| 单词 | Niemann Pick's Disease Type E |
| 释义 | Niemann Pick's Disease Type E《英文msh词典》Niemann Pick's Disease Type E [入口词] Niemann Pick's Disease Type E [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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