Pyruvate Kinase Deficiency: A Near Miss
Journal Title: Indian Journal of Trauma and Emergency Pediatrics - Year 2019, Vol 11, Issue 2
Abstract
Hemolytic anemias are a myriad of conditions with similar signs and symptoms, but having numerous possible treatment options and outcomes. Hence, an accurate diagnosis is very important for treatment, counseling and prognostication of the disease. We present a male child with transfusion dependent anemia, jaundice and splenohepatomegaly. The standard tests for etiological work-up of anemia were normal/negative. He then underwent next generation sequencing, which revealed a mutation in the PKLR gene (confirming the pyruvate kinase deficiency). The child (at present) is being treated with regular packed red cell transfusions and monitoring of the ferritin level (for iron overload). It is emphasized that physicians treating anemic patients must maintain high level of suspicion for pyruvate kinase deficiency (PKD) in equivocal cases. Also, they need to be aware of the newer diagnostic methods available, like next generation sequencing including clinical exome sequencing.
Authors and Affiliations
Milind S. Tullu
Keywords
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- EP ID EP656303
- DOI 10.21088/ijtep.2348.9987.11219.3
- Views 68
- Downloads 0
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