| 单词 |
Niemann-Pick Disease Type B |
| 释义 |
Niemann-Pick Disease Type B | 《英文msh词典》Niemann-Pick Disease Type B | | [入口词] Niemann-Pick Disease Type B | | [主题词] Niemann-Pick Diseases | | [英文释义] A group of diseases marked by autosomal recessive inheritance and accumulation of sphingomyelin in cells of the RETICULOENDOTHELIAL SYSTEM. They are divided into 5 subtypes: A-E. Type A (classic infantile form) is caused by a deficiency of SPHINGOMYELIN PHOSPHODIESTERASE and presents at age 6-12 months with progressive hepatosplenomegaly and neurologic deterioration. Type B (non-neuronopathic form) presents in childhood with hepatosplenomegaly and pulmonary infiltrates. Type C (chronic neuronopathic form) is caused by defective intracellular cholesterol transport and is divided into severe infantile,late infantile,juvenile,and neonatal hepatitis forms. Type D (Nova Scotian Variant) is phenotypically similar to type C. Type E is an adult non-neuronopathic form. (From Menkes,Textbook of Child Neurology,5th ed,pp101-4) |
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