RESUMO
Gaucher's disease and alpha-1 antitrypsin deficiency are genetic diseases that can cause different kinds of liver damage, but are rarely associated with cirrhosis. Here, we describe the case of a patient with both diseases who presented with cirrhosis, followed by liver failure and death. Although the interaction between these two diseases remains unclear, we suspect the involvement of an epigenetic factor in the evolution of the aggressive liver disease.
Assuntos
Epigênese Genética , Doença de Gaucher/genética , Cirrose Hepática/genética , Falência Hepática/genética , Deficiência de alfa 1-Antitripsina/genética , Progressão da Doença , Terapia de Reposição de Enzimas , Evolução Fatal , Feminino , Doença de Gaucher/complicações , Doença de Gaucher/diagnóstico , Predisposição Genética para Doença , Humanos , Cirrose Hepática/diagnóstico , Falência Hepática/diagnóstico , Pessoa de Meia-Idade , Fenótipo , Fatores de Risco , Resultado do Tratamento , Deficiência de alfa 1-Antitripsina/complicações , Deficiência de alfa 1-Antitripsina/diagnósticoRESUMO
ABSTRACT Background This study aimed to evaluate the clinical effectiveness in terms of sustained virological response and tolerability of available second generation direct-acting antivirals in Brazilian patients. Methods This was a retrospective observational study conducted in six centers in Southern Brazil. The sample comprised adult patients who were chronically infected with hepatitis C virus, regardless of virus genotype, fibrosis stage, or prior treatment. Statistical analysis was performed to compare the effectiveness among the treatments, and also to uncover the factors influencing the achievement of sustained virological response. Results A total of 296 patients were included in the study, with the majority receiving sofosbuvir with daclatasvir (59%) or sofosbuvir with simeprevir (26%). Overall sustained virological response rates were approximately 91.6%. For genotype 1, sofosbuvir with daclatasvir had an sustained virological response rate of approximately 95%, while the sustained virological response rate of sofosbuvir with simeprevir was 92%; this difference was statistically significant only for subtype 1b. The only treatment used for genotype 3 patients was sofosbuvir with daclatasvir, and lower rates of sustained virological response were observed for this group, compared to genotype 1 (84% versus 95%, p < 0.05). Apart from this difference between genotypes, and a difference between patients who achieved rapid virologic response compared with those who did not, there were no other statistically significant factors associated with sustained virological response. Conclusions The results point to the effectiveness of second-generation direct-acting antivirals in hepatitis C virus Brazilian patients, especially those with genotype 1. Furthermore, that patients with genotype 3 need more attention and adjustments in available treatment options.
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Antivirais/farmacologia , Hepatite C Crônica/tratamento farmacológico , Valores de Referência , Ribavirina/farmacologia , Fatores de Tempo , Brasil , Modelos Logísticos , Reação em Cadeia da Polimerase , Estudos Retrospectivos , Carga Viral , Hepatite C Crônica/complicações , Relação Dose-Resposta a Droga , Simeprevir/farmacologia , Sofosbuvir/farmacologia , Resposta Viral Sustentada , Imidazóis/farmacologia , Cirrose Hepática/virologiaRESUMO
BACKGROUND: This study aimed to evaluate the clinical effectiveness in terms of sustained virological response and tolerability of available second generation direct-acting antivirals in Brazilian patients. METHODS: This was a retrospective observational study conducted in six centers in Southern Brazil. The sample comprised adult patients who were chronically infected with hepatitis C virus, regardless of virus genotype, fibrosis stage, or prior treatment. Statistical analysis was performed to compare the effectiveness among the treatments, and also to uncover the factors influencing the achievement of sustained virological response. RESULTS: A total of 296 patients were included in the study, with the majority receiving sofosbuvir with daclatasvir (59%) or sofosbuvir with simeprevir (26%). Overall sustained virological response rates were approximately 91.6%. For genotype 1, sofosbuvir with daclatasvir had an sustained virological response rate of approximately 95%, while the sustained virological response rate of sofosbuvir with simeprevir was 92%; this difference was statistically significant only for subtype 1b. The only treatment used for genotype 3 patients was sofosbuvir with daclatasvir, and lower rates of sustained virological response were observed for this group, compared to genotype 1 (84% versus 95%, p<0.05). Apart from this difference between genotypes, and a difference between patients who achieved rapid virologic response compared with those who did not, there were no other statistically significant factors associated with sustained virological response. CONCLUSIONS: The results point to the effectiveness of second-generation direct-acting antivirals in hepatitis C virus Brazilian patients, especially those with genotype 1. Furthermore, that patients with genotype 3 need more attention and adjustments in available treatment options.