OVERVIEW
OVERVIEW
Pyruvate kinase deficiency is an autosomal recessive disorder of hemolytic anemia caused by a defect in the pyruvate kinase gene, resulting in reduced activity or altered nature of pyruvate kinase.
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Department
Hematology
Clinical symptoms
Jaundice, fatigue, dizziness, pallor, palpitations after activity.
Harms
Prolonged anemia can affect cardiovascular function, and hemolysis can also lead to liver, gallbladder and other organ lesions.
Complications
Abnormal liver function, cholelithiasis, iron overload, reentry crisis, nuclear jaundice, pancreatitis, splenic abscess, thrombophilia, etc.
Tests
Blood routine, pyruvate kinase activity measurement, Coombs test, acid hemolysis test, serum indirect bilirubin test, etc.
Diagnosis
Diagnosis is based on clinical manifestations such as anemia, jaundice, combined with pyruvate kinase activity test and blood routine.
Treatment principle
There is no cure yet, symptomatic supportive treatment can be taken.
Curability
It is a hereditary disease and cannot be cured at present. With treatment, symptoms can be improved.
Dietary advice
Breastfeeding is recommended for infants and young children, and a high protein, high vitamin diet is recommended for older children.
Causes
Epidemiology
It is highly prevalent in people of Nordic origin.
Etiology
Autosomal recessive disorder.
Symptoms and diagnosis
Typical symptoms
Clinical manifestations are mostly chronic hemolytic anemia, the age of onset of the disease can be seen at any age, with infants and young children being the most common. After infancy, the anemia tends to improve with age, and there are also cases without anemia in adulthood. Some patients may have been healthy in the past and experience hemolysis as they enter old age or after pregnancy when they experience infections and fatigue. Very few patients do not develop anemia because hemolysis is fully compensated for, and jaundice is the only clinical manifestation.
Diagnostic basis
1. Severe anemia and jaundice in patients with severe disease. 2. Significantly decreased pyruvate kinase activity and elevated 2,3-DPG/ATP ratio. 3.
Treatment
Treatment guidelines
Symptomatic supportive therapy to improve symptoms.
Drug therapy
Adenosine triphosphate (ATP), membrane stabilizers can alleviate symptoms and reduce hemolysis, blood transfusion can be appropriate for severe anemia, and oral folic acid can be given to prevent the occurrence of aplastic crisis or megaloblastic anemia in the bone marrow.
Surgery
Splenectomy has certain efficacy and can be considered in patients over 5 years old with severe anemia.
Other treatments
Neonatal jaundice can be treated with phototherapy and blood transfusion if necessary. Hematopoietic stem cell transplantation can be used according to the situation.
Prognosis
The prognosis is poor for those with early age of onset and severe anemia. Those with late age of onset and hemolysis as a mild chronic process have a better prognosis.
Nursing care
Daily care
1. Let the child have more rest and avoid exertion. 2. Do a good job of psychological care, reduce the child’s crying, and keep the mood relaxed. 3. Follow the doctor’s instructions, regular review, and reasonable use of medication. 4.
Diet
Breastfeeding is recommended for infants and young children. Larger children should be given a high-protein, high-vitamin diet, and avoid greasy, indigestible food.