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He reported a history of type 2 diabetes mellitus and high blood pressure&#44; both of which were well controlled&#46; He complained of myalgias in distal extremities from an early age and intolerance to physical exercise&#46; During clinical follow-up&#44; CPK levels remained high and we ruled out pharmacological and toxic aetiologies&#44; among others&#46; We decided&#44; in conjunction with Neurology&#44; to request an electromyogram&#44; which was unremarkable&#44; but the muscle biopsy revealed the presence of subsarcolemmal and intermyofibrillar vacuoles with positive PAS &#40;periodic acid Schiff&#41; material corresponding to glycogen storage&#44; and did not reveal activity of the enzyme myophosphorylase&#44; which confirmed the diagnosis of a myopathy&#44; glycogen storage disease type V&#46; The genetic study was positive for mutation PYGM T2392C in homozygosis&#46; McArdle&#8217;s disease was the definitive diagnosis&#46;</p><p class="elsevierStylePara">McArdle&#8217;s disease is an uncommon but underdiagnosed condition and its prevalence is 1&#47;167&#44;000&#46;<span class="elsevierStyleSup">1</span> Symptoms appear from an early age &#40;childhood or adolescence&#41;&#44; although they vary according to the patient and include myalgia&#44; muscle cramp&#44; intolerance to exercise and muscle exhaustion when the slightest effort is exerted&#46;<span class="elsevierStyleSup">1&#44;2</span> Occasionally&#44; more than one family member has the same symptoms&#44; which is cause for clinical suspicion&#44; but a muscle biopsy and genetic study are necessary for confirmation&#46; Renal involvement is uncommon&#44;<span class="elsevierStyleSup">2&#44;3</span> although there have been reports of chronic renal failure due to tubulointerstitial nephropathy secondary to repeated episodes of rhabdomyolysis&#46;<span class="elsevierStyleSup">4</span> Some authors describe the involvement of predisposing factors&#44; such as previous alcohol consumption and statin use&#46;<span class="elsevierStyleSup">2</span> Patients progress with fluctuating levels of CPK in blood&#44; associated with muscle damage and regeneration&#46; Severe rhabdomyolysis is uncommon&#44; but it causes kidney damage due to the massive release of myoglobin&#44; resulting in intratubular obstruction&#44; acute tubular necrosis or functional impairment due to the decreased effective circulating volume caused by the retention of sodium and water in damaged myocytes&#46;<span class="elsevierStyleSup">2</span> The presence of residual activity of muscle phosphorylase is related to mild clinical symptoms&#44; while in the absence of this enzyme&#8217;s activity&#44; infections and a history of vigorous physical exercise can trigger more severe rhabdomyolysis&#44;<span class="elsevierStyleSup">2&#44;3</span> as was the case in our patient&#46;</p><p class="elsevierStylePara">General treatment focusses on improving the quality of life of these patients&#44; adapting their daily activity through training&#44; physiotherapy and glucose intake just before exercise&#44; achieving a biological adaptation to McArdle&#8217;s disease&#46;<span class="elsevierStyleSup">5</span> Some authors recommend the administration of vitamin B6 and B12 supplements&#44; although their use has not been linked to a clear improvement of symptoms or a decreased risk of rhabdomyolysis&#46; The indication of renal replacement therapy meets the same criteria as other ARF entities that present with massive rhabdomyolysis&#46;</p><p class="elsevierStylePara">To conclude&#44; we should suspect metabolic myopathy in young patients who have persistently high levels of CPK associated with muscle symptoms at an early age&#46; Its early diagnosis and recommendations based on a change of lifestyle in patients will avoid serious and systemic consequences&#44; including rhabdomyolysis-induced ARF&#46;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Conflicts of interest</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">The authors declare that they have no conflicts of interest related to the contents of this article&#46;</p><p class="elsevierStylePara"><a href="grande&#47;11885&#95;16025&#95;49190&#95;en&#95;f111885&#46;jpg" class="elsevierStyleCrossRefs"><img src="11885_16025_49190_en_f111885.jpg" alt="Progression of creatine phosphokinase and creatinine in plasma"></img></a></p><p class="elsevierStylePara">Figure 1&#46; Progression of creatine phosphokinase and creatinine in plasma</p>"
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From acute renal failure to the diagnosis of McArdle's disease
Desde un fracaso renal agudo al diagnóstico de la enfermedad de McArdle
Oussamah Fikri-Benbrahima, Fátima Cazalla-Cadenasa, Alfonso Vadillo-Bemejob
a Sección de Nefrología, Complejo Hospitalario La Mancha-Centro, Alcázar de San Juan, Ciudad Real,
b Servicio de Neurología, Complejo Hospitalario La Mancha-Centro, Alcázar de San Juan, Ciudad Real,
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    "textoCompleto" => "<p class="elsevierStylePara"><span class="elsevierStyleBold">To the Editor&#58;</span></p><p class="elsevierStylePara">McArdle&#8217;s disease or glycogen storage disease type V is a hereditary autosomal recessive metabolic myopathy caused by the total or partial deficiency of an enzyme located in the skeletal muscles&#44; myophosphorylase&#46; Muscle involvement is a consistent feature&#44; with renal involvement being less common&#46;</p><p class="elsevierStylePara">We report the case of a 42-year-old male with previous acute renal failure &#40;ARF&#41; &#40;creatinine 4&#46;8mg&#47;dl&#41; secondary to severe rhabdomyolysis &#40;creatine phosphokinase &#91;CPK&#93; 500&#44;000IU&#47;l&#41; of unclear aetiology&#46; At discharge&#44; the patient had recovered renal function &#40;creatinine 0&#46;8mg&#47;dl&#44; glomerular filtration rate 93ml&#47;min&#47;1&#46;73m<span class="elsevierStyleSup">2</span>&#41; with a decrease in CPK levels to 420IU&#47;l &#40;Figure 1&#41;&#46; He reported a history of type 2 diabetes mellitus and high blood pressure&#44; both of which were well controlled&#46; He complained of myalgias in distal extremities from an early age and intolerance to physical exercise&#46; During clinical follow-up&#44; CPK levels remained high and we ruled out pharmacological and toxic aetiologies&#44; among others&#46; We decided&#44; in conjunction with Neurology&#44; to request an electromyogram&#44; which was unremarkable&#44; but the muscle biopsy revealed the presence of subsarcolemmal and intermyofibrillar vacuoles with positive PAS &#40;periodic acid Schiff&#41; material corresponding to glycogen storage&#44; and did not reveal activity of the enzyme myophosphorylase&#44; which confirmed the diagnosis of a myopathy&#44; glycogen storage disease type V&#46; The genetic study was positive for mutation PYGM T2392C in homozygosis&#46; McArdle&#8217;s disease was the definitive diagnosis&#46;</p><p class="elsevierStylePara">McArdle&#8217;s disease is an uncommon but underdiagnosed condition and its prevalence is 1&#47;167&#44;000&#46;<span class="elsevierStyleSup">1</span> Symptoms appear from an early age &#40;childhood or adolescence&#41;&#44; although they vary according to the patient and include myalgia&#44; muscle cramp&#44; intolerance to exercise and muscle exhaustion when the slightest effort is exerted&#46;<span class="elsevierStyleSup">1&#44;2</span> Occasionally&#44; more than one family member has the same symptoms&#44; which is cause for clinical suspicion&#44; but a muscle biopsy and genetic study are necessary for confirmation&#46; Renal involvement is uncommon&#44;<span class="elsevierStyleSup">2&#44;3</span> although there have been reports of chronic renal failure due to tubulointerstitial nephropathy secondary to repeated episodes of rhabdomyolysis&#46;<span class="elsevierStyleSup">4</span> Some authors describe the involvement of predisposing factors&#44; such as previous alcohol consumption and statin use&#46;<span class="elsevierStyleSup">2</span> Patients progress with fluctuating levels of CPK in blood&#44; associated with muscle damage and regeneration&#46; Severe rhabdomyolysis is uncommon&#44; but it causes kidney damage due to the massive release of myoglobin&#44; resulting in intratubular obstruction&#44; acute tubular necrosis or functional impairment due to the decreased effective circulating volume caused by the retention of sodium and water in damaged myocytes&#46;<span class="elsevierStyleSup">2</span> The presence of residual activity of muscle phosphorylase is related to mild clinical symptoms&#44; while in the absence of this enzyme&#8217;s activity&#44; infections and a history of vigorous physical exercise can trigger more severe rhabdomyolysis&#44;<span class="elsevierStyleSup">2&#44;3</span> as was the case in our patient&#46;</p><p class="elsevierStylePara">General treatment focusses on improving the quality of life of these patients&#44; adapting their daily activity through training&#44; physiotherapy and glucose intake just before exercise&#44; achieving a biological adaptation to McArdle&#8217;s disease&#46;<span class="elsevierStyleSup">5</span> Some authors recommend the administration of vitamin B6 and B12 supplements&#44; although their use has not been linked to a clear improvement of symptoms or a decreased risk of rhabdomyolysis&#46; The indication of renal replacement therapy meets the same criteria as other ARF entities that present with massive rhabdomyolysis&#46;</p><p class="elsevierStylePara">To conclude&#44; we should suspect metabolic myopathy in young patients who have persistently high levels of CPK associated with muscle symptoms at an early age&#46; Its early diagnosis and recommendations based on a change of lifestyle in patients will avoid serious and systemic consequences&#44; including rhabdomyolysis-induced ARF&#46;</p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara"><span class="elsevierStyleBold">Conflicts of interest</span></p><p class="elsevierStylePara">&#160;</p><p class="elsevierStylePara">The authors declare that they have no conflicts of interest related to the contents of this article&#46;</p><p class="elsevierStylePara"><a href="grande&#47;11885&#95;16025&#95;49190&#95;en&#95;f111885&#46;jpg" class="elsevierStyleCrossRefs"><img src="11885_16025_49190_en_f111885.jpg" alt="Progression of creatine phosphokinase and creatinine in plasma"></img></a></p><p class="elsevierStylePara">Figure 1&#46; Progression of creatine phosphokinase and creatinine in plasma</p>"
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ISSN: 20132514
Original language: English
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