[Nephropathy and deafness (Alport syndrome) without positive family history (author's transl)].
This is a report of a 22-year-old man affected with hereditary nephropathy and deafness (Alport syndrome) without positive family history. The diagnosis is based on the typical clinical history, presence of symmetrical neural deafness, and terminal stage of renal insufficiency, that could not be classified otherwise following renal biopsy. The differential diagnosis and genetics are discussed.
D000328:Adult; D001299:Audiometry; D003638:Deafness / Q000209:etiology; D003937:Diagnosis, Differential; D005823:Genetics; D005921:Glomerulonephritis / Q000209:etiology; D006320:Hearing Tests; D006417:Hematuria; D006801:Humans; D008297:Male; D009394:Nephritis, Hereditary / Q000175:diagnosis* / Q000209:etiology; D009395:Nephritis, Interstitial / Q000209:etiology; D010375:Pedigree; D013290:Streptococcal Infections / Q000175:diagnosis
Nephropathie mit Innenohrschwerhörigkeit (Alport-Syndrom) bei negativer Familienanamnese