A 10-year-old boy with dark urine and acute kidney injury: answer

Abstract

Keywords Rhabdomyolysis.Acute kidney injury.Carnitine palmitoyltransferase II deficiencyAbbreviationsAKI acute kidney injuryacyl-CoAs acylcoenzyme A derivativesCPT II carnitine palmitoyltransferase II deficiencyFAO fatty acid β-oxidationAnswers1. Severe rhabdomyolysis related to a mild form ofcarnitine palmitoyltransferase II (CPT II) deficiency.Diagnosis was suspected clinically by the occurrence ofsevere and recurrent rhabdomyolysis and based on theacylcarnitine profile. The diagnosis was confirmed bythe measurement of CPT II enzyme activity andsubsequent molecular analysis.2. First, the patient had a genetic disorder of lipidmetabolism, namely, a mild form of CPT II deficiency,which was responsible for the severe rhabdomyolysis,which in turn can be triggered by fever, exercise, andcold. Furthermore, viral myositis is a common cause ofrhabdomyolysis in children [1], and rapid testing forInfluenza A was positive in our patient. Influenzainfection-related severe rhabdomyolysis has alreadybeen reported [2]. Life-threatening rhabdomyolysismay be a consequence of any Influenza infection inpatients with CPT II deficiency [3].3. The primary cause of acute kidney injury (AKI) inthis patient is the rhabdomyolysis. Rhabdomylolysismay not be the only cause of AKI. Indeed, ourpatient also presented with diarrhea and occasionalvomiting and was probably dehydrated. Finally, acumulative dose of 60 mg/kg body weight ofibuprofen was given as self-medication 1 day priorto admission. All of these elements may havecontributed to a deterioration of the renal functiondue to hypoperfusion and/or vasoconstriction.4. The management regimen includes the treatment ofrhabdomyolysis-induced AKI and the prevention offurther rhabdomyolysis episodes.Supportive treatment of rhabdomyolysis consists of theearly and aggressive repletion of fluids. Alkalinization of