Wave of renal impairment.

BMJ Case Rep

Department of Nephrology, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.

Published: February 2018

We present a case of a 51-year-old man who went to the emergency department after an almost-drowning episode, presenting with muscular weakness, myalgia and dark urine. Laboratory data showed a severe rhabdomyolysis (creatine kinase 497 510 U/L). Despite aggressive fluid therapy, an oliguric acute kidney injury was established with temporary need of haemodialysis. The patient had a longtime history of exercise intolerance and family history of a metabolic myopathy, namely a sister with McArdle's disease. The genetic test was positive. McArdle's disease is an autosomal recessive disorder caused by mutations in the muscle glycogen phosphorylase gene that encodes the myophosphorylase. The main symptom consists in exercise intolerance and the most severe complication is rhabdomyolysis with acute renal failure. Metabolic myopathies, such as McArdle's disease, should be considered in patients with acute renal failure due to unexplained severe rhabdomyolysis, especially if there are chronic complaints of exercise intolerance and positive family history.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5812420PMC
http://dx.doi.org/10.1136/bcr-2017-223437DOI Listing

Publication Analysis

Top Keywords

exercise intolerance
12
mcardle's disease
12
severe rhabdomyolysis
8
family history
8
acute renal
8
renal failure
8
wave renal
4
renal impairment
4
impairment case
4
case 51-year-old
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!