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

Treatment and follow-up in Hereditary Tyrosinemia type 1 (HT-1) patients require comprehensive clinical and dietary management, which involves drug therapy with NTBC and the laboratory monitoring of parameters, including NTBC levels, succinylacetone (SA), amino acids, and various biomarkers of liver...

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Autores principales: Fuenzalida, Karen, Leal-Witt, María Jesús, Guerrero, Patricio, Hamilton, Valerie, Salazar, María Florencia, Peñaloza, Felipe, Arias, Carolina, Cornejo, Verónica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8706240/
https://www.ncbi.nlm.nih.gov/pubmed/34945128
http://dx.doi.org/10.3390/jcm10245832
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author Fuenzalida, Karen
Leal-Witt, María Jesús
Guerrero, Patricio
Hamilton, Valerie
Salazar, María Florencia
Peñaloza, Felipe
Arias, Carolina
Cornejo, Verónica
author_facet Fuenzalida, Karen
Leal-Witt, María Jesús
Guerrero, Patricio
Hamilton, Valerie
Salazar, María Florencia
Peñaloza, Felipe
Arias, Carolina
Cornejo, Verónica
author_sort Fuenzalida, Karen
collection PubMed
description Treatment and follow-up in Hereditary Tyrosinemia type 1 (HT-1) patients require comprehensive clinical and dietary management, which involves drug therapy with NTBC and the laboratory monitoring of parameters, including NTBC levels, succinylacetone (SA), amino acids, and various biomarkers of liver and kidney function. Good adherence to treatment and optimal adjustment of the NTBC dose, according to clinical manifestations and laboratory parameters, can prevent severe liver complications such as hepatocarcinogenesis (HCC). We analyzed several laboratory parameters for 15 HT-1 patients over one year of follow-up in a cohort that included long-term NTBC-treated patients (more than 20 years), as well as short-term patients (one year). Based on this analysis, we described the overall adherence by our cohort of 70% adherence to drug and dietary treatment. A positive correlation was found between blood and plasma NTBC concentration with a conversion factor of 2.57. Nonetheless, there was no correlation of the NTBC level with SA levels, αFP, liver biomarkers, and amino acids in paired samples analysis. By separating according to the range of the NTBC concentration, we therefore determined the mean concentration of each biochemical marker, for NTBC ranges above 15–25 μmol/L. SA in urine and αFP showed mean levels within controlled parameters in our group of patients. Future studies analyzing a longer follow-up period, as well as SA determination in the blood, are encouraged to confirm the present findings.
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spelling pubmed-87062402021-12-25 NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers Fuenzalida, Karen Leal-Witt, María Jesús Guerrero, Patricio Hamilton, Valerie Salazar, María Florencia Peñaloza, Felipe Arias, Carolina Cornejo, Verónica J Clin Med Article Treatment and follow-up in Hereditary Tyrosinemia type 1 (HT-1) patients require comprehensive clinical and dietary management, which involves drug therapy with NTBC and the laboratory monitoring of parameters, including NTBC levels, succinylacetone (SA), amino acids, and various biomarkers of liver and kidney function. Good adherence to treatment and optimal adjustment of the NTBC dose, according to clinical manifestations and laboratory parameters, can prevent severe liver complications such as hepatocarcinogenesis (HCC). We analyzed several laboratory parameters for 15 HT-1 patients over one year of follow-up in a cohort that included long-term NTBC-treated patients (more than 20 years), as well as short-term patients (one year). Based on this analysis, we described the overall adherence by our cohort of 70% adherence to drug and dietary treatment. A positive correlation was found between blood and plasma NTBC concentration with a conversion factor of 2.57. Nonetheless, there was no correlation of the NTBC level with SA levels, αFP, liver biomarkers, and amino acids in paired samples analysis. By separating according to the range of the NTBC concentration, we therefore determined the mean concentration of each biochemical marker, for NTBC ranges above 15–25 μmol/L. SA in urine and αFP showed mean levels within controlled parameters in our group of patients. Future studies analyzing a longer follow-up period, as well as SA determination in the blood, are encouraged to confirm the present findings. MDPI 2021-12-13 /pmc/articles/PMC8706240/ /pubmed/34945128 http://dx.doi.org/10.3390/jcm10245832 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Fuenzalida, Karen
Leal-Witt, María Jesús
Guerrero, Patricio
Hamilton, Valerie
Salazar, María Florencia
Peñaloza, Felipe
Arias, Carolina
Cornejo, Verónica
NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers
title NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers
title_full NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers
title_fullStr NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers
title_full_unstemmed NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers
title_short NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers
title_sort ntbc treatment monitoring in chilean patients with tyrosinemia type 1 and its association with biochemical parameters and liver biomarkers
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8706240/
https://www.ncbi.nlm.nih.gov/pubmed/34945128
http://dx.doi.org/10.3390/jcm10245832
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