[Alport syndrome: 15-year follow-up in 28 cases].
Twenty-eight patients aged from 18 mo. to 23 y. (at the onset of the diseases) affected by Alport's syndrome (AS), were studied during last 15 years. The mean time of observation was 10 +/- 0.7 years. Two cases progressed to renal failure at 15 and 21 years respectively, while 26 patients have normal renal function within the 2a decade of life. The diagnosis of hereditary nephritis (AS) was based on the following criteria: Existence of affected kindred. Perceptive deafness. Basal membrane ultrastructural abnormalities. A late exact diagnosis was made in some patients without ascertainable familiarity and without early ultrastructural glomerular study. Perceptive deafness occurred chiefly after 6-8 years of life, increasing the diagnostic difficulties. Isolated hematuria was present in 18 cases (64%) and associated proteinuria (or NS) in 10 (36%). Recurrent otitis media worsened the hearing loss in 5 cases (17.83%). An immuno-allergologic study was carried out because of the great frequency of allergic diseases, respiratory mainly. A significative decrease of plasmatic and secretory IgA was observed in those patients who underwent to recurrent otitis media. The features suggestive of AS in our patients, in addition to the familiarity, were gross haematuria in childhood and diffuse GBM splitting and splintering. Heavy proteinuria and nephrotic syndrome associated to early deafness and to male sex indicate a poor prognosis; but several females also can be affected by serious course of the disease.
D000293:Adolescent; D000328:Adult; D001485:Basement Membrane / Q000648:ultrastructure; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007676:Kidney Failure, Chronic / Q000209:etiology; D007678:Kidney Glomerulus / Q000648:ultrastructure; D008297:Male; D009394:Nephritis, Hereditary / Q000150:complications / Q000175:diagnosis / Q000276:immunology / Q000473:pathology*; D010033:Otitis Media / Q000209:etiology; D011379:Prognosis; D012737:Sex Factors
La sindrome di Alport: follow-up di 15 anni in 28 casi.