Rabdomiólisis en un paciente con enfermedad de McArdle / Rhabdomyolysis in a patient with McArdle's disease

INTRODUCCIÓN: 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. VALORACIÓN: 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. DIAGNÓSTICO: 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. PLANIFICACIÓN: 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. DISCUSIÓN: 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

INTRODUCTION: 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. CASE EVALUATION: 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 hours, as well as his subsequent admission to the ward. A nursing evaluation was performed following the care model of Virginia Henderson. DIAGNOSIS: 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. PLANNING: 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. DISCUSSION: 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 and rest, they made a rapid recovery

When the usual symptoms become an unusual diagnosis: a case report of trifunctional protein complex.

Disorders of mitochondrial fatty acid b-oxidation should be considered in any infant who presents with unexplained hypoglycemia and/or myopathy. Although disorders of trifunctional protein (TFP) complex including long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) and mitochondrial TFP deficiencies are extremely rare, the combined incidence of mitochondrial fatty acid disorders is quite frequent. With the expansion of newborn screening, what were once considered uncommon disorders are being identified with increasing frequency in asymptomatic infants. The following case scenario presents an infant who developed symptoms prior to the completion of newborn screening. This fairly routine course for a late-preterm infant reveals an extremely rare inborn error of metabolism, LCHAD deficiency. An overview of TFP complex, the differential diagnoses as the case unfolds, diagnostic test results, acute care management, and short-term patient follow-up is presented. With experience, health care providers often become accustomed to and expect to see common things regularly. This case presents a scenario which, as it unfolds, appears to be quite common. It turns out, however, to be very uncommon.

Wound wise: wounds in surgical patients who are obese.

The number of surgical patients who are obese in the United States is rising, a trend that's likely to continue. Such patients are at higher risk than nonobese patients are for surgical site infections and other complications such as dehiscence, pressure ulcers, deep tissue injury, and rhabdomyolysis. This article details the factors that can contribute to such complications, including a high number of comorbidities, and offers practical suggestions for preventing them. Nurses should understand that special equipment, precautions, and protocols may be needed at every stage of care, and that obese patients aren't anomalies but rather a part of a growing population with particular needs.

[The nursing experience of a drug abuse patient complicated with rhabdomyolysis].

A lot of complications are caused by inappropriate use of drugs and one potentially fatal complication is rhabdomyolysis. This is a case study of the care of a patient with rhabdomyolysis induced by glue sniffing, during the period between August 7 and August 18, 2003. Roy's nursing assessment was applied as an index to evaluate the patient. By way of clinical observation, interview, and compilation of medical records, the nursing problems were established as ineffective breathing pattern, fluid volume deficit, and risks of violence and addiction. After a series of conversations, active attention, and professional nursing in emergency situations, the patient learned to control his behavior and accepted treatment. We hope that this complete nursing experience can in future serve as a reference in the management of patients with rhabdomyolysis.

When the roof caves in.

Rescuing patients after structural collapse can be alien to emergency nurses but their ability to adapt should stand them well to provide good patient care in these unusual circumstances. Generally, they are held back until patients are released from the collapsed structures or specific requests for analgesia, anaesthesia or aggressive fluid resuscitation are made.

Rhabdomyolysis and acute renal failure in intensive care.

The aetiology and pathophysiology of the complex clinical condition rhabdomyolysis are outlined here Rhabdomyolysis can be caused by a number of factors including excessive muscle activity, direct muscle injury, ischaemia and excesses of temperature Specific nursing care strategies, focusing on the pathophysiology of the condition, are proposed The priorities of care should centre on maintaining patient safety with monitoring of cardiovascular and respiratory systems and assessment of renal function

Rhabdomyolysis and myoglobinuric renal failure.

Rhabdomyolysis, a clinical syndrome resulting from the release of skeletal muscle cell contents into the plasma, is causally connected to up to 25 percent of all cases of acute renal failure. Critical care nurses need to be aware of precipitating factors and proper interventions in order to assure optimal function in this patient population.