A Case Of Neonatal Pyruvate Kinase Deficiency And Literature Review

Objective:With the development of medical technology,the second-generation targeted sequencing method can be used for clinical diagnosis of pyruvate kinase deficiency（especially in the case that could not be confirmed by routine hemolysis examination）.We have treated a newborn with anemia,and conformed the diagnosis of pyruvate kinase deficiency（PKD）through a novel mutation of the PKLR gene.Methods:The infant was born by cesarean section at 38+3 weeks gestational age.The baby had poor reaction after delivery.The skin and mucosa looked pale without yellowish and eruption.The both lungs breathing sound were rough.The heart rate was 140 beats per minute with cardiac regular rhythm,the cardiac sound was weak.No murmur was heard in the precordium area.The abdomen was flat and soft.The liver was 3cm below the right costal margin and 2 cm below the xiphoid.Spleen was 3cm below the left costal margin.The primitive reflex was poor.Count of blood cells（CBC）:The white blood cell count was 69.10×109/L,the percentage of the neutrophilic granulocyte was 24.10%,the percentage of the lymphocyte was 43.50%,the red blood cell count was 1.21×1012/L,the hemoglobin was 47g/L,the hematocrit was 18.0%,the platelet was 82×109/L.After blood transfusion,the hemoglobin was fluctuating from 90g/L to 161g/L.The blood test:the cytomegalovirus（CMV）immunoglobulin G（Ig G）were positive,others were negative.The EB virus DNA test,the herpes simplex virus（HSV）DNA test and the cytomegalovirus（CMV）DNA test showed negative.The blood culture showed negative.The Coombs’ test showed negative.The test of hemostasis and coagulation were negative.The screening for inborn errors of metabolism showed:The glycerinum and the N-acetyltyrosine were increased.We also detected the increasing lymphoblasts and prolymphocytes with iron deficiency in the marrow cell.Results:The baby had a gene test at 9 months of age.The PKLR gene was found to harbor double heterozygous mutations,NM₀00298:exon6:c.941T>C:p.1314 T,NM₀00298:exon6:c.848T>C:p.V283 A,in which the variation inherited from the mother has a certain incidence in the population.This can lead to Pyruvate kinase deficiency,which is transmitted as an autosomal recessive traut.Conclusions:The diagnostic criteria of hereditary non-spherical erythrocyte hemolytic anemia caused by PKD include:（1）As the hemolysis mainly occurred at outside of blood vessels,it should be clarified some symptoms with other chronic hemolytic diseases,such as anemia,jaundice,splenomegaly and so on;（2）With the history of newborn hemolytic anemia,unexplained hereditary non-spherical erythrocyte hemolytic anemia,or severe anemia accompany with pregnancy and serious infection,we should tnink of enzyme deficiency disease of red blood cell.（3）Red blood cell kooks like small and shaped with acanthocyte in the CBC test,sometimes the osmotic fragility of erythrocytes was increased,and the acidified glycerol hemolysis test was abnormal.With the development of medical diagnostic technology,PKD can be conformed through detecting PK activity and the exon and promoter series of PKLR gene.