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Niemann-Pick disease
     Niemann-Pick disease is a disease caused by an inherited disorder of lipid metabolism (sphingophospholipids). There is an accumulation of sphingomyelin in the liver, brain, spleen, adrenal glands, kidneys, lymph nodes, skin and blood mononuclear cells.
 

     The disease has an autosomal recessive type of inheritance. The incidence of the disease in boys and girls is the same. Its pathogenesis is associated with a deficiency of sphingomyelinase in the tissues - an acidic lysosomal hydrolase that carries out hydrolytic cleavage of sphingomyelin. 

 

     The clinical picture manifests itself in infancy, mainly in the first half of life. The initial symptoms are the child's refusal to eat and periodic vomiting. Then there is a sharp decrease in weight with the development of hypotrophy, and a delay in psychophysical development. The size of the liver and spleen gradually increases, they are dense, with a smooth surface, painless on palpation; later ascites develops. The skin has a waxy tint with areas of increased pigmentation. There is a lesion of the nervous system. Subsequently, muscle hypotonia develops, a sharp mental retardation, idiocy, deafness, and optic nerve atrophy occurs in many patients. The disease can occur with predominant damage to the nervous system, liver, and spleen.

 

    No specific treatment has been developed. The prognosis is unfavorable. The disease quickly leads to exhaustion and death. Survival beyond the age of five is extremely rare.   Prenatal diagnosis is possible by examining amniotic fluid cells


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Groups of genetic diseases

Diseases of protein metabolism    Autosomal Dominant Disorder    Autosomal recessive diseases    Chromosome syndromes    Diseases inoculated with the X-chromosome    Diseases of carbohydrate metabolism    Diseases of lipid metabolism    Polygenic diseases