RESUMO
BACKGROUND/PURPOSE: A small number of Hirschsprung disease (HD) patients develop inflammatory bowel disease (IBD)-like symptoms after pullthrough surgery. The etiology and pathophysiology of Hirschsprung-associated IBD (HD-IBD) remains unknown. This study aims to further characterize HD-IBD, to identify potential risk factors and to evaluate response to treatment in a large group of patients. METHODS: Retrospective study of patients diagnosed with IBD after pullthrough surgery between 2000 and 2021 at 17 institutions. Data regarding clinical presentation and course of HD and IBD were reviewed. Effectiveness of medical therapy for IBD was recorded using a Likert scale. RESULTS: There were 55 patients (78% male). 50% (n = 28) had long segment disease. Hirschsprung-associated enterocolitis (HAEC) was reported in 68% (n = 36). Ten patients (18%) had Trisomy 21. IBD was diagnosed after age 5 in 63% (n = 34). IBD presentation consisted of colonic or small bowel inflammation resembling IBD in 69% (n = 38), unexplained or persistent fistula in 18% (n = 10) and unexplained HAEC >5 years old or unresponsive to standard treatment in 13% (n = 7). Biological agents were the most effective (80%) medications. A third of patients required a surgical procedure for IBD. CONCLUSION: More than half of the patients were diagnosed with HD-IBD after 5 years old. Long segment disease, HAEC after pull through operation and trisomy 21 may represent risk factors for this condition. Investigation for possible IBD should be considered in children with unexplained fistulae, HAEC beyond the age of 5 or unresponsive to standard therapy, and symptoms suggestive of IBD. Biological agents were the most effective medical treatment. LEVEL OF EVIDENCE: Level 4.
Assuntos
Síndrome de Down , Enterocolite , Doença de Hirschsprung , Doenças Inflamatórias Intestinais , Criança , Humanos , Masculino , Lactente , Pré-Escolar , Feminino , Doença de Hirschsprung/complicações , Doença de Hirschsprung/cirurgia , Doença de Hirschsprung/diagnóstico , Síndrome de Down/complicações , Estudos Retrospectivos , Opinião Pública , Enterocolite/epidemiologia , Enterocolite/etiologia , Enterocolite/diagnóstico , Doenças Inflamatórias Intestinais/complicações , Fatores BiológicosRESUMO
BACKGROUND: A suboptimal meta-analysis with misleading conclusions, frequently published in the healthcare journals, can compromise decision making in clinical practice. OBJECTIVE: To evaluate the reporting quality, methodological quality, and risk of bias of meta-analyses of pharmacy services. METHODS: Systematic searches to identify all the meta-analyses reporting the effect of pharmacy services were performed in PubMed, Scopus, and Web of Science. The reporting quality, the methodological quality, and the risk of bias of the included meta-analyses were evaluated using PRISMA checklist, R-AMSTAR, and ROBIS, respectively. RESULTS: A total of 109 meta-analyses were eligible for the study. The heterogeneity, the quality of evidence, and the quality analyses were poorly reported on authors' conclusions (14.3%, 14.7%, and 17.4%, respectively). The median scores of PRISMA and R-AMSTAR tolls were 24 (IQR 21.75-25), and 30 (IQR 27-32.5), respectively. Additionally, most of the studies were considered as high risk of bias (n = 83, 76.1%). No association between the date of publication and guideline compliance exists. PRISMA score was higher in studies published in high impact factor journals (rho = 0.313; p = 0.002), in articles that reported the quality of evidence obtained (p = 0.018), and in those that stated the need for future studies in their conclusions (p = 0.011). R-AMSTAR score was higher in studies published in high impact factor journals (rho = 0.338; p = 0.001), in those which reported the quality of evidence (p = 0.002), and in articles that described the quality analyses in their conclusions (p = 0.046). An association between the risk of bias and the recognition of the need for further studies in their conclusions (p = 0.041) was also found. CONCLUSION: The rapid increase of the meta-analyses of pharmacy services was not associated with higher quality. Mechanistic meta-analyses with poor conclusions are commonly published. Quality of the analyses, strength of evidence, heterogeneity, and absence of confrontation with current guidelines are rarely considered when synthetizing evidence and making recommendations.
Assuntos
Assistência Farmacêutica , Viés , Lista de Checagem , Humanos , Metanálise como Assunto , Relatório de PesquisaRESUMO
La pancreatitis recurrente (PR) ocurre en el 15-36 % de las pancreatitis agudas, en la edad pediátrica. Se realizó un estudio descriptivo y transversal, para determinar la etiología y la evolución en menores de 18 años con diagnóstico de PR entre 2008-2016 en el Hospital Garrahan. Se incluyeron 10 pacientes, el 90 % de sexo femenino. La mediana de edad fue de 11 años. La mediana del número de episodios fue de nueve. La ecografía abdominal y/o la colangioresonancia iniciales mostraron hallazgos patológicos en cuatro pacientes. De los seis pacientes con estudios iniciales normales, tres desarrollaron signos de pancreatitis crónica (PC), uno con estenosis del Wirsung sugestiva de pancreatitis autoinmune. El 40 % de los pacientes tuvo diagnóstico etiológico. En el seguimiento, tres pacientes con pancreatitis idiopática desarrollaron PC. Los factores genéticos podrían jugar un papel en los casos considerados idiopáticos.
Recurrent pancreatitis (RP) occurs in children between 15-35 % of the cases. To determine the etiology and outcome of RP in children a descriptive, cross-sectional cohort study was conducted in children under 18 years of age with RP seen at Hospital Garrahan between 2008-2016. Of 10 patients with RP, 90 % were girls. Median age of the diagnoses of RP was 11. Median number of episodes was 9. Initial abdominal ultrasonography and/or magnetic resonance cholangiopancreatography were abnormal in four patients. Of six patients with normal studies at onset, three developed signs of chronic pancreatitis (CP) and one stenosis of the duct of Wirsung suggestive of autoimmune pancreatitis. In 40 % of our patients, the etiology was determined. On follow-up, three patients with idiopathic pancreatitis developed CP. Genetic factors may play a role in patients considered to have idiopathic pancreatitis.
Assuntos
Humanos , Lactente , Pré-Escolar , Criança , Adolescente , Pancreatite Crônica/diagnóstico , Pancreatite Crônica/etiologia , Doença Aguda , Epidemiologia Descritiva , Estudos TransversaisRESUMO
Recurrent pancreatitis (RP) occurs in children between 15- 35 % of the cases. To determine the etiology and outcome of RP in children a descriptive, cross-sectional cohort study was conducted in children under 18 years of age with RP seen at Hospital Garrahan between 2008-2016. Of 10 patients with RP, 90 % were girls. Median age of the diagnoses of RP was 11. Median number of episodes was 9. Initial abdominal ultrasonography and/or magnetic resonance cholangiopancreatography were abnormal in four patients. Of six patients with normal studies at onset, three developed signs of chronic pancreatitis (CP) and one stenosis of the duct of Wirsung suggestive of autoimmune pancreatitis. In 40 % of our patients, the etiology was determined. On follow-up, three patients with idiopathic pancreatitis developed CP. Genetic factors may play a role in patients considered to have idiopathic pancreatitis.
La pancreatitis recurrente (PR) ocurre en el 15-36 % de las pancreatitis agudas, en la edad pediátrica. Se realizó un estudio descriptivo y transversal, para determinar la etiología y la evolución en menores de 18 años con diagnóstico de PR entre 2008-2016 en el Hospital Garrahan. Se incluyeron 10 pacientes, el 90 % de sexo femenino. La mediana de edad fue de 11 años. La mediana del número de episodios fue de nueve. La ecografía abdominal y/o la colangioresonancia iniciales mostraron hallazgos patológicos en cuatro pacientes. De los seis pacientes con estudios iniciales normales, tres desarrollaron signos de pancreatitis crónica (PC), uno con estenosis del Wirsung sugestiva de pancreatitis autoinmune. El 40 % de los pacientes tuvo diagnóstico etiológico. En el seguimiento, tres pacientes con pancreatitis idiopática desarrollaron PC. Los factores genéticos podrían jugar un papel en los casos considerados idiopáticos.
Assuntos
Pancreatite Crônica , Adolescente , Criança , Colangiopancreatografia por Ressonância Magnética , Estudos de Coortes , Estudos Transversais , Feminino , Humanos , Pancreatite Crônica/diagnóstico , Pancreatite Crônica/etiologia , UltrassonografiaRESUMO
Burkitt lymphoma/leukemia (BL/L) is an aggressive oncohematological disease. This study evaluated the population-based prognosis and survival on BL/L as well as if BL/L behaved as a risk factor for the development of second primary cancers (SPCs) and if other first tumors behaved as risk factors for the occurrence of BL/L as an SPC. A retrospective cohort using the Surveillance, Epidemiology and End Results (SEER) Program (2008-2016) was performed. Kaplan-Meier, time-dependent covariate Cox regression and Poisson regression models were conducted. Overall, 3094 patients were included (median, 45 years; IQR, 22-62). The estimated overall survival was 65.4 months (95% CI, 63.6-67.3). Significantly more deaths occurred for older patients, black race, disease at an advanced stage, patients without chemotherapy/surgery and patients who underwent radiotherapy. Hodgkin lymphomas (nodal) (RR, 7.6 (3.9-15.0; p < 0.001)), Kaposi sarcomas (34.0 (16.8-68.9; p < 0.001)), liver tumors (3.4 (1.2-9.3; p = 0.020)) and trachea, mediastinum and other respiratory cancers (15.8 (2.2-113.9; p = 0.006)) behaved as risk factors for the occurrence of BL/L as an SPC. BL/L was a risk factor for the occurrence of SPCs as acute myeloid leukemias (4.6 (2.1-10.4; p < 0.001)), Hodgkin lymphomas (extranodal) (74.3 (10.0-549.8; p < 0.001)) and Kaposi sarcomas (35.1 (12.1-101.4; p < 0.001)). These results may assist the development of diagnostic and clinical recommendations for BL/L.
RESUMO
La pancreatitis recurrente ocurre en el 15-35% en la edad pediátrica. Se define como 2 o más episodios distintos de pancreatitis aguda con normalización de enzimas pancreáticas entre cada episodio. Una de sus causas es la pancreatitis autoinmune. En los últimos 10 años se controlaron, en el Hospital Garrahan, 10 pacientes con diagnóstico de pancreatitis recurrente, de los cuales solo uno tuvo diagnóstico de pancreatitis autoinmune. Se describe el caso clínico de una paciente, que, inicialmente, tenía estudios normales de función y anatomía pancreática y, en la evolución, luego de un episodio de pancreatitis aguda, desarrolló estenosis del conducto de Wirsung sugestiva de pancreatitis autoinmune. Se considera importante describir esta patología infrecuente en pediatría, pero que se encuentra en auge.
Introduction. Recurrent pancreatitis occurs in children between 15 and 35% of the cases. It is defined as two or more separate episodes of acute pancreatitis with normalization of the pancreatic enzymes between episodes. One of the causes is autoimmune pancreatitis. Over the last 10 years, 10 patients with recurrent pancreatitis were sent at our center. Only one was considered to have autoimmune pancreatitis. We described a clinical case about a patient, who had, at the beginning, normal functional and anatomical studies, and then was finally diagnosed with autoimmune disease based on findings on the magnetic resonance cholangiopancreatography with a duct of Wirsung abnormality. We considered important to describe this uncommon disorder in childhood, in spite of having an increasing incidence.
Assuntos
Humanos , Feminino , Criança , Pancreatite Autoimune/diagnóstico , Doenças Autoimunes , Prednisona/administração & dosagem , Corticosteroides/uso terapêutico , Pancreatite Autoimune/terapiaRESUMO
INTRODUCTION: Recurrent pancreatitis occurs in children between 15 and 35 % of the cases. It is defined as two or more separate episodes of acute pancreatitis with normalization of the pancreatic enzymes between episodes. One of the causes is autoimmune pancreatitis. Over the last 10 years, 10 patients with recurrent pancreatitis were sent at our center. Only one was considered to have autoimmune pancreatitis. We described a clinical case about a patient, who had, at the beginning, normal functional and anatomical studies, and then was finally diagnosed with autoimmune disease based on findings on the magnetic resonance cholangiopancreatography with a duct of Wirsung abnormality. We considered important to describe this uncommon disorder in childhood, in spite of having an increasing incidence.
La pancreatitis recurrente ocurre en el 15-35 % en la edad pediátrica. Se define como 2 o más episodios distintos de pancreatitis aguda con normalización de enzimas pancreáticas entre cada episodio. Una de sus causas es la pancreatitis autoinmune. En los últimos 10 años se controlaron, en el Hospital Garrahan, 10 pacientes con diagnóstico de pancreatitis recurrente, de los cuales solo uno tuvo diagnóstico de pancreatitis autoinmune. Se describe el caso clínico de una paciente, que, inicialmente, tenía estudios normales de función y anatomía pancreática y, en la evolución, luego de un episodio de pancreatitis aguda, desarrolló estenosis del conducto de Wirsung sugestiva de pancreatitis autoinmune. Se considera importante describir esta patología infrecuente en pediatría, pero que se encuentra en auge.
Assuntos
Doenças Autoimunes , Pancreatite Autoimune , Pancreatite , Doença Aguda , Doenças Autoimunes/diagnóstico , Criança , Colangiopancreatografia por Ressonância Magnética , Humanos , Pancreatite/diagnósticoRESUMO
BACKGROUND: Burkitt lymphoma (BL) is an aggressive hematologic cancer. This study synthetized the evidence about the efficacy and safety of chemotherapy treatments used in patients with BL using the World Health Organization classification. MATERIALS AND METHODS: A systematic review of interventional studies was performed. A search was carried out in PubMed, Scopus, and Web of Science, with additional manual and gray literature searches. The methodological quality of articles was assessed with the Newcastle-Ottawa scale. RESULTS: We identified 1358 studies; 9 nonrandomized studies satisfied the eligibility criteria (n = 544 patients). The BL epidemiologic variants were sporadic BL (44.5%), endemic BL (47.2%), and immunodeficiency-associated BL (8.3%). Regarding chemotherapy protocols, 4 groups were identified: based on CODOX-M/IVAC (n = 4), EPOCH (n = 1), BFM (n = 1), and simplified treatment schemes used in African countries (n = 3). Most studies had moderate quality. Empirically and qualitatively, the best options for adults with sporadic BL were 'DA-EPOCH-R' (7-year overall survival [OS], 100%; 95% confidence interval [CI], 82-100), 'HDR + LD into CODOX-M/IVAC' (2-year OS, 84%), and 'RD-CODOX-M/IVAC' (4-year progression-free survival, 92%; 95% CI, 77-100); in pediatric patients, the 'BFM-NHL-90-like' showed promising results (3-year OS, 90%). For immunodeficiency-associated BL, the 'SC-EPOCH-RR' demonstrated a good therapeutic profile (6-year OS, 90%; 95% CI, 60-98). The 'Malawi 2012-2014' (1-year OS, 73%; 95% CI, 61-85) could be the treatment choice in endemic BL (African countries). The main adverse events were hematologic. CONCLUSION: Selecting chemotherapy protocols for BL should be grounded in its epidemiologic variants. Further studies with greater methodological quality are needed to strengthen the evidence.
Assuntos
Antineoplásicos/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Linfoma de Burkitt/tratamento farmacológico , Adolescente , Adulto , Linfoma de Burkitt/mortalidade , Criança , Feminino , Humanos , Masculino , Análise de Sobrevida , Resultado do Tratamento , Adulto JovemRESUMO
La enfermedad de Hirschsprung ocurre en 1 de cada 5000 nacimientos. La falla de migración de las células ganglionares desde la cresta neural en dirección cefalocaudal genera su ausencia en parte o todo el colon. Se manifiesta con falta de eliminación de meconio, distensión abdominal y dificultades en la evacuación. Luego del tratamiento quirúrgico, existen complicaciones a corto y largo plazo. El objetivo de esta publicación es describir las principales causas de síntomas persistentes en los pacientes operados por enfermedad de Hirschsprung y presentar un algoritmo diagnóstico-terapéutico factible de ser realizado en nuestro medio
Hirschsprung disease is characterized by the lack of migration of intrinsic parasympathetic ganglia from neural crest and consequently absence of them at varying length of the bowel, resulting in functional obstruction. The incidence is 1 per 5000 births. After surgery, short term and long term comorbidity commonly occurs. The aim of this article is to revise the main causes of ongoing symptoms after surgery in Hirschsprung disease patients and to show a diagnostic and therapeutic algorithm that can be developed in our community
Assuntos
Humanos , Doença de Hirschsprung/cirurgia , Doença de Hirschsprung/diagnóstico , Doença de Hirschsprung/terapia , Pediatria , Doença Crônica , Constipação Intestinal/dietoterapia , Constipação Intestinal/etiologia , Enterocolite/dietoterapia , Enterocolite/etiologia , Incontinência Fecal/dietoterapia , Incontinência Fecal/etiologiaRESUMO
Hirschsprung disease is characterized by the lack of migration of intrinsic parasympathetic ganglia from neural crest and consequently absence of them at varying length of the bowel, resulting in functional obstruction. The incidence is 1 per 5000 births. After surgery, short term and long term comorbidity commonly occurs. The aim of this article is to revise the main causes of ongoing symptoms after surgery in Hirschsprung disease patients and to show a diagnostic and therapeutic algorithm that can be developed in our community.
La enfermedad de Hirschsprung ocurre en 1 de cada 5000 nacimientos. La falla de migración de las células ganglionares desde la cresta neural en dirección cefalocaudal genera su ausencia en parte o todo el colon. Se manifiesta con falta de eliminación de meconio, distensión abdominal y dificultades en la evacuación. Luego del tratamiento quirúrgico, existen complicaciones a corto y largo plazo. El objetivo de esta publicación es describir las principales causas de síntomas persistentes en los pacientes operados por enfermedad de Hirschsprung y presentar un algoritmo diagnóstico-terapéutico factible de ser realizado en nuestro medio.
Assuntos
Doença de Hirschsprung/cirurgia , Obstrução Intestinal/etiologia , Complicações Pós-Operatórias/diagnóstico , Algoritmos , Doença de Hirschsprung/fisiopatologia , Humanos , Recém-Nascido , Complicações Pós-Operatórias/terapiaRESUMO
BACKGROUND: Suboptimal meta-analyses with misleading conclusions are frequently published in the health areas, and they can compromise decision making in clinical practice. AIM OF THE REVIEW: This systematic review aimed to map the characteristics of published meta-analyses of pharmacy services and their association with the study conclusions. METHOD: We searched electronic databases (PubMed, Scopus, and Web of Science) to identify published meta-analyses of pharmacy services up to January 2019. Components of meta-analyses were extracted (i.e. studies' metadata; methods used in the systematic review; description of the statistical model used for the meta-analysis; main results; conflict of interest and funding source). The methodological quality was evaluated using the R-AMSTAR tool. RESULTS: A total of 85 meta-analyses were included, with 2016 as the median publication year. Overall, the methodological quality of meta-analyses of pharmacy services was considered suboptimal. Only one-third of authors registered a protocol; complete search strategy and raw data were provided by 55.3% and 9.4% of studies, respectively. Evidence strength (GRADE) was evaluated in only 19.2% of studies. PRISMA and Cochrane recommendations were stated to be followed in 60% and 27.4% of articles, respectively. Around half of studies performed sensitivity analysis, however, the prediction interval was presented by only one meta-analysis. Studies that favoured the pharmacists' interventions poorly discussed the methodological quality and heterogeneity of primary trials. CONCLUSION: Poor conduction and reporting were observed in meta-analyses of pharmacy services, especially in those that favoured the pharmacist's interventions. Reproducibility and transparency should be rigorously ensured by journal editors and peer-reviewers.
Assuntos
Metanálise como Assunto , Assistência Farmacêutica/organização & administração , Farmacêuticos/organização & administração , Humanos , Modelos Estatísticos , Projetos de Pesquisa/normasRESUMO
The jackhammer esophagus is a rare hypercontractile disorder and diagnosis is based on high-resolution manometry. Peroral endoscopic myotomy (POEM) of the spastic esophagus segments has been described. We report a pediatric patient with jackhammer esophagus that was treated endoscopically
No disponible
Assuntos
Humanos , Feminino , Adolescente , Transtornos da Motilidade Esofágica/terapia , Esofagoscopia/métodos , Transtornos de Deglutição/terapia , Manometria/métodos , Toxinas Botulínicas/uso terapêutico , Resultado do TratamentoRESUMO
The jackhammer esophagus is a rare hypercontractile disorder and diagnosis is based on high-resolution manometry. Peroral endoscopic myotomy (POEM) of the spastic esophagus segments has been described. We report a pediatric patient with jackhammer esophagus that was treated endoscopically.
Assuntos
Endoscopia Gastrointestinal/métodos , Transtornos da Motilidade Esofágica/cirurgia , Miotomia/métodos , Adolescente , Toxinas Botulínicas Tipo A/administração & dosagem , Toxinas Botulínicas Tipo A/uso terapêutico , Transtornos da Motilidade Esofágica/tratamento farmacológico , Transtornos da Motilidade Esofágica/fisiopatologia , Esôfago/fisiopatologia , Feminino , Humanos , Injeções , Manometria , Fármacos Neuromusculares/administração & dosagem , Fármacos Neuromusculares/uso terapêuticoRESUMO
La esofagitis eosinofílica es una enfermedad crónica del esófago, inmunomediada, caracterizada por síntomas de disfunción esofágica y eosinofilia tisular. Endoscópicamente, la mucosa esofágica puede ser normal o tener exudados, anillos, edema, surcos y estenosis. El tratamiento se basa en dieta de exclusión, corticoterapia tópica y/o dilatación esofágica. La atresia es la alteración congénita más frecuente del esófago, requiere corrección quirúrgica con posibles complicaciones, como reflujo gastroesofágico, estenosis y dismotilidad esofágica. Hasta el año 2015, fueron comunicados 48 casos de esofagitis eosinofílica en atresia esofágica, en los que tuvo participación la dismotilidad, el reflujo y la supresión ácida prolongada. Clínicamente, predominan la disfagia, las dificultades en la alimentación y los síntomas de reflujo, por tanto, se sugiere la endoscopía digestiva alta con biopsias para descartar esofagitis eosinofílica asociada en pacientes con atresia esofágica y síntomas persistentes antes de realizar dilatación esofágica y/o cirugía antirreflujo. Si se confirma esofagitis eosinofílica, debe tratarse con medicación apropiada y subsiguientes conductas terapéuticas dependerán de su evolución.
Eosinophilic esophagitis is an immune-mediated chronic disease of the esophagus characterized by symptoms related to esophageal dysfunction and tissue eosinophilia. In the endoscopy, the esophageal mucosa may appear normal or show exudates, rings, edema, furrows, and strictures. Its management is based on elimination diet, topical corticosteroids and/or esophageal dilation. Atresia is the most common congenital alteration of the esophagus; it requires surgical repair and poses potential complications, such as gastroesophageal reflux, strictures, and esophageal dysmotility. Up to 2015, 48 cases of eosinophilic esophagitis and esophageal atresia were reported, with dysmotility, reflux, and long-term acid suppression involvement. Prevalent clinical signs include dysphagia, difficulty eating, and reflux symptoms, so an esophagogastroduodenoscopy with biopsy is recommended to rule out associated eosinophilic esophagitis in patients with esophageal atresia and persistent symptoms before performing an esophageal dilation and/or anti-reflux surgery. If eosinophilic esophagitis is confirmed, it should be managed with the corresponding drugs, and the subsequent therapeutic approach will depend on its clinical course.
Assuntos
Humanos , Lactente , Pré-Escolar , Criança , Transtornos de Deglutição , Atresia Esofágica , Esofagite EosinofílicaRESUMO
Eosinophilic esophagitis is an immune-mediated chronic disease of the esophagus characterized by symptoms related to esophageal dysfunction and tissue eosinophilia. In the endoscopy, the esophageal mucosa may appear normal or show exudates, rings, edema, furrows, and strictures. Its management is based on elimination diet, topical corticosteroids and/or esophageal dilation. Atresia is the most common congenital alteration of the esophagus; it requires surgical repair and poses potential complications, such as gastroesophageal reflux, strictures, and esophageal dysmotility. Up to 2015, 48 cases of eosinophilic esophagitis and esophageal atresia were reported, with dysmotility, reflux, and long-term acid suppression involvement. Prevalent clinical signs include dysphagia, difficulty eating, and reflux symptoms, so an esophagogastroduodenoscopy with biopsy is recommended to rule out associated eosinophilic esophagitis in patients with esophageal atresia and persistent symptoms before performing an esophageal dilation and/or anti-reflux surgery. If eosinophilic esophagitis is confirmed, it should be managed with the corresponding drugs, and the subsequent therapeutic approach will depend on its clinical course.
La esofagitis eosinofílica es una enfermedad crónica del esófago, inmunomediada, caracterizada por síntomas de disfunción esofágica y eosinofilia tisular. Endoscópicamente, la mucosa esofágica puede ser normal o tener exudados, anillos, edema, surcos y estenosis. El tratamiento se basa en dieta de exclusión, corticoterapia tópica y/o dilatación esofágica. La atresia es la alteración congénita más frecuente del esófago, requiere corrección quirúrgica con posibles complicaciones, como reflujo gastroesofágico, estenosis y dismotilidad esofágica. Hasta el año 2015, fueron comunicados 48 casos de esofagitis eosinofílica en atresia esofágica, en los que tuvo participación la dismotilidad, el reflujo y la supresión ácida prolongada. Clínicamente, predominan la disfagia, las dificultades en la alimentación y los síntomas de reflujo, por tanto, se sugiere la endoscopía digestiva alta con biopsias para descartar esofagitis eosinofílica asociada en pacientes con atresia esofágica y síntomas persistentes antes de realizar dilatación esofágica y/o cirugía antirreflujo. Si se confirma esofagitis eosinofílica, debe tratarse con medicación apropiada y subsiguientes conductas terapéuticas dependerán de su evolución.
Assuntos
Esofagite Eosinofílica/complicações , Atresia Esofágica/complicações , Algoritmos , Esofagite Eosinofílica/diagnóstico , Esofagite Eosinofílica/terapia , Atresia Esofágica/diagnóstico , Atresia Esofágica/terapia , HumanosAssuntos
Hepatite Autoimune/diagnóstico , Hepatite Autoimune/tratamento farmacológico , Poliendocrinopatias Autoimunes/tratamento farmacológico , Poliendocrinopatias Autoimunes/imunologia , Azatioprina/uso terapêutico , Pré-Escolar , Seguimentos , Doenças Genéticas Ligadas ao Cromossomo X/complicações , Doenças Genéticas Ligadas ao Cromossomo X/tratamento farmacológico , Doenças Genéticas Ligadas ao Cromossomo X/imunologia , Hepatite Autoimune/complicações , Humanos , Masculino , Poliendocrinopatias Autoimunes/complicações , Prednisona/uso terapêutico , Síndrome , Resultado do TratamentoRESUMO
Congenital chloride diarrhea (CCD) is a rare hereditary disease, with a prenatal onset, secondary to a deficit in the intestinal chloride transport. In the present study, we describe the clinical characteristics of three patients with congenital watery diarrhea, two of them females, aged between 9 and 14 months at the first visit. All patients presented perinatal antecedents of polyhydramnios and prematurity, watery stools since birth and growth failure. Metabolic alkalosis, hypokalemia and hypochloremia were found. Stool ionogram with elevated doses of chloride, exceeding both sodium and potassium, confirmed the diagnosis of CCD. Substitute treatment with sodium and potassium chloride was started with good results. CCD should be considered as a differential diagnosis to congenital watery diarrhea, since early diagnosis and appropriate treatment are mandatory for the normal development of the child, avoiding severe complications such as neurological sequelae and even death.
Assuntos
Cloretos/metabolismo , Diarreia Infantil/congênito , Diarreia Infantil/diagnóstico , Diarreia Infantil/tratamento farmacológico , Fezes/química , Feminino , Humanos , Lactente , Masculino , Cloreto de Potássio/administração & dosagem , Cloreto de Sódio/administração & dosagemRESUMO
Congenital chloride diarrhea (CCD) is a rare hereditary disease, with a prenatal onset, secondary to a deficit in the intestinal chloride transport. In the present study, we describe the clinical characteristics of three patients with congenital watery diarrhea, two of them females, aged between 9 and 14 months at the first visit. All patients presented perinatal antecedents of polyhydramnios and prematurity, watery stools since birth and growth failure. Metabolic alkalosis, hypokalemia and hypochloremia were found. Stool ionogram with elevated doses of chloride, exceeding both sodium and potassium, confirmed the diagnosis of CCD. Substitute treatment with sodium and potassium chloride was started with good results. CCD should be considered as a differential diagnosis to congenital watery diarrhea, since early diagnosis and appropriate treatment are mandatory for the normal development of the child, avoiding severe complications such as neurological sequelae and even death.