ResumoObjetivos: Apresentar uma revisão atualizada sobre atresia das vias biliares extra-hepáticas, com ênfase em etiopatogenia, abordagens diagnósticas e terapêuticas e prognóstico. Conclusão:A atresia das vias biliares extra-hepáticas continua sendo a principal indicação de transplante hepático em crianças, e a mudança deste panorama depende de um melhor entendimento da etiopatogenia da obstrução biliar nos diferentes fenótipos da doença.Investigações futuras a respeito do papel do interferon gama e de outras citocinas são necessárias para avaliar se esses aspectos seriam potenciais alvos de intervenção terapêutica.J Pediatr (Rio J). 2007;83(2):105-120: Atresia das vias biliares extra-hepáticas, etiopatogenia, diagnóstico, tratamento e prognóstico. AbstractObjective: To provide an updated review on extrahepatic biliary atresia, focusing mainly on its etiopathogenesis, diagnosis, treatment and prognosis.Sources: MEDLINE and PubMed databases were searched using the following keywords: biliary atresia, etiopathogenesis, diagnosis, treatment, prognosis, children. Summary of the findings:Extrahepatic biliary atresia is the main indication for liver transplantation among pediatric patients. As to its

Partial external biliary diversion is effective in the long-term treatment of pruritus refractory to medical therapy and provides a favorable outcome in a select group of patients with chronic intrahepatic cholestasis without cirrhosis.

Hyper-IgM (HIGM) syndrome is a heterogeneous group of disorders characterized by normal or elevated serum IgM levels associated with absent or decreased IgG, IgA and IgE. Here we summarize data from the HIGM syndrome Registry of the Latin American Society for Immunodeficiencies (LASID). Of the 58 patients from 51 families reported to the registry with the clinical phenotype of HIGM syndrome, molecular defects were identified in 37 patients thus far. We retrospectively analyzed the clinical, immunological and molecular data from these 37 patients. CD40 ligand (CD40L) deficiency was found in 35 patients from 25 families and activation-induced cytidine deaminase (AID) deficiency in 2 unrelated patients. Five previously unreported mutations were identified in the CD40L gene (CD40LG). Respiratory tract infections, mainly pneumonia, were the most frequent clinical manifestation. Previously undescribed fungal and opportunistic infections were observed in CD40L-deficient patients but not in the two patients with AID deficiency. These include the first cases of pneumonia caused by Mycoplasma pneumoniae, Serratia marcescens or Aspergillus sp. and diarrhea caused by Microsporidium sp. or Isospora belli. Except for four CD40L-deficient patients who died from complications of presumptive central nervous system infections or sepsis, all patients reported in this study are alive. Four CD40L-deficient patients underwent successful bone marrow transplantation. This report characterizes the clinical and genetic spectrum of HIGM syndrome in Latin America and expands the understanding of the genotype and phenotype of this syndrome in tropical areas.

there have been few randomized controlled trials that assessed the management of GERD in children and no examination can be considered the gold standard for GERD diagnosis. For these reasons, there are exaggerations in the diagnosis and treatment of this disease, which need to be corrected.

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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 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 postportoenterostomy 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. J Pediatr (Rio J). 2010;86(6):473-479:Biliary atresia, portoenterostomy, hepatic, surgery, diagnosis, differential, prognosis. ResumoObjetivo: Avaliar as características epidemiológicas, clínicas e prognósticas de crianças com atresia biliar. 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 progressivo 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). Método Conclusões:Este estudo multicêntrico demonstrou que o encaminhamento tardio das crianças portad...

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