Evolución clínica de pacientes chilenos con tirosinemia tipo I tratados con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexanediona (NTBC)

Background: Tyrosinemia type I is an inborn error of metabolism due to deficiency of fumarilacetoacetase. Acute presentation is with liver failure, hypophosphatemic rickets and peripheral neuropathy. Chronic presentation is with visceromegaly and subclinical rickets. The most severe complications ar...

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Autores principales:	Raimann,Erna, Cornejo,Verónica, Arias,Carolina, Cabello,Juan Francisco, Castro,Gabriela, Fernández,Eloina, de la Parra,Alicia
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2012
Materias:	Cyclohexanones Liver neoplasms Tyrosinemias
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872012000200004
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spelling	oai:scielo:S0034-988720120002000042013-04-11Evolución clínica de pacientes chilenos con tirosinemia tipo I tratados con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexanediona (NTBC)Raimann,ErnaCornejo,VerónicaArias,CarolinaCabello,Juan FranciscoCastro,GabrielaFernández,Eloinade la Parra,Alicia Cyclohexanones Liver neoplasms Tyrosinemias Background: Tyrosinemia type I is an inborn error of metabolism due to deficiency of fumarilacetoacetase. Acute presentation is with liver failure, hypophosphatemic rickets and peripheral neuropathy. Chronic presentation is with visceromegaly and subclinical rickets. The most severe complications are hepatic cancer and acute neurological crises. Without treatment, tyrosinemia type 1 is fatal. In 1992 treatment for tyrosinemia type 1 with 2-(2-nitro-4-trifluoromethybenzoyl)-1,3-ciclohexanedione (NTBC) was proposed. A clinical response was reported in 90% of patients. In cases that did not respond, a successful liver transplantation was performed, reducing mortality to 5%. Aim: To report the follow up of 12 patients treated with NTBC. Patients and Methods: Review of clinical records of 12 Chilean cases treated with NTBC at the Instituto de Nutrición y Tecnología de los Alimentos (INTA) from January 2004 until June 2010. Results: In all patients, a rapid metabolic control was achieved. Two patients developed hepatocarcinoma. One of these patients died and one was successfully treated with liver transplantation. One patient died after receiving a liver transplantation. Nine patients have at present good liver function, but 2 had peripheral neuropathy due to late diagnosis and discontinuing NTBC treatment. Conclusions: Treatment with NTBC allows metabolic normalization in tyrosinemia type 1, prevents liver cirrhosis and hepatic cancer, improving survival rates and quality of life in the patients. Neonatal screening is essential for the early diagnosis of this treatable disease, that otherwise may be lethal.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.140 n.2 20122012-02-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872012000200004es10.4067/S0034-98872012000200004
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Cyclohexanones Liver neoplasms Tyrosinemias
spellingShingle	Cyclohexanones Liver neoplasms Tyrosinemias Raimann,Erna Cornejo,Verónica Arias,Carolina Cabello,Juan Francisco Castro,Gabriela Fernández,Eloina de la Parra,Alicia Evolución clínica de pacientes chilenos con tirosinemia tipo I tratados con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexanediona (NTBC)
description	Background: Tyrosinemia type I is an inborn error of metabolism due to deficiency of fumarilacetoacetase. Acute presentation is with liver failure, hypophosphatemic rickets and peripheral neuropathy. Chronic presentation is with visceromegaly and subclinical rickets. The most severe complications are hepatic cancer and acute neurological crises. Without treatment, tyrosinemia type 1 is fatal. In 1992 treatment for tyrosinemia type 1 with 2-(2-nitro-4-trifluoromethybenzoyl)-1,3-ciclohexanedione (NTBC) was proposed. A clinical response was reported in 90% of patients. In cases that did not respond, a successful liver transplantation was performed, reducing mortality to 5%. Aim: To report the follow up of 12 patients treated with NTBC. Patients and Methods: Review of clinical records of 12 Chilean cases treated with NTBC at the Instituto de Nutrición y Tecnología de los Alimentos (INTA) from January 2004 until June 2010. Results: In all patients, a rapid metabolic control was achieved. Two patients developed hepatocarcinoma. One of these patients died and one was successfully treated with liver transplantation. One patient died after receiving a liver transplantation. Nine patients have at present good liver function, but 2 had peripheral neuropathy due to late diagnosis and discontinuing NTBC treatment. Conclusions: Treatment with NTBC allows metabolic normalization in tyrosinemia type 1, prevents liver cirrhosis and hepatic cancer, improving survival rates and quality of life in the patients. Neonatal screening is essential for the early diagnosis of this treatable disease, that otherwise may be lethal.
author	Raimann,Erna Cornejo,Verónica Arias,Carolina Cabello,Juan Francisco Castro,Gabriela Fernández,Eloina de la Parra,Alicia
author_facet	Raimann,Erna Cornejo,Verónica Arias,Carolina Cabello,Juan Francisco Castro,Gabriela Fernández,Eloina de la Parra,Alicia
author_sort	Raimann,Erna
title	Evolución clínica de pacientes chilenos con tirosinemia tipo I tratados con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexanediona (NTBC)
title_short	Evolución clínica de pacientes chilenos con tirosinemia tipo I tratados con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexanediona (NTBC)
title_full	Evolución clínica de pacientes chilenos con tirosinemia tipo I tratados con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexanediona (NTBC)
title_fullStr	Evolución clínica de pacientes chilenos con tirosinemia tipo I tratados con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexanediona (NTBC)
title_full_unstemmed	Evolución clínica de pacientes chilenos con tirosinemia tipo I tratados con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexanediona (NTBC)
title_sort	evolución clínica de pacientes chilenos con tirosinemia tipo i tratados con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexanediona (ntbc)
publisher	Sociedad Médica de Santiago
publishDate	2012
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872012000200004
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Evolución clínica de pacientes chilenos con tirosinemia tipo I tratados con 2-(2-nitro-4-trifluorometilbenzoil)-1,3-ciclohexanediona (NTBC)

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