Name
PYRUVATE KINASE DEFICIENCY
DESCRIPTION
DETAIL
CAUSES : 1. GENETIC 2. ACQUIRED - ACUTE LEUKEMIA, PRELEUKEMIA - REFRACTORY SIDEROBLASTIC ANEMIA - COMPLICATIONS FROM CHEMOTHERAPY -------------------------------------------------------------------------- D.D. : - AC MYELOGENOUS LEUKEMIA - ANEMIA - APLASTIC ANEMIA - BILIRUBIN, IMPAIRED CONJUGATION - DIC - ELLIPTOCYTOSIS, HEREDITARY - FOLIC ACID DEFICIENCY - G6PD - HAEMOGLOBIN C DISEASE - HAEMOLYTIC ANEMIA - PERNICIOUS ANEMIA - PAROXYSMAL NOCTURNAL HEMOGLOBINURIA - SICKLE CELL ANEMIA - SPHEROCYTOSIS, HEREDITARY - THOMBOTIC THROMBOCYTOPENIC PURPURA* HEMATOCRIT - RANGE FROM 17 - 37 % * RBC - NORMOCHROMIC & MACROCYTIC * RETICULOCYTE COUNT - 5 - 15% * WBC & PLATELETS - NORMAL TO SLIGHTLY INCREASED * PRECISE DIAGNOSIS DEPENDS ON SPECIFIC ENZYME TESTING * COLD AGGLUTINATION TEST - NEGATIVE * COOMBS TEST - NEGATIVE * OSMOTIC FRAGILITY TEST - NEGATIVE
TYPENOTES
AUTOSOMAL RECESSIVE CONDITION.Medical Care Care is predominantly supportive in nature in patients with mild-to-moderate disease. However, splenectomy is useful in those with severe disease. " Red blood cell transfusion may be necessary if the hemoglobin value falls significantly. This tends to occur in early childhood and during periods of physiologic stress, such as infection and pregnancy. " " Two reports have addressed PKD during pregnancy. " o Uncomplicated pregnancy, delivery, and birth has been reported despite a decline in the hemoglobin value to 6.8 g/dL during pregnancy. o Significant puerperal jaundice has been successfully treated with conservative measures. " Bone marrow transplantation was performed on a 5-year-old boy with severe hemolytic anemia due to PKD and heterozygous hemoglobin E with ABO-identical and HLA-identical marrow from his sister. The patient reportedly is healthy, without symptomatology of PKD, at more than 3 years posttransplant. Surgical Care Splenectomy is indicated only for patients with severe anemia. " Splenectomy can reduce anemia, but hemolysis will not be abolished. " " The hemoglobin concentration typically increases by 1-3 g/dL. " " Transfusion requirements typically decrease. " " The danger of an aplastic crisis with infection is reduced. " " Growth delay, if present, may be reversed, and catch-up growth may ensue. " " Splenectomy does not improve mild anemia. " " Splenectomy should be performed by an experienced surgeon, especially in pediatric patients. " " Consider the susceptibility to infection following splenectomy, especially in children younger than 5 years. Activity High-impact contact sports are contraindicated in patients with significant splenomegaly. In/Out Patient Meds " Prophylactic antibiotics should be administered to young patients postsplenectomy. " " Supplemental folic acid and other B vitamins help prevent deficiencies from increased erythrocyte production. " " Large doses of salicylates should be avoided in patients with severe anemia because salicylates inhibit oxidative phosphorylation, thereby causing further ATP depletion. Deterrence/Prevention " Monitor the hematocrit value carefully during times of physiologic stress. " " Prenatal diagnosis is possible with DNA testing if the defects in the parents are known. Prenatal enzymatic testing is not optimal because a large amount of fetal blood is required and the test has a high rate of false-negative results. Complications " Cholecystolithiasis is common in the first decade of life for children with severe anemia. " " Splenectomy increases the risk of (1) sepsis by encapsulated bacteria for children and (2) thromboembolic disease for adults. " " Ischemic stroke has been reported in previously undiagnosed young adults with PKD. " " Multiple-transfusion therapy can cause iron overload. " " Blood transfusions expose a person to the risk of contracting certain infections that are not well detected (eg, HIV disease, hepatitis C). " " Repeated transfusions during pregnancy increase the risk of alloimmunization, which may lead to fetal complications. Prognosis " Mild and moderate forms of the disease are associated with an excellent prognosis. " " Severe forms of the disease are mostly symptomatic during early childhood. Following early childhood, the disorder is much better tolerated. " " Most morbidity develops from the complications mentioned. " " Hydrops fetalis has been reported in a severely affected fetus. Patient Education " Patients should be educated to regularly use folic acid and B vitamin supplements and to avoid salicylates. " " The risk regarding splenectomy versus multiple transfusions should be discussed with parents of children with severe anemia. " " If a child has splenomegaly, parents should be instructed to have the child refrain from participating in contact sports. " " Because inheritance is phenotypically autosomal recessive, parents and patients should be educated about the low risk of reoccurrence. DRUG TREATMENT : 1. VITAMINS : FOLIC ACID IS USED EXTENSIVELY IN HAEMOLYTIC ANEMIA. MEGALOBLASTIC ANEMIA MAY DEVELOP IF FOLIC ACID IS NOT SUPPLIED. - FOLIC ACID 2. ANTIBIOTICS : PTS WHO UNDER GO SPLEENECTOMY ARE PRONE TO FULMINANT INFECTION. - PENICILLIN V POTASSIUM - ERYTHROMYCIN 3. VACCINES : - PNEUMOCOCCAL POLYVALENT VACCINE - HAEMOPHILUS B CONJUGATE VACCINE - PNEUMOCOCCAL 7-VALENT CONJUGATE VACCINE
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
OSMOTIC FRAGILITY TEST, COOMBS TEST DIRECT, COMPLETE BLOOD COUNT, COLD AGGLUTININ