单词 | alport's syndrome |
释义 | Alport's syndromeAlport's syndrome[al´ports]Alport's syndromeA rare inherited form of the kidney disease GLOMERULONEPHRITIS often associated with perceptive deafness and sometimes CATARACT. The syndrome is caused by defects in the Type IV collagen of basement membranes due to gene mutations. It usually begins in childhood or early adult life with blood in the urine. There may also be short sight (MYOPIA), RETINITIS PIGMENTOSA and THROMBOCYTOPENIA. (Arthur Cecil Alport, South African physician, 1880–1959). |
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