RESUMO
OBJECTIVE: The aim of this study was to describe the prevalence of main hereditary thrombophilias, Janus kinase 2 (JAK2) V617F mutation, antiphospholipid antibody syndrome (APS), and hyperhomocysteinemia in Brazilian children and adolescents diagnosed with portal vein thrombosis (PVT) without associated hepatic disease. METHODS: A cross-sectional study was carried out with 32 children with PVT in accompaniment at Hospital das Clínicas of the Universidade Federal de Minas Gerais from January 1990 to July 2011. Laboratory evaluation of thrombophilias was performed from September 2010 to July 2011. RESULTS: Thirty-two patients were evaluated; 59% were boys. Median age at diagnosis was 2.4 years. Mean time of patients' accompaniment was between 4.7 and 5.2 years. The presence of hereditary and acquired thrombophilias occurred in 34.4% of patients, and 9 of them also showed other risk factors in the previous history evaluation. Risk factors were absent in the previous history of 18 patients (56.3%). Two patients showed persistent high titres of anticardiolipin antibodies. Hyperhomocysteinemia was not observed. One patient was heterozygous for factor V Leiden and prothrombin G20210A mutation (3.1%). Eleven patients (34.4%) showed heterozygous methylenetetrahydrofolate reductase (MTHFR) C677T, and no patient had the JAK2V617F mutation. CONCLUSIONS: Even after investigation of main hereditary and acquired thrombophilia, PVT remains without apparent cause in most patients. Nevertheless, association of local and systemic risk factors seems to be important also in the pediatric age group. Therefore, despite the low prevalence, a complete investigation, which includes both hereditary and acquired thrombophilias, may be necessary.
Assuntos
Mutação , Veia Porta/patologia , Trombofilia/complicações , Trombose Venosa/etiologia , Adolescente , Anticorpos/sangue , Brasil/epidemiologia , Cardiolipinas/imunologia , Criança , Pré-Escolar , Estudos Transversais , Fator V/genética , Feminino , Heterozigoto , Humanos , Hiper-Homocisteinemia/complicações , Lactente , Recém-Nascido , Janus Quinase 2/genética , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2)/genética , Prevalência , Protrombina/genética , Fatores de Risco , Trombofilia/epidemiologia , Trombofilia/genética , Trombofilia/imunologia , Trombose Venosa/genética , Trombose Venosa/imunologiaRESUMO
Objetivo: Avaliar as características epidemiológicas, clínicas e prognósticas de crianças com atresia biliar. Método: Dados sobre portoenterostomia, transplante hepático (TxH), idade no último seguimento e sobrevida foram coletados dos prontuários de pacientes acompanhados em seis centros no Brasil (1982-2008) e comparados em relação às décadas do procedimento cirúrgico. Resultados: Dos 513 pacientes, 76,4% foram submetidos a portoenterostomia [idade: 60,0-94,7 (82,6±32,8) dias] e 46,6% foram submetidos a TxH. Em 69% dos casos, o TxH foi realizado após a portoenterostomia, enquanto em 31% dos casos o TxH foi realizado como cirurgia primária. Os pacientes da região Nordeste foram submetidos a portoenterostomia mais tardiamente do que as crianças das regiões Sul (p = 0,008) e Sudeste (p = 0,0012), embora, mesmo nas duas últimas regiões, a idade no momento da portoenterostomia tenha sido superior ao desejável. Ao longo das décadas, houve aumento progres si vo do número de TxH realizados. A sobrevida global foi de 67,6%. A sobrevida aumentou nas últimas décadas (anos 1980 versus 90, p = 0,002; anos 1980 versus 2000, p < 0,001; anos 1990 versus 2000, p < 0,001). A sobrevida de 4 anos pós-portoenterostomia, com ou sem TxH, foi de 73,4%, inversamente correlacionada à idade no momento da portoenterostomia (80,77,7,60,5% para < 60,61-90, > 90 dias, respectivamente). Os pacientes transplantados apresentaram taxas de sobrevida mais elevadas (88,3%). A sobrevida de 4 anos com fígado nativo foi de 36,8%, inversamente correlacionada à idade no momento da portoenterostomia (54, 33,3, 26,6% para < 60,61-90, > 90 dias, respectivamente). Conclusões: Este estudo multicêntrico demonstrou que o encaminhamento tardio das crianças portadoras de atresia biliar ainda é um problema no Brasil, influenciando a sobrevida destes pacientes. Estratégias que proporcionam o encaminhamento precoce estão sendo desenvolvidas com o objetivo de reduzir a necessidade de transplante hepático nos primeiros anos de vida.
Objective: To evaluate epidemiological, clinical and prognostic characteristics of children with biliary atresia. Methods: Data regarding portoenterostomy, liver transplantation (LTx), age at last follow-up and survival were collected from the records of patients followed up in six Brazilian centers (1982-2008) and compared regarding decades of surgery. Results: Of 513 patients, 76.4% underwent portoenterostomy [age: 60-94.7 (82.6±32.8) days] and 46.6% underwent LTx. In 69% of cases, LTx followed portoenterostomy, whereas in 31% of cases LTx was performed as the primary surgery. Patients from the Northeast region underwent portoenterostomy later than infants from Southern (p = 0.008) and Southeastern (p = 0.0012) Brazil, although even in the latter two regions age at portoenterostomy was higher than desirable. Over the decades, LTx was increasingly performed. Overall survival was 67.6%. Survival increased over the decades (1980s vs. 1990s, p = 0.002; 1980s vs. 2000s, p < 0.001; 1990s vs. 2000s, p < 0.001). The 4-year post portoenterostomy survival, with or without LTx, was 73.4%, inversely correlated with age at portoenterostomy (80, 77.7, 60.5% for < 60, 61-90, > 90 days, respectively). Higher survival rates were observed among transplanted patients (88.3%). The 4-year native liver survival was 36.8%, inversely correlated with age at portoenterostomy (54, 33.3, 26.6% for < 60, 61-90, > 90 days, respectively). Conclusions: This multicenter study showed that late referral for biliary atresia is still a problem in Brazil, affecting patient survival. Strategies to enhance earlier referral are currently being developed aiming to decrease the need for liver transplantation in the first years of life.