Hemocromatosis no ligada al gen HFE: a propósito de un caso / Non-HFE hemochromatosis: a case report

RESUMEN La hemocromatosis hereditaria (HH) consiste en una sobrecarga progresiva de hierro que conlleva a un acúmulo anormal del mismo en diferentes órganos blancos; y, que, en caso de no tratarse a tiempo, puede causar una disfunción multi-orgánica. Se han descrito diversas mutaciones genéticas asociadas a la HH, la más frecuente de ellas es la asociada al gen-HFE, la cual se encuentra en el 90% de los casos. En la actualidad la flebotomía terapéutica continúa siendo el tratamiento de elección para el manejo de esta patología. Reportamos el caso de un paciente en seguimiento por fibrosis hepática severa, con persistencia de un perfil ferrocinético elevado, a quien cinco años después se le diagnostica una HH no asociada a una mutación en el gen-HFE; recibió manejo con flebotomías periódicas, presentando rápidamente una mejoría significativa de su cuadro clínico y de los niveles de ferritina al igual que otros paraclínicos.

ABSTRACT Hereditary hemochromatosis (HH) consists of a progressive iron overload that leads to an abnormal accumulation of iron in different target organs; and, if not treated in time, can cause multi-organ dysfunction. Various genetic mutations associated with HH have been described, the most frequent is associated with the HFE-gene, which is found in 90% of cases. At present, therapeutic phlebotomy continues to be the treatment of choice for the management of this pathology. We report the case of a patient under follow-up for severe liver fibrosis, with persistence of a high ferrokinetic profile, who five years later was diagnosed with HH not associated to a mutation in the HFE-gene; He was managed with periodic phlebotomies, rapidly presenting a significant clinical improvement and decrease of ferritin levels.

Sobrecarga de fluidos em pacientes com choque séptico e depuração de lactato como alvo terapêutico: um estudo de coorte retrospectiva / Fluid overload in patients with septic shock and lactate clearance as a therapeutic goal: a retrospective cohort study

RESUMO Objetivo: Avaliar se a sobrecarga de fluidos na terapia hídrica é fator prognóstico para pacientes com choque séptico quando ajustada para os alvos de depuração de lactato. Métodos: Este estudo envolveu uma coorte retrospectiva e foi conduzido em um hospital de cuidados nível IV localizado em Bogotá, na Colômbia. Foi organizada uma coorte de pacientes com choque séptico, e suas características e balanço hídrico foram documentados. Os pacientes foram estratificados por níveis de exposição segundo a magnitude da sobrecarga de fluidos por peso corporal após 24 horas de terapia. A mortalidade foi determinada aos 30 dias, e foi desenvolvido um modelo de regressão logística incondicional com ajuste para fatores de confusão. A significância estatística foi estabelecida com nível de p ≤ 0,05. Resultados: Foram 213 pacientes com choque séptico e, após o tratamento, 60,8% deles tiveram depuração de lactato acima de 50%. Dentre os pacientes 97 (46%) desenvolveram sobrecarga de fluidos ≥ 5%, e apenas 30 (13%) desenvolveram sobrecarga ≥ 10%. Pacientes com sobrecarga de fluidos ≥ 5% receberam, em média, 6.227mL de soluções cristaloides (DP ± 5.838mL) em 24 horas, enquanto os não expostos receberam 3.978mL (DP ± 3.728mL), com p = 0.000. Os pacientes que desenvolveram sobrecarga de fluidos foram mais frequentemente tratados com ventilação mecânica (70,7% versus 50,8%; p = 0,003), albumina (74,7% versus 55,2%; p = 0,003) e corticosteroides (53,5% versus 35,0%; p = 0,006) do que os que não desenvolveram sobrecarga de fluidos. Em análise multivariada, o balanço acumulado de fluidos não se associou com mortalidade (RC 1,03; IC95% 0,89 - 1,20). Conclusão: Após ajuste para severidade da condição e depuração adequada de lactato, a ocorrência de balanço hídrico positivo não se associou com aumento da mortalidade nessa coorte latino-americana de pacientes sépticos.

ABSTRACT Objective: To assess whether fluid overload in fluid therapy is a prognostic factor for patients with septic shock when adjusted for lactate clearance goals. Methods: This was a retrospective cohort study conducted at a level IV care hospital in Bogotá, Colombia. A cohort of patients with septic shock was assembled. Their characteristics and fluid balance were documented. The patients were stratified by exposure levels according to the magnitude of fluid overload by body weight after 24 hours of therapy. Mortality was determined at 30 days, and an unconditional logistic regression model was created, adjusting for confounders. The statistical significance was established at p ≤ 0.05. Results: There were 213 patients with septic shock, and 60.8% had a lactate clearance ≥ 50% after treatment. Ninety-seven (46%) patients developed fluid overload ≥ 5%, and only 30 (13%) developed overload ≥ 10%. Patients exhibiting fluid overload ≥ 5% received an average of 6227mL of crystalloids (SD ± 5838mL) in 24 hours, compared to 3978mL (SD ± 3728mL) among unexposed patients (p = 0.000). The patients who developed fluid overload were treated with mechanical ventilation (70.7% versus 50.8%) (p = 0.003), albumin (74.7% versus 55.2%) (p = 0.003) and corticosteroids (53.5% versus 35.0%) (p = 0.006) more frequently than those who did not develop fluid overload. In the multivariable analysis, cumulative fluid balance was not associated with mortality (OR 1.03; 95%CI 0.89 - 1.20). Conclusions: Adjusting for the severity of the condition and adequate lactate clearance, cumulative fluid balance was not associated with increased mortality in this Latin American cohort of septic patients.

Depresión de aparición tardía y su relación con la demencia vascular en el anciano / Late-life depression and its relationship to vascular dementia in the elderly

Introducción: la demencia vascular es un síndrome de naturaleza crónica y progresiva, caracterizado por una perturbación de diversas funciones mentales superiores, la cual conlleva a un deterioro global en las esferas comportamental, social, emocional y biológica del individuo. Objetivo: describir los aspectos más actualizados y relevantes en demencia, específicamente la demencia vascular, su asociación con depresión de aparición tardía, mecanismos fisiopatológicos, el impacto en la funcionalidad del anciano y los puntos más destacados en el tamizaje y diagnóstico de ambas entidades. Metodología: se realizó una revisión sistemática de la literatura sobre demencia vascular y su asociación con la depresión de aparición tardía en las bases de datos PubMed, ScienceDirect y Ovid durante los meses de mayo a agosto de 2013. Resultados: se encontraron 62 artículos con información actualizada. Destaca la clara asociación entre ambas patologías, con una prevalencia global de trastornos depresivos de 27,41%, de los cuales 44,41% corresponden a sujetos con demencia de tipo vascular, 32,48% a otros tipos de demencia no especificada y 18,53% a Enfermedad de Alzheimer. Conclusión: la demencia vascular es una entidad que ha incrementado la morbilidad de la población geriátrica, por lo cual se hace cada vez más necesaria la aplicación sistemática de métodos de tamizaje reproducibles, económicos y confiables, con el objetivo de favorecer el diagnóstico y la detección precoz. En nuestro concepto dichos métodos de tamizaje deberían incluir dentro de sus criterios diagnósticos a los trastornos depresivos, dada la relación de su aparición en etapas tardías de la vida con el posterior desarrollo de deterioro cognitivo y demencia de tipo vascular. (MÉD.UIS. 2014;27(2):51-58).

Background: Vascular dementia is a syndrome of chronic progressive nature, characterized by a disturbance of various higher mental functions, which leads to an overall deterioration in the behavioral, social, emotional and biological areas of the individual. Objective: explain and describe the most current and relevant issues in dementia, vascular type specifically, and its association with late-onset depression, pathophysiological mechanisms, the impact they represent on the functionality of the elderly patient and the most prominent points in the screening and diagnosis of both entities. Methods: A systematic review of the literature on vascular dementia and its association with late-onset depression in PubMed and ScienceDirect data was performed. Results: 64 updated articles with information about the subject to develop were found. Highlights the clear association between the two conditions described, with an overall prevalence of depressive disorders of 27.41%, of which 44.41% were subjects with vascular dementia, 32.48% correspond to other types of non-specified dementia and 18.53% to Alzheimer s disease. Conclusion: Vascular dementia is an entity that has increased morbidity in the geriatric population, because of this, the systematic application of reproducible, economical and reliable screening methods becomes more necessary, with the aim of favoring early diagnosis and detection, in our opinion such screening methods should include depressive disorders as part of their diagnostic criteria, due to the relationship between its aparittion in the later stages of life and the subsequent development of cognitive impairment and vascular dementia. (MÉD.UIS. 2014;27(2):51-58).