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2018 ; 7
(1
): 62-65
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Exertional rhabdomyolysis leading to acute kidney injury: when genetic defects
are diagnosed in adult life
#MMPMID29234986
Cucchiari D
; Colombo I
; Amato O
; Podestà MA
; Reggiani F
; Valentino R
; Faravelli I
; Testolin S
; Moggio M
; Badalamenti S
CEN Case Rep
2018[May]; 7
(1
): 62-65
PMID29234986
show ga
Rhabdomyolysis is a common cause of acute kidney injury (AKI) that is usually
triggered by trauma. However, less common causes of rhabdomyolysis may
precipitate AKI as well, possibly representing a diagnostic challenge even for
the experienced nephrologist. Genetic defects of muscle metabolism represent one
of these causes and can be overlooked in adults, since these diseases usually
become apparent in childhood. We present here a case in which an adult patient
with severe exertional rhabdomyolysis leading to AKI was finally diagnosed with a
genetic defect of lipid metabolism. A 41-year-old patient was brought to our
attention because of AKI and pigmenturia after strenuous physical effort. At
admission, the patient was over-hydrated with a weight increase of 3 kg in few
days. Laboratory examination showed creatinine of 8.7 mg/dl, along with increased
myoglobin and CPK. Urinalysis was positive for haemoglobin and proteins, while
urinary sediment analysis did not demonstrate any red blood cell but rather
"muddy-brown" casts and tubular cells. Urine output was forced and the patient
completely recovered renal function. Genetic analysis later demonstrated the
presence of a common mutation of Carnitine Palmitoyl-Transferase II (CPTII). When
facing rhabdomyolysis of obscure origin, nephrologists must keep in mind the
possibility that even adult patients may have a genetic defect of energy
metabolism. In these cases, patients usually experience rhabdomyolysis during
exertion, fasting, or infection. CPTII deficiency often has a subtle presentation
and might be unrecognized until AKI develops. Therefore, it is important to
consider a genetic defect of muscle metabolism even in adult patients when a
history of rhabdomyolysis of unclear origin is present.
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