hexokinase deficiency
Introduction
Introduction to Hexokinase Deficiency Hexokinasedeficiency (HKD) is an autosomal recessive disorder. In 1967, Valentine et al first reported 3 cases. Twenty patients in 12 unrelated families have been reported, including 1 in 7 years old. The boy is of Chinese descent. basic knowledge The proportion of illness: 0.0005% (with family history, heritability is about 20%. The incidence of no family messenger is 0.0005%) Susceptible people: no special people Mode of infection: non-infectious Complications: endocrine disorders
Cause
Cause of hexokinase deficiency
(1) Causes of the disease
Autosomal recessive inheritance.
(two) pathogenesis
HK is a monomer with a molecular weight of 108kD, which is the first catalytic enzyme of glucose anaerobic glycolysis pathway, and is one of the key rate-limiting enzymes of this pathway. HK has 4 isomers (I, II, III and IV) The red blood cells are mainly type I HK, which can be further divided into Ia, Ib and Ic. TheKIKI is mainly present in the young red blood cells, the level of mature red blood cells is low, and it is a cell age-dependent enzyme. The HKI type is present in lymphocytes and Platelets, HK deficiency patients, lymphocyte HKI type decreased, HKIII type compensatory increase, platelets only 20% to 35% of normal HK activity, after thrombin stimulation, although glycolytic inhibition and high-density particle secretion Loss, but the defects of platelet metabolism have no clinical significance.
The HK type I structural gene is located at 10p11.2. A cDNA clone encoding human HK has recently been isolated from an adult kidney DNA library. The genetic pattern of HK deficiency is autosomal recessive, and in the case of HK deficiency, glucose metabolism Intermediate products and ATP production are reduced, and 2,3-DPG may be reduced or normal.
Prevention
Hexokinase deficiency prevention
Attention should be paid to prevention, eugenics, pre-marital and prenatal examinations.
Complication
Hexokinase deficiency complications Complications, endocrine disorders
Endocrine symptoms
Symptom
Hexokinase deficiency symptoms common symptoms jaundice
About 25% of patients have neonatal hyperbilirubinemia, sometimes even very severe. Most patients have mild anemia or repeated jaundice before the age of 10. Most patients with severe splenomegaly and need blood transfusion therapy. Patients with HK deficiency are generally anemic, but the symptoms of clinical hypoxia are more obvious. Lohr reported a group of 4 young men who, in addition to the lack of HK, also had abnormalities in kidney, bone marrow, endocrine and chromosomes, namely Fanconi anemia.
The confirmation of hexokinase deficiency depends on the analysis of erythrocyte HK activity.
Examine
Examination of hexokinase deficiency
Peripheral blood
Both platelets and white blood cells are reduced.
2.HK activity determination
Platelet and leukocyte HK activity is reduced.
3. Erythrocyte osmotic fragility is increased, self-hemolytic test is normal or glucose and ATP are corrected to increase (type I).
Diagnosis
Diagnosis and identification of hexokinase deficiency
Confirmation of hexokinase deficiency depends on erythrocyte HK activity analysis
