Enfermedad de Pompe: historia, epidemiología, fisiopatología y manifestaciones clínicas / Pompe's disease: History, epidemiology, pathophysiology and clinical manifestations

Introducción: La enfermedad de Pompe o glucogenosis tipo II pertenece al grupo de las miopatías metabólicas y es producida por la deficiencia parcial o total de la enzima alfa glucosidasa ácida. La ausencia/ déficit de esta enzima genera un almacenamiento de glucógeno en el interior de los lisosomas en diversos tejidos, incluidos el músculo esquelético, el miocardio y las células del músculo liso. Se trata de una enfermedad multisistémica que puede tener un inicio temprano o tardío de los síntomas. Contenidos: En este artículo se describirán los aspectos históricos de la enfermedad, su fisiopatología y sus manifestaciones clínicas, con el énfasis puesto en su inicio temprano o tardío. Conclusiones: Es necesario reconocer la enfermedad de Pompe debido a que esta patología es susceptible de tratamiento.

Introduction: Pompe's disease or glucogenosis type II belongs to the group of metabolic myopathies and is caused by a partial or total deficiency of the acid alpha glucosidase enzyme. The lack/deficiency of this enzyme generates glycogen storage inside the lysosomes in various tissues including skeletal muscle, myocardium and smooth muscle cells. It is a multisystemic disease that can have an early onset or a late onset. Contents: In this article, the historical aspects, the pathophysiology and the clinical manifestations of the disease, will be described. Conclusions: It is necessary to recognize Pompe disease because this pathology is treatable.

Tratamiento de la enfermedad de Pompe / Treatment of Pompe Disease

Introducción: La enfermedad de Pompe es un trastorno de origen genético causado por la deficiencia de la enzima alfa-glucosidasa ácida, que se caracteriza por el acumulo anormal de glucógeno en los músculos y otros tejidos, generando una debilidad muscular progresiva, la cual debe ser diagnosticada y tratada de forma oportuna, ya que de esto dependerá el pronóstico, la sobrevida y la funcionalidad de los pacientes con esta condición. Contenidos: El abordaje multidisciplinario incluye tanto una adecuada valoración y soporte nutricional como el inicio del tratamiento modificador de enfermedad a través de la terapia de reemplazo enzimático, que a su vez dependerá de la forma de presentación, la variante genética, el perfil inicial del paciente, las condiciones especiales que puedan existir y las metas propias para cada paciente. Para garantizar un manejo adecuado, se deben realizar estudios de seguimiento con parámetros objetivos, evaluar posibles eventos secundarios e instaurar su manejo en caso de presentarlos. Conclusiones: El pronóstico de esta enfermedad dependerá del inicio oportuno del tratamiento, la implementación de pautas nutricionales adecuadas y el establecimiento del seguimiento de los parámetros clínicos y paraclínicos para cada uno de los pacientes.

Introduction: Pompe disease is a disorder of genetic origin caused by the deficiency of the acid alpha-glucosidase enzyme, which is characterized by the abnormal accumulation of glycogen in the muscles and other tissues, generating progressive muscle weakness, which must be diagnosed and treated in a timely manner, since the prognosis, survival, and functionality of patients with this condition will depend on this. Contents: The multidisciplinary approach includes both an adequate evaluation and nutritional support as well as the initiation of disease-modifying treatment through enzyme replacement therapy, which in turn will depend on the form of presentation, the genetic variant, the initial profile of the patient, the special conditions that may exist and the specific goals for each patient. To guarantee adequate management, follow-up studies must be carried out with objective parameters, evaluate possible secondary events and establish their management in case of presenting them. Conclusions: The prognosis of this disease will depend on the timely initiation of treatment, the implementation of adequate nutritional guidelines and the establishment of monitoring of clinical and paraclinical parameters for each of the patients.

Clinical and Epidemiologic Analysis of COVID-19 Children Cases in Colombia PEDIACOVID.

OBJECTIVE: The COVID pandemic has affected Colombia with a high number of cases and deceases; however, no studies have been published regarding pediatric population. An epidemiologic analysis of the nationwide COVID register, therefore, is necessary to outline and describe the impact in such population. METHODS: A retrospective analysis was made of the characteristics of a cohort of 5062 patients <18 years of age, until June 16, 2020, reported at the National Institute of Health-INS (https://www.ins.gov.co/News./Pages/Coronavirus.aspx), through the national public access database, with all subjects confirmed with COVID-19 or severe acute respiratory syndrome-CoV-2. RESULTS: Reviewed on June 16, 2020, a total of 54,971 confirmed cases were reported nationwide for COVID-19, of which 5062 (9.2%) are cases in patients under 18 years of age. There was a statistically significant difference between groups; age was statistically significantly higher in the asymptomatic, compared with: deceased, severe and moderate cases; moreover, age was statistically significantly higher in the mild, compared with: deceased, severe and moderate. Statistically significant difference determined with one-way ANOVA was found between groups (F = 16.08, P < 0.001). Post hoc analysis reveals significant differences between groups, the age of patients at home (9.39 years) and those recovered (9.3 years) being significantly higher than those in intensive care unit (4.9 years), in hospital (6.1 years), or than the deceased (2.9 years). CONCLUSION: The results of this study show that, at the nationwide level, patients in more severe states (deceased, severe and moderate), are significantly younger than those in the milder state (asymptomatic and mild).