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

Marwa Abu El Haija, You Wen Qian, Akila Muthukumar

Research output: Contribution to journalArticle

8 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)1463-1465
Number of pages3
JournalPediatric Blood and Cancer
Volume61
Issue number8
DOIs
StatePublished - 2014

Keywords

  • Dyserythropoiesis
  • Hemolytic anemia
  • Multicystic dysplastic kidney
  • Pyruvate kinase deficiency

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

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