patients received a balanced mixture of UDCA\/CDCA and the dose was titrated according to urinary levels of 3\u03b2,7\u03b1\u2010dihydroxy\u20105\u2010cholenoic acid (u\u20103\u03b2\u2010D\u2010OH\u20105C).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Five patients presenting with giant cell hepatitis, biliary cirrhosis, and cryptogenic cirrhosis (1 each), and picked up by neonatal screening (2 patients) were diagnosed at a median age of 2.5 years (range 0.1\u20135.5). Normal levels of u\u20103\u03b2\u2010D\u2010OH\u20105C were achieved after 4 months (range 3\u201328 months) from the start of the treatment. The minimum dose of UDCA\/CDCA required to maintain normal u\u20103\u03b2\u2010D\u2010OH\u20105C levels was 5\/5 mg \u00b7 kg<jats:sup>\u22121<\/jats:sup> \u00b7 day<jats:sup>\u22121<\/jats:sup>. A follow\u2010up biopsy in 2 patients showed no progression of liver disease.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>A mixture of UDCA\/CDCA can effectively control 3\u03b2\u2010hydroxy\u2010\u03945\u2010C27\u2010steroid dehydrogenase\/isomerase deficiency. Dose titration by liquid chromatography\u2010tandem mass spectrometry warrants the maintenance of negative feedback on the abnormal synthetic pathway and avoids disease progression.<\/jats:p><\/jats:sec>","DOI":"10.1097\/mpg.0b013e3181b97bd2","type":"journal-article","created":{"date-parts":[[2010,4,15]],"date-time":"2010-04-15T10:59:40Z","timestamp":1271329180000},"page":"655-660","source":"Crossref","is-referenced-by-count":23,"title":["Titration of Bile Acid Supplements in 3\u03b2\u2010Hydroxy\u2010\u03945\u2010C27\u2010Steroid Dehydrogenase\/Isomerase Deficiency"],"prefix":"10.1002","volume":"50","author":[{"given":"L","family":"Riello","sequence":"first","affiliation":[{"name":"Department of Paediatrics Paediatric Liver Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"D'Antiga","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Paediatric Liver Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Guido","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Science and Special Therapies University of Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R","family":"Alaggio","sequence":"additional","affiliation":[{"name":"Department of Diagnostic Science and Special Therapies University of Padova Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Giordano","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Paediatric Liver Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L","family":"Zancan","sequence":"additional","affiliation":[{"name":"Department of Paediatrics Paediatric Liver Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,6]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10024-002-1201-8"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112915"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-985073"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1440-1754.2001.00751.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mpg.0000226384.71859.16"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)83280-9"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.80.5.463"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1442-200x.2000.01292.x"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-021580"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mpg.0000226386.79483.7b"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1017\/CBO9780511547409.033"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4613-0901-7_5"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmj.319.7208.471"},{"key":"e_1_2_5_15_1","first-page":"MT21","article-title":"Urinary bile acid profile in children with inborn errors of bile acid metabolism and chronic cholestasis; screening technique using electrospray tandem mass\u2010spectrometry (ES\/MS\/MS)","volume":"9","author":"Yousef IM","year":"2003","journal-title":"Med Sci Monit"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)32342-7"},{"key":"e_1_2_5_17_1","first-page":"1308","volume-title":"Pediatric Gastrointestinal Disease: Pathophysiology, Diagnosis, Management","author":"Setchell KDR","year":"2004"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840180513"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(00)00078-2"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.38.4.623"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.MPG.0000170600.80640.88"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.65.10.1121"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)42035-8"}],"container-title":["Journal of Pediatric Gastroenterology and Nutrition"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1097\/MPG.0b013e3181b97bd2","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,18]],"date-time":"2024-01-18T13:35:07Z","timestamp":1705584907000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1097\/MPG.0b013e3181b97bd2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6]]},"references-count":22,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,6]]}},"alternative-id":["10.1097\/MPG.0b013e3181b97bd2"],"URL":"https:\/\/doi.org\/10.1097\/mpg.0b013e3181b97bd2","archive":["Portico"],"relation":{},"ISSN":["0277-2116","1536-4801"],"issn-type":[{"value":"0277-2116","type":"print"},{"value":"1536-4801","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,6]]}}}