[Alport's-syndrome: diagnosis, light- and electronmicroscopic findings (author's transl)].
Alport's syndrome is a hereditary nephropathy with grave prognostic consequences. The occurrence of this disease is probably more frequent than was assumed until now - many cases are not immediately recognized as such. It is possible to make a clinical diagnosis from detailed family histories and through careful examinations of family members including audiometric tests. In the early stages of the disease children merely have recurrent macro- or microhematuria. Renal functional tests are normal and there is general well-being of the patient. Whereas the biopsy specimens examined by light microscopy show non-specific alterations, those examined under the electronmicroscope already show specific defects of the basement membrane. Our studies lead us to believe that these morphologic findings correspond with changes of the basement membrane, detectable by immunochemical investigations. 6 of 12 patients have been biopsied in recent time and the above cited typical changes of the basement membrane could be demonstrated. Therefore these investigations are recommended in Alport's syndrome.
D000293:Adolescent; D001485:Basement Membrane / Q000473:pathology; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D005132:Eye Manifestations; D005190:Family; D005260:Female; D006417:Hematuria / Q000209:etiology; D006801:Humans; D007158:Immunologic Techniques; D007674:Kidney Diseases / Q000209:etiology; D008297:Male; D008487:Medical History Taking; D009394:Nephritis, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D011507:Proteinuria / Q000209:etiology; D011776:Pyuria / Q000209:etiology
Alport-Syndorm: Diagnosestellung, licht- und elektronenmikroskopische Belfunde