Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney

Pediatr Blood Cancer. 2014 Aug;61(8):1463-5. doi: 10.1002/pbc.24953. Epub 2014 Jan 30.

Abstract

Pyruvate kinase (PK) deficiency is the commonest enzyme deficiency in the glycolytic pathway leading to hemolytic anemia secondary to decreased Adenosine Triphosphate (ATP) synthesis in the red cells. synthesis. PK deficiency due to mutations in the PKLR (1q21) gene leads to highly variable clinical presentation ranging from severe fetal anemia to well compensated anemia in adults. We describe dyserythropoiesis in the bone marrow of a child with transfusion dependent anemia and unilateral multicystic dysplastic kidney (MCDK) mimicking Congenital Dyserythropoietic Anemia type I (CDA type I). Persistently low erythrocyte PK levels and double heterozygous mutations present in the PKLR gene confirmed the diagnosis of PK deficiency.

Keywords: dyserythropoiesis; hemolytic anemia; multicystic dysplastic kidney; pyruvate kinase deficiency.

MeSH terms

  • Adult
  • Anemia, Dyserythropoietic, Congenital* / complications
  • Anemia, Dyserythropoietic, Congenital* / genetics
  • Anemia, Dyserythropoietic, Congenital* / pathology
  • Anemia, Hemolytic, Congenital Nonspherocytic* / complications
  • Anemia, Hemolytic, Congenital Nonspherocytic* / genetics
  • Anemia, Hemolytic, Congenital Nonspherocytic* / pathology
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Multicystic Dysplastic Kidney* / complications
  • Multicystic Dysplastic Kidney* / genetics
  • Multicystic Dysplastic Kidney* / pathology
  • Mutation*
  • Pyruvate Kinase / deficiency*
  • Pyruvate Kinase / genetics
  • Pyruvate Metabolism, Inborn Errors* / complications
  • Pyruvate Metabolism, Inborn Errors* / genetics
  • Pyruvate Metabolism, Inborn Errors* / pathology

Substances

  • Pyruvate Kinase

Supplementary concepts

  • Pyruvate Kinase Deficiency of Red Cells