Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a X-linked enzymopathy. Hemolysis during type 1 diabetes mellitus (T1DM) treatment in patients with G6PD deficiency has been reported, but the underlying pathogenesis is not fully clarified.
Objective and hypotheses: We try to explore the association between the two diseases.
Method: We report a girl in whom hemolysis occurred after diabetic ketoacidosis (DKA) treatment, and review relevant literature.
Results: A 10 year-old girl was admitted for T1DM and a moderate DKA. She was treated with insulin and rapidly recovered. Hemolysis was recognized on day 9 after admission when she appeared transient hypoglycemia, and results of G6PD activity and gene analysis confirmed the diagnosis of G6PD deficiency. Two mutations c.1376G>T and c.1388G>A were detected in her family. Her mother was heterozygous for mutation c.1376G>T, and father was hemizygous for mutation c.1388G>A, while the girl was double heterozygous. The parents had never show hemolysis, probably because the mosaic proportion of deficient red blood cells is too low and the enzymatic activity may relatively decrease not obviously. The mechanism of our patients hemolysis may includes two points. One is that, severe hyperglycemia reduced G6PD activity so that antioxidant from erythrocyte decreased, meanwhile metabolism disorder of DKA promoted the erythrocyte depletion in antioxidant. The other is that, during DKA treatment the glucose levels progressively decreased and even hypoglycemia occurred, making the source of glucose that should have involved the pentose phosphate pathway decreased, and enhancing the inability of the old red blood cells to generate the antioxidant.
Conclusion: The possibility of hemolysis in patients with G6PD deficiency would be increased in case of diabetes crisis. Reducing of G6PD activity by reason of hyperglycemia and decrease source of glucose in the pentose phosphate pathway because of decrease glucose levels may be the mechanism of hemolysis during DKA treatment.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology