ESPE Abstracts (2021) 94 P2-159

ESPE2021 ePoster Category 2 Diabetes and insulin (72 abstracts)

Glucose 6 phosphate dehydrogenase deficiency diagnosed with hemolytic anemia triggered by diabetes mellitus type 1

Burce Orman 1 , Semra Cetinkaya 1 , Nergis Oner 2 , Meltem Akcaboy 3 , Ali Fettah 2 , Naz Guleray Lafcı 4 & Senay Savas Erdeve 1


1Department of Pediatric Endocrinology, University of Health Sciences, Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey; 2Department of Pediatric Hematology, University of Health Sciences, Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey; 3Department of Pediatrics, University of Health Sciences, Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey; 4Department of Genetics, University of Health Sciences, Dr. Sami Ulus Obstetrics and Gynecology, Children’s Health and Diseases Training and Research Hospital, Ankara, Turkey


Background: Glucose 6 phosphate dehydrogenase (G6PD) is expressed in all tissues and is necessary for the oxidant stress capacity of cells. G6PD deficiency is the most common enzymopathy in humans; it is among the important causes of hemolytic anemia. It has been reported that severe hemolytic anemia due to G6PD deficiency may develop in newly diagnosed diabetes, especially during the correction of hyperglycemia. To date, 9 cases have been described in the literature. We present a case of hemolytic anemia due to G6PD deficiency secondary to newly diagnosed diabetes.

Case Report: A 4-year-old male patient presented with the complaint of polyuria-polydipsia. Blood glucose was 750 mg/dl. He was tachypneic and weak. In laboratory examination, hemoglobin (Hgb) 13.1 g/dl, glucose 750 mg/dl, Na 126 meq/l, K 4.55 meq/l, HbA1c 15.3%, insulin 2.2 mIU/ml, C peptide 0.3 ng/ml, urine ketone positive, pH 7.29, HCO3 12.4 mmol/l. The patient was diagnosed with diabetic ketoacidosis. Islet and Glutamate Decarboxylase (GAD) autoantibody were positive. On the 10th day of his hospitalization, while receiving subcutaneous insulin therapy, his hypoglycemia was accompanied by tachycardia. After his hypoglycemia resolved, his tachycardia continued. The patient, whose tachycardia continued after the hypoglycemia resolved, was examined. There was no jaundice and organomegaly on the physical examination.The patient was examined. Hgb 8.3 g/dl, thrombocyte 639,000/mm3, leukocyte 13.170/mm3. Anisocytosis and normoblasts were seen in the peripheral smear. Reticulocytosis (10%) was found. Hemolytic anemia was considered with these examinations. G6PD level was found to be low at 0.56 U/gr Hgb. Control Hgb was 7 g/dl, erythrocyte suspension was given, hemoglobin level was found to be 12.2 g/dl. Genetic examination of our patient was performed, and C.653C>T(p.S218F)(p.Ser218Phe) hemizygous mutation was detected in the G6PD gene.

Conclusions: It should be kept in mind that G6PD deficiency may occur in diabetic individuals in the presence of severe anemia and hemolysis may develop with blood glucose regulation.

Key Words: hyperglycemia, anemia, glucose-6-phosphate dehydrogenase, diabetes mellitus

Volume 94

59th Annual ESPE (ESPE 2021 Online)

Online,
22 Sep 2021 - 26 Sep 2021

European Society for Paediatric Endocrinology 

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