Glucose-6-Phosphate Dehydrogenase Deficiency Presenting as Atypical Hemolytic Uremic Syndrome: A Case Series and Literature Review.

Abstract

Atypical hemolytic uremic syndrome (aHUS) is a severe condition marked by microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury (AKI). It may result from complement gene mutations or be triggered by other underlying conditions. Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme that protects red blood cells, and its deficiency can cause hemolytic anemia when triggered by certain factors. We report two cases of children diagnosed with G6PD deficiency who initially presented with clinical features of aHUS. In both cases, young boys developed severe AKI and hemolysis, requiring dialysis and treatment with complement inhibitors. A genetic study identified pathogenic mutations in the G6PD gene. Misdiagnosis delayed appropriate management of their underlying condition, highlighting the importance of considering G6PD deficiency in the differential diagnosis of hemolytic anemia, particularly in pediatric patients from high-risk ethnic backgrounds or those with severe hemolysis. To our knowledge, this is the first reported case series in Saudi Arabia linking G6PD deficiency to clinical presentations of aHUS.