Literature DB >> 25667247

Hepatocellular carcinoma in tyrosinemia type 1 without clear increase of AFP.

Willem G van Ginkel1, Annette S H Gouw2, Eric J van der Jagt3, Koert P de Jong4, Henkjan J Verkade5, Francjan J van Spronsen6.   

Abstract

Patients with hereditary tyrosinemia type 1 have an elevated risk of developing hepatocellular carcinoma, especially if initiation of treatment with 2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexanedione is delayed. Hepatocellular carcinoma can usually be suspected when there are increased α1-fetoprotein levels and characteristic imaging features. The present case shows that a lack of a clear increase in α1-fetoprotein should still lead to consideration of liver transplantation when imaging features change.
Copyright © 2015 by the American Academy of Pediatrics.

Entities:  

Keywords:  2-(2-nitro-4-trifluoro-methylbenzoyl)-1,3-cyclohexanedione; NTBC; hepatocellular carcinoma; tyrosinemia type 1; α-fetoprotein

Mesh:

Substances:

Year:  2015        PMID: 25667247     DOI: 10.1542/peds.2014-1913

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


  8 in total

1.  Liver cirrhosis in children - the role of imaging in the diagnostic pathway.

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Review 2.  Clinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias.

Authors:  Teodoro Jerves; Nenad Blau; Carlos R Ferreira
Journal:  Mol Genet Metab       Date:  2022-03-28       Impact factor: 4.204

3.  Daily variation of NTBC and its relation to succinylacetone in tyrosinemia type 1 patients comparing a single dose to two doses a day.

Authors:  Nienke S Kienstra; Hannah E van Reemst; Willem G van Ginkel; Anne Daly; Esther van Dam; Anita MacDonald; Johannes G M Burgerhof; Pim de Blaauw; Patrick J McKiernan; M Rebecca Heiner-Fokkema; Francjan J van Spronsen
Journal:  J Inherit Metab Dis       Date:  2017-11-23       Impact factor: 4.982

Review 4.  Iron at the Interface of Hepatocellular Carcinoma.

Authors:  Rossana Paganoni; André Lechel; Maja Vujic Spasic
Journal:  Int J Mol Sci       Date:  2021-04-15       Impact factor: 5.923

5.  Identification of circulating microRNAs during the liver neoplastic process in a murine model of hereditary tyrosinemia type 1.

Authors:  Francesca Angileri; Geneviève Morrow; Jean-Yves Scoazec; Nicolas Gadot; Vincent Roy; Suli Huang; Tangchun Wu; Robert M Tanguay
Journal:  Sci Rep       Date:  2016-06-10       Impact factor: 4.379

Review 6.  Diagnosis and treatment of tyrosinemia type I: a US and Canadian consensus group review and recommendations.

Authors:  Jeffrey M Chinsky; Rani Singh; Can Ficicioglu; Clara D M van Karnebeek; Markus Grompe; Grant Mitchell; Susan E Waisbren; Muge Gucsavas-Calikoglu; Melissa P Wasserstein; Katie Coakley; C Ronald Scott
Journal:  Genet Med       Date:  2017-08-03       Impact factor: 8.822

7.  Revisiting hereditary tyrosinemia Type 1-spectrum of radiological findings.

Authors:  Sana Shaikh; Asma Qureshi; Syed Mohammad Faiq
Journal:  BJR Case Rep       Date:  2018-11-07

8.  NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers.

Authors:  Karen Fuenzalida; María Jesús Leal-Witt; Patricio Guerrero; Valerie Hamilton; María Florencia Salazar; Felipe Peñaloza; Carolina Arias; Verónica Cornejo
Journal:  J Clin Med       Date:  2021-12-13       Impact factor: 4.241

  8 in total

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