Regina Yu, DO
Pediatric Critical Care Fellow
Harbor UCLA Medical Center
Torrance, California
Disclosure information not submitted.
Tiffany Pedigo, MD
Clinical Instructor, Department of Pediatrics, Division of Pediatric Critical Care Medicine
Harbor-UCLA Medical Center
Torrance, California, United States
Disclosure information not submitted.
Darci Evans, DO
Assistant Professor, Department of Pediatrics, Division of Pediatric Critical Care Medicine
Harbor UCLA Medical Center
Torrance, California, United States
Disclosure information not submitted.
Title: Diagnosis of G6PD deficiency in a patient with severe rhabdomyolysis and SARS-CoV-2 infection
Introduction: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common enzyme defects worldwide. In rare cases, it may predispose to life-threatening rhabdomyolysis. While COVID-19 has been primarily regarded as a respiratory disease, an association with rhabdomyolysis have been increasingly observed.
Description: A 19-year-old African American male with a history of asthma and obstructive sleep apnea presented with a two-day history of myalgias, decreased appetite, and diaphoresis followed by one day of scant, dark urine. Exam was notable for diaphoresis and tachycardia. Initial laboratory results showed evidence of severe rhabdomyolysis (creatine kinase 346,695 U/L) and acute kidney injury. SARS-CoV-2 by polymerase chain reaction was positive. Renal ultrasound and chest radiographs were normal. After admission to the pediatric intensive care unit, the patient progressed to oliguric renal failure requiring continuous renal replacement therapy. A dose of rasburicase was given for hyperuricemia. He subsequently developed hypoxemic respiratory failure and was intubated. Computerized tomography chest showed bilateral ground glass opacities, but no pulmonary embolism. He continued to be hypoxemic, and arterial blood gas analysis revealed PaO2 of 279mmHg, discordant with pulse oximetry reading of 82%. Co-oximetry showed a methemoglobin level of 11.1%. G6PD enzyme activity and subsequent genetic testing were consistent with G6PD deficiency. Ascorbic acid was trialed for methemoglobemia without effect. He then underwent single volume exchange transfusion and showed rapid improvement in oxygen saturations and closure of the oxygen saturation gap. The patient had gradual improvement in renal function and was discharged home without further need for dialysis after twenty one days.
Discussion: To our knowledge, this is the first report of severe rhabdomyolysis and renal failure in the setting of G6PD deficiency and COVID-19 disease. This case demonstrates that G6PD deficiency may have uncommon presentations such as rhabdomyolysis and methemoglobinemia when faced with infection and oxidative stress. Clinicians should have a low threshold for screening for G6PD deficiency in patients with COVID-19 in order to provide effective treatment and avoid complications.