Letters to the Editor Indian Pediatrics 2004; 41:630-631 |
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Glucose-6-Phosphate Dehydrogenase Deficiency with Bilateral Cataract |
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Laboratory investigations revealed hemoglobin 8.4 g/dL, WBC count 6000/mm3, platelets 386,000/mm3, MCV 101.6 fl, MCH 30.4 pg, MCHC 30 g/dL, red blood cell (RBC) count 2.76 million/mm3 and absolute reticulocyte count 11%. Peripheral smear showed macrocytic erythrocytes with polychromasia. Total bilirubin was 3 mg/dL; direct bilirubin 0.7 mg/dL; serum creatinine 0.6 mg/dL; liver enzymes normal; hemoglobin electrophoresis normal; direct Coombs’ test negative; and bone marrow examination revealed erythroid hyperplasia. Methemo-globin reduction test showed defi-ciency of G6PD enzyme in erythrocytes. On quantitative analysis, G6PD was 93.7 mU/109 erythrocytes (normal: 118-144 mU/109 erythrocytes). Screening for galactosemia in view of early-onset bilateral cataracts was negative with absence of reducing substances in urine. The patient had congenital nonspherocytic hemolytic anemia due to G-6-PD deficiency with episodic drops in hemoglobin most probably due to cotrimoxazole exposure. G6PD deficiency results in reduced glutathione activity in the lens, making the lens more prone to oxidative damage and resultant aggregation of lens proteins. The development of bilateral cataract at the age of 2 years in a develop-mentally normal child may have been due to the oxidative stress in the lens from G-6-PD deficiency. There have been three previous reports of early-onset childhood cataract and G-6-PD deficiency(3-5). It, however, remains unclear as to why certain G-6-PD variants predispose to cataract formation. In view of the epidemio-logical studies suggesting the association of G-6-PD deficiency and role of oxidative stress in causation of adult human cataract, and some sporadic reports of childhood cataract with G-6-PD deficiency without any other obvious cause, it is reasonable to consider excluding G-6-PD deficiency in children with cataract. Sameer Bakhshi,
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