Leukocyte glucose-6-phosphate dehydrogenase deficiency



OVERVIEW

OVERVIEW

Leukocyte glucose 6-phosphate dehydrogenase deficiency is an inherited genetic defect in which the activity of glucose-6-phosphate dehydrogenase is significantly reduced in the patient’s neutrophils and is characterized by recurrent recurrent bacterial infections of various kinds since childhood.

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Department

Infection, Pediatrics

Synonyms

G-6-PD deficiency

Clinical Symptoms

Prone to staphylococcal, Escherichia coli, Serratia marcescens, and various fungal infections, chronic granulomatous symptoms, and mild non-spherocytic hemolysis. There may be systemic manifestations such as fever, headache, and malaise, as well as localized redness, swelling, heat, pain, and other purulent manifestations.

Hazards

Prone to a variety of fungal infections, resulting in decreased immunity, seriously affecting the health of the child.

Examination

Blood routine, NBT reduction test, neutrophil G-6-PD activity test, etc.

Diagnosis

Diagnosis is made on the basis of the child’s susceptibility to staphylococcal, Escherichia coli, Serratia marcescens, and many fungal infections, chronic granulomatous symptoms, and mild non-spherocytotic hemolysis, combined with the NBT reduction assay, and neutrophil G-6-PD activity test.

Treatment principle

Symptomatic supportive therapy, infection control.

Curability

Hemolytic episodes are generally self-limiting. Almost all patients with drug- or infection-induced hemolysis return to normal uneventfully. Jaundice in newborns with serosanguineous disease and bilirubin encephalopathy is relatively dangerous, but the mortality rate is very low with prompt treatment.

Dietary advice

Avoid fava beans and their products. High protein, high calorie, high vitamin diet, balanced nutrition, strengthen resistance.

Causes

Epidemiology

The age of onset is mostly under 5 years old.

Causes

Reduced 6-phosphate dehydrogenase deficiency in leukocytes, often to less than 5% of normal, with recurrent infections occurring if the level drops to 1%.

Symptoms and Diagnosis

Typical symptoms

Increased susceptibility to catalase-positive organisms, staphylococcal, Escherichia coli, Serratia marcescens, and fungal infections. In addition to chronic granulomatous symptoms, it is associated with mild non-spherocytic hemolysis.

Diagnostic basis

Children are susceptible to staphylococcal, Escherichia coli, Serratia marcescens, and various fungal infections, chronic granulomatous symptoms, and mild non-spherocytic hemolysis.The diagnosis is based on a normal or decreased NBT reduction assay, low bactericidal activity in most cases, and a decrease in neutrophil G-6-PD activity of less than 5% of normal.

Treatment

Treatment guidelines

Symptomatic supportive therapy, infection control.

Drug treatment

Define the pathogenic bacteria as early as possible and choose sensitive antibiotics. Take bactericidal drugs as the mainstay and in high doses. Continue the medication for 2~3 weeks after the condition is controlled to consolidate the efficacy and prevent recurrence.

Other treatments

Leukocyte infusion or bone marrow transplantation can be tried for severe infection.

Prognosis

Hemolytic episodes are generally self-limiting. Almost all patients with drug- or infection-induced hemolysis return to normal uneventfully. Jaundice in newborns with serosanguineous disease and bilirubin encephalopathy is relatively dangerous, but the mortality rate is very low with prompt treatment.

Nursing care

Daily care

1. Avoid taking medicines that can induce hemolytic attack. 2. Pay attention to rest, avoid exertion, keep happy, strengthen physical exercise and enhance physical fitness. 3.

Dietary management

1. Avoid consumption of fava beans and their products. 2. High protein, high calorie, high vitamin diet, balanced nutrition, strengthen resistance. 3.

Other Attention

Promote pre-marital checkup and eugenics.