Niemann-Pick disease
Introduction
Introduction to Niemann-Pick's disease Niemaoh-Pickdisease (NPD) is also known as sphingomyelinlipidosis, a familial lipid-like metabolic disorder. It is characterized by a large number of foam cells containing sphingomyelin in whole mononuclear macrophages and the nervous system. Higher Chalk disease is rare and is autosomal recessive, with more Jewish morbidity, with an incidence of up to 1/25,000. There are currently at least five types. The disease is often recessively inherited by the chromosomes. Most patients are married to close relatives of their parents. According to this situation, the incidence of the disease can be reduced from the perspective of strengthening the strict implementation of the marriage law prohibiting marriage of close relatives, effectively improving the people's physical fitness. basic knowledge The proportion of sickness: 0.00001% Susceptible people: no special people Mode of infection: non-infectious Complications: deafness, malnutrition, ataxia, dementia
Cause
Cause of Niemann-Pick's disease
Cause:
This disease is a sphingomyelinase deficiency caused by sphingomyelin metabolism disorder, resulting in the accumulation of the latter in the mononuclear-macrophage system, liver, splenomegaly, central nervous system degeneration.
The sphingomyelin is formed by the attachment of N-sphingosine to a molecule of phosphocholine at the C1 site. The sphingomyelin is derived from various cell membranes and red blood cell matrices, and is catalyzed by cellular metabolism and senescence. After phagocytosis.
The activity of this enzyme is highest in normal liver, and the liver, kidney, and small intestine are also rich in this enzyme. The activity of the enzyme in the liver and spleen of this patient is reduced to less than 50%.
Prevention
Niemann-Pick's disease prevention
The disease is often recessively inherited by the chromosomes. Most patients are married to close relatives of their parents. According to this situation, the incidence of the disease can be reduced from the perspective of strengthening the strict implementation of the marriage law prohibiting marriage of close relatives, effectively improving the people's physical fitness.
Complication
Niemann-Pick's disease complications Complications, deafness, malnutrition, ataxia, dementia
Can be complicated by rash, deafness, malnutrition, mental decline, ataxia, convulsions, dementia and other neurological symptoms.
Symptom
Symptoms of Niemann-Pick's disease Common symptoms of supranuclear vertical eye muscles Liver splenomegaly SM accumulation increased muscle tone decreased cell enzyme activity abnormal peripheral blood hemolymph... Astragalus vomiting vomiting skin dry yellow step Unstable state
The main symptoms are hepatosplenomegaly, anemia, long-term illness, malnutrition, developmental delay, and some may have deafness, convulsions, muscle rigidity and muscle tone decline, and the Niemann-Pick cells can be diagnosed in the bone marrow. The types are as follows:
1. Acute neurotype (type A or infant type) 2. Non-neurotype (-type or visceral type) 3. Juvenile type (C-type chronic neurotype) 4. Nova-scotia type (D-type) 5. Adult adult Onset.
Examine
Niemann-Pick's disease check
1. Hemoglobin is normal or has mild anemia.
2, bone marrow.
3, plasma cholesterol, total lipids can be elevated, SGPT mildly elevated.
4, urinary excretion of sphingomyelin increased significantly.
5, liver, spleen and lymph node biopsy have piles, into pieces or diffuse foam cell infiltration, sphingomyelin.
6, X-ray inspection.
7. Determination of sphingomyelinase activity of leukocytes or cultured fibroblasts, and different types of enzyme activities.
Diagnosis
Niemann-Pick's disease diagnosis and identification
diagnosis
1 hepatosplenomegaly; 2 with or without neurological damage or fundus cherry erythema; 3 peripheral blood lymphocytes and monocyte cytoplasm with vacuoles; 4 bone marrow can find foam cells; 5X line lungs are miliary or reticular Infiltration; 6 conditions can be used for the determination of sphingomyelinase activity, sphingomyelin excretion, liver, spleen or lymph node biopsy confirmed.
Differential diagnosis
1, high snow disease infant type: mainly liver, when the muscle tension is paralyzed, sputum, no fundus cherry erythema, lymphocyte slurry without vacuole, serum acid phosphatase increased, high snow cells found in the bone marrow.
2, Wolman disease: no fundus cherry erythema, X-ray abdominal plain film can be seen double adrenal gland enlargement, the shape is unchanged, there is diffuse punctate calcification shadow, lymphocyte cytoplasm has vacuoles.
3, GM gangliosidase lipid disease type I: birth has a appearance characteristics, high forehead, low nose, thick skin, 50% of cases have fundus cherry erythema and lymphocyte pulp vacuoles, X-ray visible multiple bone dysplasia Especially the vertebrae.
4, Hurler disease (mucopolysaccharide type I): liver spleen, poor intelligence, lymphocyte cytoplasm has vacuoles, bone marrow has foam cells and other similar NPD, heart defects, multiple bone dysplasia, no lung infiltration, urinary mucopolysaccharide Increased discharge, neutrophils have special particles, shape after 6 months, bone changes, vision loss, corneal opacity.
