RESUMO
Introducción: El aumento de la expectativa de vida de pacientes con drepanocitosis, provoca que se sumen comorbilidades y disfunción crónica de órganos a las manifestaciones clínicas de la enfermedad. Objetivos: Analizar las alteraciones renales, neurológicas y sensoriales que aparecen en pacientes con drepanocitosis como manifestaciones de la disfunción orgánica crónica. Métodos: Se realizó una revisión de artículos publicados en los últimos 10 años con el uso de los buscadores PubMed, SciELO y Google Académico. Los términos de búsqueda fueron: drepanocitosis, disfunción orgánica, mortalidad, proteinuria, enfermedad renal crónica, infarto cerebral silente, trastornos neurocognitivos, retinopatía, sordera neurosensorial. Análisis y síntesis de la información: El efecto combinado de afectación glomerular, tubular e intersticial acarrea una disminución paulatina de la función renal. La progresión a la enfermedad renal crónica terminal es común y se asocia a incremento de la mortalidad. Las complicaciones del sistema nervioso central también pueden tener un impacto negativo en la supervivencia o provocar secuelas que influyen en la calidad de vida de los enfermos. Las afectaciones sensoriales tienen repercusiones biopsicosociales. Se describen aspectos relacionados con la prevalencia, diagnóstico y tratamiento de estas complicaciones. Conclusiones: Un seguimiento de los pacientes basado en estrategias para prevenir y diagnosticar de forma precoz las manifestaciones de disfunción crónica de órganos, puede disminuir las consecuencias desfavorables de estas complicaciones(AU)
Introduction: The increase in life expectancy of patients with sickle cell disease causes co-morbidities and chronic organ dysfunction to be added to the clinical manifestations of the disease. Objectives: To analyze the renal, neurological and sensory alterations that appear in patients with sickle cell disease as manifestations of chronic organic dysfunction. Methods: A review of the articles published in the last ten years was carried out using the search engines PubMed, SciELO and Google Scholar. The search terms were: sickle cell disease, organ dysfunction, mortality, proteinuria, chronic kidney disease, silent cerebral infarction, neurocognitive disorders, retinopathy, sensorineural deafness Analysis and synthesis of information: The combined effect of glomerular, tubular and interstitial involvement leads to a gradual decline in kidney function. Progression to end-stage chronic kidney disease is common and is associated with increased mortality. Central nervous system complications can also have a negative impact on survival or cause sequelae that influence the quality of life of patients. Sensory impairments have biopsychosocial repercussions. Aspects related to the prevalence, diagnosis and treatment of these complications are described. Conclusions: A follow-up of patients based on strategies to prevent and diagnose early the manifestations of chronic organ dysfunction can reduce the unfavorable consequences of these complications(AU)
Assuntos
HumanosRESUMO
OBJECTIVES: To describe the academic concerns and risk strata of children with sickle cell disease (SCD) as identified through a parent-directed screening tool and to compare the rates of these concerns with actual school service utilization in the clinic population. STUDY DESIGN: We completed a retrospective review of patients with SCD referred to the school intervention program during the 2017-2018 and 2018-2019 school years because of a school-related concern raised by parents or noted by the clinical team. All parents completed the Brief School Needs Inventory (BSNI), a validated parent-response tool used to stratify academic risk. Rates of special education services, grade retention, and results from neuropsychologic testing were captured. Clinical history, the use of disease-modifying therapy, and results from laboratory and neuroimaging studies were also obtained. Descriptive statistics were performed to examine demographic information, clinical history, and BSNI results. RESULTS: In total, 137 unique patients (age range, 14 months to 19 years) completed the BSNI during the study period, for 181 events. According to BSNI risk-stratification, 45% of patients were deemed low, 36% moderate, and 19% high academic risk. Over one-half of parents were concerned about their ability to advocate for their child's needs. Despite legal qualification for a Section 504 accommodation plan, only 20% had established plans. Academic concerns were common with 31% of children reporting an individualized education program and 20% with grade retention/remediation. CONCLUSIONS: Concerns for academic challenges remain high among parents of children with SCD; however, school service utilization remains disproportionately low attributable to numerous reasons.