A clinicopathological study of Alport syndrome and detection of type Ⅳ collagen chains in Alport patients / 中华肾脏病杂志

ABSTRACT

Objective To analyse the clinicopathological changes of Alport syndrome (AS) and to detect the deposition of type Ⅳ collagen within basement membrane of Alport patients. Methods Fourteen patients with AS (12 families) hospitalized from 1990. 1 to 1996. 6 were investigated. Eleven were male and 3 female (mean age 29. 4 years). Results Microscopic hematuria was found in 13, with recurrent gross hematuria in 7. All had proteinuria. Three patients presented nephrotic syndrome. Progressive renal failure occured in 10 of 11 male(11 - 39 years) and 1 female (40 years). Six patients were treated with hemodialysis, two of them with transplantation. Sensorineural deafness was observed in 9 patients particularly high frequency sound. Anterior lenticonus were presented in 2. It showed heterogeneitic, 50% transmitted as X-linked dominant(XD) trait. In 7 renal biopsies, the findings by light microscopy mostly revealed focal and segmental sclerosis glomerulonephritis (4/7). The results of immunofluorescenc e (IF) were ne gatt ye in 4. Ultrastructural studies showed variable thickening, thinning of glomerular basement membrane (GBM) in 7 specimens with lamellation and basket-weaving of GBM in 1. Using the iIF technique, the ?3, 4, 5 (Ⅳ) chains were absent within both GBM and EBM of 4 male XD-AS patients. Conclusions AS is not a rare hereditary disease characterized by hematuria, proteinuria and progressive renal failure with sensorineural deafness and ocular lesions. Type Ⅳ collagen within Alpori patients' basement membrane is abnormal and iIF study of type Ⅳ collagen chains distribution is useful to confirm the diagnosis of AS.