{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T01:42:01Z","timestamp":1791855721726,"version":"4.3.4"},"reference-count":16,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2008,5,23]],"date-time":"2008-05-23T00:00:00Z","timestamp":1211500800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>Tyrosinaemia type I (TTI) is an inherited deficiency in the enzyme fumarylacetoacetate hydrolase and is frequently complicated by renal tubular dysfunction which may persist in some patients after hepatic transplantation. Nitisinone has revolutionized the management of TTI but its effect on renal tubular dysfunction has not been described in a large cohort of patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aims:<\/jats:title><jats:p>To document the incidence and progression of renal tubular dysfunction in children with TTI treated with nitisinone at a single centre.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects:<\/jats:title><jats:p>Twenty\u2010one patients with TTI from a single centre were treated with nitisinone for at least 12 months. Median age at first treatment was 17 weeks (range 1 week to 27 months). Nine patients (43%) presented in acute liver failure, seven (33%) had a chronic presentation and five (24%) were detected pre\u2010clinically.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>A retrospective case analysis of plasma phosphate, urinary protein\/creatinine ratio and tubular reabsorption of phosphate was performed for all patients as markers of tubular function. Renal ultrasounds were examined for evidence of nephrocalcinosis and where available, skeletal radiographs for rickets.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>All patients had biochemical evidence of renal tubular dysfunction at presentation. After nitisinone and dietary treatment were started, all three markers normalized within one year. Four children had clinical rickets at presentation (which improved), of whom one had nephrocalcinosis, which did not reverse on nitisinone. No child redeveloped tubular dysfunction after commencing nitisinone.<\/jats:p><\/jats:sec><jats:sec><jats:title>Summary:<\/jats:title><jats:p>All patients with TTI had evidence of tubular dysfunction at presentation and in all cases this resolved with nitisinone and dietary control.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion:<\/jats:title><jats:p>The tubulopathy associated with TTI is reversible.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-008-0817-x","type":"journal-article","created":{"date-parts":[[2008,5,28]],"date-time":"2008-05-28T13:26:33Z","timestamp":1211981193000},"page":"399-402","source":"Crossref","is-referenced-by-count":34,"title":["Renal tubular function in children with tyrosinaemia type I treated with nitisinone"],"prefix":"10.1002","volume":"31","author":[{"given":"S.","family":"Santra","sequence":"first","affiliation":[{"name":"Liver Unit Birmingham Children's Hospital Steelhouse Lane Birmingham B4 6NH UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. A.","family":"Preece","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry Birmingham Children's Hospital Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.\u2010A.","family":"Hulton","sequence":"additional","affiliation":[{"name":"Department of Nephrology Birmingham Children's Hospital Birmingham UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P. J.","family":"McKiernan","sequence":"additional","affiliation":[{"name":"Liver Unit Birmingham Children's Hospital Steelhouse Lane Birmingham B4 6NH UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,5,23]]},"reference":[{"issue":"1","key":"e_1_2_1_2_1","first-page":"49","article-title":"Nitisinone treatment of hepatorenal tyrosinaemia in Quebec","volume":"28","author":"Alvares F","year":"2005","journal-title":"J Inherit Metab Dis"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470050551"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.tp.0000185194.62108.a7"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1089-3261(05)70142-2"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799465"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(92)92685-9"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.2165\/00003495-200666060-00002"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199002153220704"},{"key":"e_1_2_1_10_1","first-page":"1777","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Mitchell G","year":"2001"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014321"},{"key":"e_1_2_1_12_1","first-page":"338","article-title":"Liver transplantation for hereditary tyrosinemia: The Quebec experience","volume":"47","author":"Paradis K","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0059-0"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799438"},{"key":"e_1_2_1_15_1","first-page":"317","article-title":"Visceral pathology of hereditary tyrosinaemia type 1","volume":"47","author":"Russo P","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_16_1","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1542\/peds.89.2.251","article-title":"Rapid improvement in the renal tubular dysfunction associated with tyrosinaemia following hepatic replacement","volume":"89","author":"Shoemaker LR","year":"1992","journal-title":"Pediatrics"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840200513"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0817-x","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0817-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T12:40:50Z","timestamp":1694781650000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-008-0817-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5,23]]},"references-count":16,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,6]]}},"alternative-id":["10.1007\/s10545-008-0817-x"],"URL":"https:\/\/doi.org\/10.1007\/s10545-008-0817-x","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,5,23]]}}}