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Case Report

Pyruvate Kinase Deficiency: A Near Miss

Milind S. Tullu , Milind S. Tullu1 , Ankita A. Kulkarni2 , Mukesh Agrawal3

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Indian Journal of Trauma and Emergency Pediatrics 11(2):p 41-44, April-June 2019. | DOI: DOI: http://dx.doi.org/10.21088/ijtep.2348.9987.11219.3

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Milind S. Tullu, Ankita A. Kulkarni, Mukesh Agrawal. Pyruvate Kinase Deficiency: A Near Miss. Indian J Trauma Emerg Pediatr. 2019;11(2):41-44.

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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.

Keywords: Hemolytic anemia; Hyperbilirubinemia, Next generation sequencing, PKLR gene, Pyruvate kinase, Transfusion.

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Milind S. Tullu, Ankita A. Kulkarni, Mukesh Agrawal. Pyruvate Kinase Deficiency: A Near Miss. Indian J Trauma Emerg Pediatr. 2019;11(2):41-44.

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DOI: DOI: http://dx.doi.org/10.21088/ijtep.2348.9987.11219.3

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