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As Alport's syndrome is probably a molecular disorder of basement membrane composition, investigation of the urine on basement membrane components might be a diagnostic aid. It was shown previously that measurement of the excretion of free hydroxylysine and its glycosides, glucosylgalactosylhydroxylysine and galactosylhydroxylysine, was not useful for this purpose. Because the urinary peptide-bound fraction may be more basement membrane specific, a subsequent study was performed with respect to the total (= free and peptide-bound) concentrations and fractions. To establish reference values, urinary specimens of 38 normal subjects of different ages were investigated. These values were used for comparison with data on 30 Alport patients, and 10 Alport siblings. 10 patients with benign recurrent hematuria were also investigated. No marked differences were observed in the excretory rates between normals and patients.

Alport's syndrome probably is a molecular disorder of basement membrane composition. Investigation of urine on basement membrane components such as hydroxylysine and its glycosides, glucosylgalactosylhydroxylysine and galactosylhydroxylysine, may be helpful for diagnosis of the disease. Urinary specimens of 33 patients and 12 siblings were investigated, and the results were compared with those of 14 healthy adults and of 29 healthy children. The urine of patients with glomerulopathies, occurring during childhood (IgA nephropathy, benign recurrent hematuria, poststreptococcal glomerulonephritis, Henoch-Schönlein nephropathy, membranoproliferative glomerulonephritis, and nephrotic syndrome due to minimal lesions), was also investigated. No marked differences between normal and diseased subjects could be demonstrated, with respect to excretion of hydroxylysine and its glycosides, in contrast to data reported in the literature.