Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney.
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.
Department of Pediatric Hematology and Oncology, University of Texas Medical Branch at Galveston, Galveston, Texas.
Marwa Abu El
MA
Haija
You-Wen
YW
Qian
Akila
A
Muthukumar
D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000150:complications / Q000235:genetics / Q000473:pathology; D000746:Anemia, Hemolytic, Congenital Nonspherocytic / Q000150:complications / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D021782:Multicystic Dysplastic Kidney / Q000150:complications / Q000235:genetics / Q000473:pathology; D009154:Mutation; D011770:Pyruvate Kinase / Q000172:deficiency* / Q000235:genetics; D015323:Pyruvate Metabolism, Inborn Errors / Q000150:complications / Q000235:genetics / Q000473:pathology
D011770:Pyruvate Kinase
dyserythropoiesis; hemolytic anemia; multicystic dysplastic kidney; pyruvate kinase deficiency