mucopolysaccharidosis type VIII
Introduction
Introduction to Mucopolysaccharide Storage Disease Type VIII Mucopolysaccharide storage disease type VIII is also called Diferrante syndrome, which is characterized by short stature, mental retardation, multiple and thick hair, abnormal liver and multiple cartilage, normal cornea, and heparin in the urine. The disease is autosomal recessive, which is discovered by Ginlsburg et al. (1977). The 5-year-old boy has the clinical features of Morquio syndrome. Unlike the cultured fibroblasts, there is (35) chondroitin sulfate accumulation. Clear the delay. basic knowledge The proportion of illness: this disease is rare, the incidence rate is about 0.0008%-0.0009% Susceptible people: no special people Mode of infection: non-infectious Complications: swelling
Cause
Mucopolysaccharidosis type VIII cause
(1) Causes of the disease
The disease is autosomal recessive.
(two) pathogenesis
Sulfate heparin and keratan sulfate contain a common sulfuric acid-N-acetylglucosamine, while sulfate-N-acetylgalactosamine is limited to keratan sulfate. These two hexosamine sulfate esterases coexist, and Morquio syndrome may Lack of galactosamine-bound sulfuric acid, and this type may have specificity of sulfuric acid combined with pro-glucosamine, thus causing the accumulation of mucopolysaccharide components in tissue cells and causing corresponding clinical symptoms.
Pathology: the same type of mucopolysaccharidosis.
Prevention
Mucopolysaccharide storage disease type VIII prevention
Glycogen accumulation disease is a group of children with disorders of hereditary glycogen metabolism. It is characterized by excessive accumulation of glycogen in the body tissue and difficulty in decomposition. It is rarely a metabolic disorder of glycogen, resulting in less glycogen storage in the body. The original cumulative disease is not a disease, but a group of diseases. There are 12 kinds of diseases currently identified. The clinical features are characterized by hypoglycemia. The organs involved are mainly liver, kidney and skeletal muscles. Chromosomal recessive inheritance, no gender differences, mostly in childhood, some patients to adults, the disease no longer develops, can maintain general health.
The patients are mainly due to the lack of certain enzymes that break down glycogen, such as glucose-6-phosphatase, -1,4 glucose chymase, phosphofructokinase, hepatic phosphorylation kinase and the like.
The parents of many patients are married to close relatives, so it is necessary to avoid the marriage of close relatives to prevent this disease. Once the glycogen accumulation disease is found, the main measures are to prevent and treat hypoglycemia, to eat a small amount of meals, to limit fat and total calories, to limit physical activity, and to have high serum lactate. It is advisable to take sodium bicarbonate to prevent acidosis, corticosteroids, adrenaline and glucagon to help control hypoglycemia.
Complication
Mucopolysaccharide storage disease type VIII complications Complications swelling
Can be complicated by joint swelling, mild swelling of the liver and spleen.
Symptom
Mucopolysaccharide storage disease type VIII symptoms common symptoms nasal bridge low hepatosplenomegaly joint swelling large eye distance wide intelligence reduction
Generally 2 to 3 years old, the body is shorter than the same age, the upper part is shorter, the limb is relatively long, some patients can be swollen joints, mainly knee joints, the patient's face is abnormal, the nose is low, the eye distance is widened, intelligence Low, the cornea is normal, the hair is thick and thick, the liver and spleen are slightly enlarged, and the heart has no specific performance.
Examine
Examination of VIII type of mucopolysaccharidosis
an examination
1. Metachromatic mucopolysaccharide particles are visible in neutrophils, but this particle is not available in the early stage.
2. Excessive keratin in the urine is a specific change, which is not typical for clinical and X-ray findings, and is helpful for diagnosis.
3. X-ray examination is common with the spine, pelvis, hand and wrist bones and long bones, and is characteristic.
Diagnosis
Diagnosis and identification of mucopolysaccharidosis type VIII
In addition to mental retardation and normal cornea, the other symptoms are basically similar to type IV.
This type of differential diagnosis is the same as type IV.
