Importance about use of high-throughput sequencing in pediatric: case report of a patient with Fanconi-Bickel syndrome.

BACKGROUND: Fanconi-Bickel syndrome is characterized by hepatorenal disease caused by anomalous glycogen storage. It occurs due to variants in the SLC2A2 gene. We present a male patient of 2 years 7 months old, with failure to thrive, hepatomegaly, metabolic acidosis, hypophosphatemia, hypokalemia, hyperlactatemia. RESULTS: Exome sequencing identified the homozygous pathogenic variant NM_000340.2(SLC2A2):c.1093 C > T (p.Arg365Ter), related with Fanconi-Bickel syndrome. He received treatment with bicarbonate, amlodipine, sodium citrate and citric acid solution, enalapril, alendronate and zolendronate, and nutritional management with uncooked cornstarch, resulting in an improvement of one standard deviation in weight and height. CONCLUSIONS: The importance of knowing the etiology in rare genetic disease is essential, not only to determine individual and familial recurrence risk, but also to establish the treatment and prognosis; in this sense, access to a new genomic technology in low- and middle-income countries is essential to shorten the diagnostic odyssey.

Comorbilidades asociadas a la mortalidad por COVID-19 en adultos en Lima, Perú: un estudio de cohorte retrospectiva / Comorbidities associated with COVID-19 mortality in adults in Lima, Peru: a retrospective cohort study

RESUMEN Objetivos. Evaluar las comorbilidades asociadas a la mortalidad en pacientes adultos hospitalizados por COVID-19 de diferentes grupos de edad en hospitales de Lima y Callao. Materiales y métodos. En este estudio de cohorte retrospectiva analizamos datos de pacientes adultos hospitalizados por COVID-19, notificados al Sistema Nacional de Vigilancia Epidemiológica del Ministerio de Salud de Perú de marzo a octubre del 2020. Se estimaron riesgos relativos con intervalos de confianza al 95% mediante modelos de regresión de Poisson con varianza robusta para evaluar las comorbilidades asociadas a la mortalidad por grupos de edad: jóvenes (18-29 años), adultos (30-59 años) y mayores (≥60 años). Resultados. Se incluyeron 2366 jóvenes, 23781 adultos y 25356 adultos mayores en el análisis. Los adultos mayores presentaron la mortalidad más alta (63,7%) en comparación con adultos (27,1%) y jóvenes (8,5%). Independientemente del grupo de edad, la presencia de enfermedad neurológica, enfermedad renal, enfermedad hepática y cáncer se asoció a un mayor riesgo de mortalidad. Adicionalmente, la enfermedad cardiovascular fue también un factor de riesgo en los jóvenes; la obesidad, la diabetes, la enfermedad cardiovascular, la enfermedad pulmonar crónica y la inmunodeficiencia en los adultos; y la obesidad y la enfermedad pulmonar crónica en los mayores. Conclusiones: Independientemente de los grupos de edad, los individuos con enfermedad neurológica crónica, enfermedad renal, enfermedad hepática y cáncer tendrían un alto riesgo de morir por la COVID-19.

ABSTRACT Objectives. To evaluate comorbidities associated with mortality in adult patients hospitalized due to COVID-19 in hospitals in Lima and Callao. Materials and methods. In this retrospective cohort study, we analyzed data from adult patients hospitalized due to COVID-19 reported to the National Epidemiological Surveillance System of the Peruvian Ministry of Health from March to October 2020. We estimated relative risks with 95% confidence intervals using Poisson regression models with robust variance to assess comorbidities associated with mortality by age group: young adults (18-29 years), adults (30-59 years) and older adults (≥60 years). Results. We included 2366 young adults, 23,781 adults and 25,356 older adults. Older adults had the highest mortality (63.7%) compared to adults (27.1%) and young adults (8.5%). Regardless of age group, the presence of neurological disease, renal disease, liver disease, and cancer was associated with an increased risk of mortality. Additionally, cardiovascular disease was also a risk factor in young adults; obesity, diabetes, cardiovascular disease, chronic lung disease, and immunodeficiency in adults; and obesity and chronic lung disease in the elderly. Conclusions. Regardless of age groups, individuals with chronic neurologic disease, renal disease, liver disease, and cancer were at high risk of death from COVID-19.

Comorbidities associated with COVID-19 mortality in adults in Lima, Peru: a retrospective cohort study. / Comorbilidades asociadas a la mortalidad por COVID-19 en adultos en Lima, Perú: un estudio de cohorte retrospectiva.

OBJECTIVES.: Motivation for the study. During the COVID-19 pandemic, the mortality rate from this disease was higher in adults and the elderly. Therefore, it is important to identify the factors that were associated with mortality from COVID-19 in adults, by age group. Main findings. Chronic neurological disease, kidney disease, liver disease, and cancer increased the risk of dying from COVID-19 in the three age groups we analyzed, which were made up of hospitalized patients from Lima and Callao. The risk of mortality associated with comorbidities was higher in patients aged 18 to 29. Implications. This study helps to identify the groups of patients with the highest risk of death from COVID-19, according to age group and type of comorbidity. . To evaluate comorbidities associated with mortality in adult patients hospitalized due to COVID-19 in hospitals in Lima and Callao. MATERIALS AND METHODS.: In this retrospective cohort study, we analyzed data from adult patients hospitalized due to COVID-19 reported to the National Epidemiological Surveillance System of the Peruvian Ministry of Health from March to October 2020. We estimated relative risks with 95% confidence intervals using Poisson regression models with robust variance to assess comorbidities associated with mortality by age group: young adults (18-29 years), adults (30-59 years) and older adults (≥60 years). RESULTS.: We included 2366 young adults, 23,781 adults and 25,356 older adults. Older adults had the highest mortality (63.7%) compared to adults (27.1%) and young adults (8.5%). Regardless of age group, the presence of neurological disease, renal disease, liver disease, and cancer was associated with an increased risk of mortality. Additionally, cardiovascular disease was also a risk factor in young adults; obesity, diabetes, cardiovascular disease, chronic lung disease, and immunodeficiency in adults; and obesity and chronic lung disease in the elderly. CONCLUSIONS.: Regardless of age groups, individuals with chronic neurologic disease, renal disease, liver disease, and cancer were at high risk of death from COVID-19.

OBJETIVOS.: Motivation for the study. During the COVID-19 pandemic, the mortality rate from this disease was higher in adults and the elderly. Therefore, it is important to identify the factors that were associated with mortality from COVID-19 in adults, by age group. Main findings. Chronic neurological disease, kidney disease, liver disease, and cancer increased the risk of dying from COVID-19 in the three age groups we analyzed, which were made up of hospitalized patients from Lima and Callao. The risk of mortality associated with comorbidities was higher in patients aged 18 to 29. Implications. This study helps to identify the groups of patients with the highest risk of death from COVID-19, according to age group and type of comorbidity. . Evaluar las comorbilidades asociadas a la mortalidad en pacientes adultos hospitalizados por COVID-19 de diferentes grupos de edad en hospitales de Lima y Callao. MATERIALES Y MÉTODOS.: En este estudio de cohorte retrospectiva analizamos datos de pacientes adultos hospitalizados por COVID-19, notificados al Sistema Nacional de Vigilancia Epidemiológica del Ministerio de Salud de Perú de marzo a octubre del 2020. Se estimaron riesgos relativos con intervalos de confianza al 95% mediante modelos de regresión de Poisson con varianza robusta para evaluar las comorbilidades asociadas a la mortalidad por grupos de edad: jóvenes (18-29 años), adultos (30-59 años) y mayores (≥60 años). RESULTADOS.: Se incluyeron 2366 jóvenes, 23781 adultos y 25356 adultos mayores en el análisis. Los adultos mayores presentaron la mortalidad más alta (63,7%) en comparación con adultos (27,1%) y jóvenes (8,5%). Independientemente del grupo de edad, la presencia de enfermedad neurológica, enfermedad renal, enfermedad hepática y cáncer se asoció a un mayor riesgo de mortalidad. Adicionalmente, la enfermedad cardiovascular fue también un factor de riesgo en los jóvenes; la obesidad, la diabetes, la enfermedad cardiovascular, la enfermedad pulmonar crónica y la inmunodeficiencia en los adultos; y la obesidad y la enfermedad pulmonar crónica en los mayores. CONCLUSIONES: Independientemente de los grupos de edad, los individuos con enfermedad neurológica crónica, enfermedad renal, enfermedad hepática y cáncer tendrían un alto riesgo de morir por la COVID-19.