mucopolysaccharidosis type VII
Introduction
Introduction to Mucopolysaccharide Storage Disease Type VII Mucopolysaccharidosis type VII is also known as Goldberg syndrome, -glucuronidase deficiency. It is characterized by normal or slightly backward intelligence, bone changes, special face, dwarf, hepatosplenomegaly and sputum, and excessive serotonin sulfate can be excreted in the urine. It is an autosomal recessive genetic disease, although the biochemical defects are the same, The clinical manifestations and onset age of each case were different. basic knowledge The proportion of illness: 0.02% Susceptible people: no special people Mode of infection: non-infectious Complications: neonatal hepatosplenomegaly umbilical hernia inguinal hernia mental retardation hydrocephalus
Cause
Mucopolysaccharidosis type VII cause
(1) Causes of the disease
The cause of this disease is autosomal recessive inheritance.
(two) pathogenesis
The pathogenesis of this disease is -glucuronidase deficiency, and the gene is located at 7q21.23~q22. Except for keratan sulfate, all acidic mucopolysaccharides contain the terminal part of glucuronide, and this end part is -structure. Form, combined with acetyl or hexose hexose sulfate, when these acidic mucopolysaccharides are hydrolyzed, the end of -glucose is exposed due to continuous enzymatic hydrolysis by endogenous glucuronidase (phosphatase) or exoglycosidase. In order to further decompose the -glucuronide chain by the external glucuronidase, -glucuronidase must be acted upon. The patient with mucopolysaccharidosis VII lacks -glucuronidase, so partial hydrolysis of sulfuric acid occurs. Chondroitin, dermatan sulfate, etc., are deposited in tissue cells and cause disease.
Prevention
Mucopolysaccharide storage disease type VII 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 VII complications Complications Neonatal hepatosplenomegaly, umbilical hernia, inguinal hernia, mental retardation, hydrocephalus
The disease can be complicated by hepatosplenomegaly, umbilical hernia or inguinal hernia, multiple respiratory infections, obvious mental retardation, aortic stenosis, hydrocephalus, and neonatal jaundice and thrombocytopenia.
Symptom
Mucopolysaccharide storage disease type VII symptoms common symptoms unresponsive dull upper respiratory tract infection liver splenomegaly slow growth thrombocytopenia eye wide jaundice cerebral hydrocephalus
Shortly after birth, special appearance, hepatosplenomegaly and growth retardation, repeated respiratory infections, slow response, hunchback and other deformities, rough face, widened distance between the eyes, flat nose, maxillary protrusion, fine corneal periphery The matrix changes, and some patients have normal corneas, skeletal abnormalities are very variable, can be progressively increased, can also be mild to moderate changes, multiple bone dysplasia, posterior curvature of the spine, chicken breast, rib valgus Short stature, hepatosplenomegaly, umbilical hernia or inguinal hernia, multiple respiratory infections, obvious mental retardation, some patients may have aortic stenosis, all patients have no deafness, some patients may have hydrocephalus, Newborn diarrhea and thrombocytopenia are still diagnosed in newborns, and there may be severe developmental delay and mental retardation.
Examine
Examination of mucopolysaccharidosis type VII
The excessively excreted mucopolysaccharide in the urine is sulphate skin, chondroitin sulfate can also be increased to varying degrees, and neutrophils and lymphocytes have metachromatic granules.
X-ray examination: X-ray showed multiple osteogenesis imperfecta, upper limb bone shortened, accompanied by enlargement of the proximal medullary cavity, osteophyte development showed accelerated acceleration, but periosteal new bone formation was rare, sternum, tubular bone thickening Etc., the vertebral body becomes flat and small, the kyphosis is convex, the intervertebral space is relatively widened, the vertebral body is intact, there is no tongue-like protrusion, the anterior rib is widened, the lower edge of the rib is everted, the humerus is small, and the humerus is irregular. In the translucent area, the edge is hardened, and the lower edge of the scapula is similarly changed. The long bone metaphysis and the acetabulum are irregular and may be confused with the rickets.
Diagnosis
Diagnosis and identification of mucopolysaccharidosis type VII
According to clinical symptoms, X-ray findings and laboratory tests, it can be considered as mucopolysaccharidosis type VII, and further confirmed by cell culture to find -glucuronidase deficiency, can be diagnosed.
