Fiebre de origen no filiado y rabdomiólisis en una inmigrante procedente de África / Fever of unknown origin and rhabdomyolysis in an immigrant from Africa

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Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.

BACKGROUND: Rhabdomyolysis is a clinical emergency that may cause acute kidney injury (AKI). It can be acquired or due to monogenic mutations. Around 60 different rare monogenic forms of rhabdomyolysis have been reported to date. In the clinical setting, identifying the underlying molecular diagnosis is challenging due to nonspecific presentation, the high number of causative genes, and current lack of data on the prevalence of monogenic forms. METHODS: We employed whole exome sequencing (WES) to reveal the percentage of rhabdomyolysis cases explained by single-gene (monogenic) mutations in one of 58 candidate genes. We investigated a cohort of 21 unrelated families with rhabdomyolysis, in whom no underlying etiology had been previously established. RESULTS: Using WES, we identified causative mutations in candidate genes in nine of the 21 families (43%). We detected disease-causing mutations in eight of 58 candidate genes, grouped into the following categories: (1) disorders of fatty acid metabolism (CPT2), (2) disorders of glycogen metabolism (PFKM and PGAM2), (3) disorders of abnormal skeletal muscle relaxation and contraction (CACNA1S, MYH3, RYR1 and SCN4A), and (4) disorders of purine metabolism (AHCY). CONCLUSIONS: Our findings demonstrate a very high detection rate for monogenic etiologies using WES and reveal broad genetic heterogeneity for rhabdomyolysis. These results highlight the importance of molecular genetic diagnostics for establishing an etiologic diagnosis. Because these patients are at risk for recurrent episodes of rhabdomyolysis and subsequent risk for AKI, WES allows adequate prophylaxis and treatment for these patients and their family members and enables a personalized medicine approach.

Serious statin-associated myotoxicity and rhabdomyolysis in Aboriginal and Torres Strait Islanders: a case series.

BACKGROUND: Statins are associated with skeletal muscle adverse effects. These are generally considered mild and reversible, with more severe toxicity occurring rarely. There is little known regarding statin myotoxicity in Aboriginal and Torres Strait Islander Australians who are at high cardiovascular risk and likely to receive statins. AIMS: To describe features of serious statin-associated myotoxicity (SSAM) occurring in Indigenous Australians and increase awareness of this condition. METHODS: Observational case series of SSAM in Aboriginal or Torres Strait Islanders. Cases were identified from personal clinical experience, referrals, reports to the Therapeutic Goods Administration, medical literature, an Internet search and reports from a histopathology laboratory. Information was collected onto a standardised data collection form. RESULTS: Fifteen cases of serious myotoxicity in Aboriginal or Torres Strait Islanders exposed to statins were identified from 2006 to 2012. The mean age was 55 (range 35-69). Painless weakness was the most common presentation. Interacting drugs were involved in seven cases. Biopsies were done in eight cases, three showed inflammatory polymyositis and five necrotising myositis. Three patients died and two had permanent severe disability. Resolution of symptoms after statin cessation was variable. CONCLUSIONS: SSAM has occurred in the Indigenous Australian population with some fatalities. Awareness of the potential for SSAM is essential for early recognition and effective management to reduce probability of avoidable catastrophic harm. Safe, as well as effective use of medication, is essential for optimum health outcomes. Effective pharmacovigilance and therapeutic risk management are important for Aboriginal and Torres Strait Islander Australians.

Rhabdomyolysis in the US Active Duty Army, 2004-2006.

PURPOSE: Rhabdomyolysis (RM) is a skeletal muscle disorder resulting in severe cellular injury caused by vigorous physical activity and other systemic etiologies. RM is associated with significant morbidity, such as acute renal failure, and can be fatal. RM that occurs in the US Active Duty Army (ADA) results in time lost from training, deployment, and combat. We sought to systemically describe the epidemiology of ADA clinical RM by quantifying RM in terms of absolute numbers, examine rate trends, and identify soldiers at elevated risk. METHODS: We used data from the Total Army Injury and Health Outcomes Database to calculate yearly RM rates in the overall ADA, as well as adjusted RM rates within soldier subpopulations for 2003-2006. RESULTS: During this period, the absolute numbers of clinically diagnosed ADA RM ranged between 382 and 419 cases per year. Annual rates were 7-8 per 10,000, which is 300%-400% higher than the estimated US civilian population (2 per 10,000). In soldiers with a history of a prior heat injury, RM rates climbed to 52-86 per 10,000, a 7- to 11-fold increase. Increased RM rates were seen in soldiers who are male, African American, younger, less educated, and with a shorter length of service. Approximately 8% of yearly ADA RM cases resulted in acute renal failure, an estimate lower than that for the US civilian population. CONCLUSIONS: Our findings suggest that rates of RM are higher in the ADA than in the US civilian population. Rates remained fairly stable; however, relative to other ADA soldiers, those with prior heat injury, who are African American, or who have a length of service of less than 90 d are at the highest risk for RM development.

Rabdomiólise após exercício físico não intenso / Rhabdomyolysis after non-intense physical exercise

Discutiremos um raro caso clínico de rabdomiólise ocorrido após um exercício físico habitual e não intenso, em paciente masculino de 34 anos e os prováveis fatores desencadeantes envolvidos, bem como suas implicações clínicas. Destacando-se a elevação expressiva e não vista em outros trabalhos como da creatinoquinase, enzimas hepáticas, e as medidas clínicas adotadas para a prevenção de complicações renais sérias e com risco grave para o paciente em análise.

A rare clinical case of rhabdomyolysis occurred after habitual and non-intense physical exercise, in a male, 34 year-old patient, as well as the probable triggered factors involved and their clinical implications will be discussed. Moreover, the expressive increase, which is pioneering compared to other research such as on creatine kinase, hepatic enzymes, as well as clinical measures adopted for serum renal complications and with severe risk to the patient under study will be highlighted.