| 释义 |
EncyclopediaSeeSidney FarberFarber disease
dis·sem·i·nat·ed lip·o·gran·u·lo·ma·to·sis [MIM*228000] a form of mucolipidosis that develops soon after birth because of a deficiency of ceramidase; characterized by swollen joints, subcutaneous nodules, lymphadenopathy, and accumulation in lysosomes of affected cells of PAS-positive lipid consisting of ceramide. Synonym(s): Farber disease, Farber syndromeFarber disease (far'ber) [Sidney Farber, U.S. pediatric pathologist, 1903–1973] A rare autosomal recessive lysosomal storage disease in which abnormal by-products of lipid metabolism accumulate in the brain. It is one of the lipid storage diseases, which include Gaucher's disease and Niemann-Pick disease. Synonym: ceramidase deficiencyFarber, Sidney, U.S. pediatric pathologist, 1903-1973. Farber disease - a form of mucolipidosis, developing soon after birth because of deficiency of ceramidase. Synonym(s): disseminated lipogranulomatosis; Farber syndromeFarber syndrome - Synonym(s): Farber disease |