hydroxylysine and Nephritis--Hereditary

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.

Topics: Adolescent; Adult; Age Factors; Child; Humans; Hydroxylysine; Nephritis, Hereditary; Protein Binding; Sex Factors

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.

Topics: Adolescent; Adult; Child; Child, Preschool; Female; Glomerulonephritis; Glomerulonephritis, IGA; Hematuria; Humans; Hydroxylysine; Kidney Diseases; Male; Nephritis, Hereditary; Nephrotic Syndrome

Eleven children aged 5 to 15 years with hereditary nephritis and twelve children with hypoplastic dysplastic nephropathy were studied. The children with hereditary nephritis were divided into 2 groups while correlating the level of renal excretion of hydroxylysine glycosides (HOLG) with ultrastructure of glomerular basement membrane. The first group was characterized by decreased urinary excretion of HOLG and extremely thin basement membranes, the second one - by increased HOLG excretion and thickened membranes, The children with hypoplastic dysplastic nephropathy which were divided into 2 groups according to HOLG excretion differed in presence or absence of anatomic anomalies and in the number of connective tissue dysembryogenetic stigmata. The data are suggestive of an important role and diversity of metabolic derangement of the collagenic component of basement membranes in the pathogenesis of the diseases studied.

Topics: Adolescent; Basement Membrane; Child; Female; Humans; Hydroxylysine; Kidney; Kidney Glomerulus; Male; Nephritis, Hereditary

Topics: Adolescent; Basement Membrane; Child; Child, Preschool; Connective Tissue; Female; Glycosaminoglycans; Humans; Hydroxylysine; Hydroxyproline; Infant; Kidney Glomerulus; Male; Nephritis, Hereditary

Topics: Adolescent; Child; Child, Preschool; Collagen; Female; Glycosides; Humans; Hydroxylysine; Male; Nail-Patella Syndrome; Nephritis, Hereditary