| 释义 |
Fabry disease
Fa·bry dis·ease (fah'brē), [MIM*301500] disease due to deficiency of α-galactosidase and characterized by abnormal accumulations of neutral glycolipids (for example, globotriaosylceramide) in endothelial cells in blood vessel walls. Clinical findings include angiokeratomas on the thighs, buttocks, and genitalia; hypohidrosis; paresthesia in the extremities, cornea verticillata, and spokelike posterior subcapsular cataracts. Death results from renal, cardiac, or cerebrovascular complications; X-linked recessive inheritance caused by mutation of the α-galactosidase gene (GLA) on Xq. Synonym(s): angiokeratoma corporis diffusum, diffuse angiokeratoma, glycolipid lipidosisFabry disease (fä′brē)n. An X-linked lysosomal storage disease marked by progressive symptoms including burning pain in the hands and feet, sweating, and purple skin lesions, with death resulting from renal, cardiac, or cerebrovascular complications.Fa·bry dis·ease (fah'brē di-zēz') A disorder resulting from deficient α-galactosidase and characterized by abnormal accumulations of neutral glycolipids (e.g., globotriaosylceramide) in endothelial cells in blood vessel walls; clinical findings include angiokeratomas on the thighs, buttocks, and genitalia; hypohidrosis; paresthesia in extremities; cornea verticillata; and spokelike posterior subcapsular cataracts. Death results from renal, cardiac, or cerebrovascular complications. An X-linked recessive inheritance that is caused by mutation of the α-galactosidase gene (GLA) on Xq.
Synonym(s): Anderson-Fabry disease, Ruiter-Pompen disease, Sweeley-Klionsky disease. Fabry disease See ANDERSON-FABRY DISEASE.Fabry, Johannes, German dermatologist, 1860-1930. Anderson-Fabry disease - Synonym(s): Fabry diseaseFabry disease - an X-linked recessive disorder of glycosphingolipid metabolism. Synonym(s): Anderson-Fabry disease; diffuse angiokeratoma; glycolipid lipidosis |