A Rare Cause of Acute Kidney Injury: G6PD Deficiency and Rhabdomyolysis

Abstract

G6PD deficiency, an X-linked genetic disorder, typically induces hemolytic episodes under oxidative stress from factors like infections or certain foods. Our report involves a 31-year-old Syrian male who developed acute kidney injury due to severe rhabdomyolysis, intravascular hemolysis, and severe methemoglobinemia three days after his first consumption of fava beans. Diagnosed with G6PD deficiency, he needed hemodialysis for a while due to severe anuric acute kidney injury. Genetic testing and decreased enzymatic activity confirmed a hemizygous c.563 C>T p.ser188phe mutation associated with the Mediterranean variant of G6PD deficiency. This case underscores the rare but significant risk of complications that have rhabdomyolysis and acute kidney injury in G6PD deficiency, especially following fava bean consumption. Our findings highlight the importance of early recognition and comprehensive management of these severe complications in populations predisposed to G6PD deficiency. This case adds to the limited literature on the triad associated with G6PD deficiency, which includes severe methemoglobinemia, rhabdomyolysis, and acute hemolytic crisis caused by favism.