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        "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">La tirosinemia tipo I es una enfermedad hereditaria autos&#243;mica recesiva causada por la actividad deficiente de la enzima fumarilacetoacetasa&#46; El tratamiento con 2-&#40;2-nitro- 4-trifluorometilbenzoil&#41;-1&#44;3-ciclohexadiona &#40;NTBC&#41;&#44; un inhibidor del 4-hidroxifenilpiruvato dioxigenasa&#44; ha sido usado con &#233;xito en los &#250;ltimos a&#241;os&#46; Se ha evaluado la respuesta cl&#237;nica y bioqu&#237;mica al tratamiento con NTBC en un paciente de 18 a&#241;os con una forma cr&#243;nica de tirosinemia tipo I&#44; con hallazgos cl&#237;nicos de raquitismo por vitamina D resistente junto con osteoporosis y m&#250;ltiples fracturas y deformidades esquel&#233;ticas&#46; Con el tratamiento los metabolitos t&#243;xicos llegaron a ser indetectables con actividad enzim&#225;tica de la porfobilin&#243;geno sintetasa normalizada&#46; La funci&#243;n renal mejor&#243;&#44; la hemoglobina se normaliz&#243; y la concentraci&#243;n de alfafetoprote&#237;na disminuy&#243;&#46; Su estado general mejor&#243; de manera espectacular&#46; Sin embargo&#44; durante el segundo a&#241;o de tratamiento&#44; la concentraci&#243;n de alfafetoprote&#237;na aument&#243; considerablemente y el paciente desarroll&#243; un carcinoma hepatocelular&#46; El tratamiento con NTBC debe considerarse&#44; incluso en casos de tirosinemia tipo I avanzados&#44; como terapia paliativa&#46;</p>"
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Evolución de un caso de tirosinemia crónica tipo I tratado con NTBC
Evolution of a case of tyrosinemia type i treated with NTBC
J. Ros Viladomsa,
Autor para correspondencia
rjimenez@hsjdbcn.org

Correspondencia: Servicio de Pediatría. Unidad Integrada Hospital Sant Joan de Déu-Hospital Clínic. P.° Sant Joan de Déu, 2. Esplugues de Llobregat. 08950 Barcelona.
, M.aA. Vilaseca Buscàb, N. Lambruschini Ferric, A. Mas Comasd, E. González Pascuala, E. Holmee
a Servicio de Pediatría
b Servicio de Unidad de Enfermedades Metabólicas
c Servicio de Unidad de Nutrición
d Servicio de Farmacia
e Sahlgren's Hospital Universidad de Göteborg. Suecia. Unitat Integrada Hospital Sant Joan de Déu-Clínic. Universitat de Barcelona
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        "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">La tirosinemia tipo I es una enfermedad hereditaria autos&#243;mica recesiva causada por la actividad deficiente de la enzima fumarilacetoacetasa&#46; El tratamiento con 2-&#40;2-nitro- 4-trifluorometilbenzoil&#41;-1&#44;3-ciclohexadiona &#40;NTBC&#41;&#44; un inhibidor del 4-hidroxifenilpiruvato dioxigenasa&#44; ha sido usado con &#233;xito en los &#250;ltimos a&#241;os&#46; Se ha evaluado la respuesta cl&#237;nica y bioqu&#237;mica al tratamiento con NTBC en un paciente de 18 a&#241;os con una forma cr&#243;nica de tirosinemia tipo I&#44; con hallazgos cl&#237;nicos de raquitismo por vitamina D resistente junto con osteoporosis y m&#250;ltiples fracturas y deformidades esquel&#233;ticas&#46; Con el tratamiento los metabolitos t&#243;xicos llegaron a ser indetectables con actividad enzim&#225;tica de la porfobilin&#243;geno sintetasa normalizada&#46; La funci&#243;n renal mejor&#243;&#44; la hemoglobina se normaliz&#243; y la concentraci&#243;n de alfafetoprote&#237;na disminuy&#243;&#46; Su estado general mejor&#243; de manera espectacular&#46; Sin embargo&#44; durante el segundo a&#241;o de tratamiento&#44; la concentraci&#243;n de alfafetoprote&#237;na aument&#243; considerablemente y el paciente desarroll&#243; un carcinoma hepatocelular&#46; El tratamiento con NTBC debe considerarse&#44; incluso en casos de tirosinemia tipo I avanzados&#44; como terapia paliativa&#46;</p>"
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        "resumen" => "<p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">Tyrosinemia type I is an autosomal recessive inherited disorder caused by deficient fumarylacetoacetase activity&#46; Treatment with 2-&#40;2-nitro-4-trifluoro-methylbenzoyl&#41;- 1&#44;3-cyclohexanedione &#40;NTBC&#41;&#44; an inhibitor of 4-hydroxyphenylpyruvate dioxygenase&#44; has successfully been applied for the last few years&#46; Our aim was to evaluate the clinical and biochemical response to treatment with NTBC of a 18-year-old patient with a chronic form of tyrosinemia type I&#44; whose main clinical feature was vitamin D-resistant rickets leading to severe osteoporosis with multiple bone fractures and skeletal deformities&#46; After treatment&#44; toxic metabolites became undetectable and porphobilinogen synthase activity returned to normal&#46; Renal function improved&#44; blood hemoglobin returned to normal and alfa-fetoprotein decreased&#46; The patient&#39;s general condition greatly improved&#46; However&#44; the alfa-fetoprotein concentration slowly increased during the second year of NTBC treatment and hepatocellular carcinoma developed&#46; NTBC treatment should be considered even in advanced cases of tyrosinemia type I&#44; although only as a palliative therapy&#46;</p>"
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ISSN: 16954033
Idioma original: Español
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