Rhabdomyolysis in a patient with McArdle's disease Nafría-Soria, H.; Moreno-España, J.; Sánchez-Herrero, H. ...
Enfermería Intensiva (English ed.),
January-March 2021, 2021 Jan-Mar, 2021-01-00, Letnik:
32, Številka:
1
Journal Article
McArdle´s disease or glycogenosis type V is a rare disease due to deficiency of muscle myophosphorylase leading to inability to degrade glycogen at this level. Patients have fatigue, pain, and cramps ...on a regular basis. In addition, after intense exercise or stressful situation, they are exposed to cellular lysis. This can occur in the form of rhabdomyolysis and myoglobinuria, a potentially serious clinical syndrome if not treated quickly.
We present the care plan of a 38-year-old man with McArdle´s disease and secondary rhabdomyolysis on physical exercise, which required attention in the Emergency Department for 24 h, as well as his subsequent admission to the ward. A nursing evaluation was performed following the care model of Virginia Henderson.
Priority was given to nurse diagnoses: (00016) deterioration of urinary elimination, (00092) activity intolerance, (00093) fatigue and (00132) acute pain; and potential complication: risk of acute renal failure.
The Care Plan is developed following the NANDA-NIC-NOC methodology, with special attention to alterations in the elimination and musculoskeletal system. The diuresis is monitored. Fluid replenishment is performed, and analgesic medication is given.
There is little literature on the nursing care of patients with McArdle’s disease, which has limited the comparison of our results with those of other authors. However, given the good response of the subject through fluid replacement, optimal pain control, rest, they made a rapid recovery.
la enfermedad de McArdle o glucogenosis tipo V es una enfermedad rara debida al déficit de miofosforilasa muscular lo que produce incapacidad para degradar el glucógeno a este nivel. Los pacientes presentan fatiga, dolor y calambres de forma habitual. Además, tras un ejercicio intenso o situación estresante, están expuestos a lisis celular. Esto se puede manifestar en forma de mioglobinuria y rabdomiólisis, síndrome clínico potencialmente grave si no se trata con rapidez.
Se presenta el caso de un varón de 38 años con enfermedad de McArdle y rabdomiólisis secundaria a la realización de ejercicio, que precisó atención en el Servicio de Urgencias durante 24 horas, así como su posterior ingreso en Unidad de Hospitalización. Se realizó una valoración enfermera siguiendo el modelo de cuidados de Virginia Henderson.
Se priorizaron los diagnósticos enfermeros: (00016) deterioro de la eliminación urinaria, (00092) intolerancia a la actividad, (00093) fatiga y (00132) dolor agudo; y la complicación potencial: riesgo de fallo renal agudo.
Se elabora Plan de Cuidados siguiendo la metodología NANDA-NIC-NOC, con especial atención a las alteraciones en la eliminación y en el sistema musculoesquelético. Se realiza monitorización de la diuresis. Se realiza reposición de líquidos y se administra medicación analgésica.
Existe escasa literatura sobre los cuidados enfermeros de pacientes con enfermedad de McArdle lo que ha limitado la comparación de nuestros resultados con los de otros autores sin embargo dada la buena respuesta del sujeto mediante reposición de líquidos, un óptimo control del dolor y el reposo demostraron una rápida recuperación del paciente.
INTRODUCTIONMcArdle's disease or glycogenosis type V is a rare disease due to deficiency of muscle myophosphorylase leading to inability to degrade glycogen at this level. Patients have fatigue, ...pain, and cramps on a regular basis. In addition, after intense exercise or stressful situation, they are exposed to cellular lysis. This can occur in the form of rhabdomyolysis and myoglobinuria, a potentially serious clinical syndrome if not treated quickly. CASE EVALUATIONWe present the care plan of a 38-year-old man with McArdle's disease and secondary rhabdomyolysis on physical exercise, which required attention in the Emergency Department for 24 hours, as well as his subsequent admission to the ward. A nursing evaluation was performed following the care model of Virginia Henderson. DIAGNOSISPriority was given to nurse diagnoses: (00016) deterioration of urinary elimination, (00092) activity intolerance, (00093) fatigue and (00132) acute pain; and potential complication: risk of acute renal failure. PLANNINGThe Care Plan is developed following the NANDA-NIC-NOC methodology, with special attention to alterations in the elimination and musculoskeletal system. The diuresis is monitored. Fluid replenishment is performed, and analgesic medication is given. DISCUSSIONThere is little literature on the nursing care of patients with McArdle's disease, which has limited the comparison of our results with those of other authors. However, given the good response of the subject through fluid replacement, optimal pain control and rest, they made a rapid recovery.
Here we describe the results of a genome-wide study conducted in 11 939 COVID-19 positive cases with an extensive clinical information that were recruited from 34 hospitals across Spain (SCOURGE ...consortium). In sex-disaggregated genome-wide association studies for COVID-19 hospitalization, genome-wide significance (p < 5x10-8) was crossed for variants in 3p21.31 and 21q22.11 loci only among males (p = 1.3x10-22 and p = 8.1x10-12, respectively), and for variants in 9q21.32 near TLE1 only among females (p = 4.4x10-8). In a second phase, results were combined with an independent Spanish cohort (1598 COVID-19 cases and 1068 population controls), revealing in the overall analysis two novel risk loci in 9p13.3 and 19q13.12, with fine-mapping prioritized variants functionally associated with AQP3 (p = 2.7x10-8) and ARHGAP33 (p = 1.3x10-8), respectively. The meta-analysis of both phases with four European studies stratified by sex from the Host Genetics Initiative confirmed the association of the 3p21.31 and 21q22.11 loci predominantly in males and replicated a recently reported variant in 11p13 (ELF5, p = 4.1x10-8). Six of the COVID-19 HGI discovered loci were replicated and an HGI-based genetic risk score predicted the severity strata in SCOURGE. We also found more SNP-heritability and larger heritability differences by age (<60 or ≥ 60 years) among males than among females. Parallel genome-wide screening of inbreeding depression in SCOURGE also showed an effect of homozygosity in COVID-19 hospitalization and severity and this effect was stronger among older males. In summary, new candidate genes for COVID-19 severity and evidence supporting genetic disparities among sexes are provided.
