[X chromosome dominant hereditary nephritis: characterization by pedigree analysis and simple studies in general practice].
A family with chronic renal disease in the Bernese Oberland (Switzerland) is described. Most family members were directly evaluated by the author. The clinical syndromes identified in different family members are quite variable, reaching from asymptomatic glomerular microhematuria to segmental sclerosing glomerulonephritis with end stage renal failure. Based on the observation of the pedigree over five generations, the disorder appears to be transmitted as an x-chromosomal dominant trait. Together with the ultrastructural diagnosis, the disorder corresponds to an Alport's syndrome Typ IV Atkien.
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Facharzt für Allgemeinmedizin FMH, Meiringen.
D001706:Biopsy; D005194:Family Practice; D006801:Humans; D007668:Kidney / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009394:Nephritis, Hereditary / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome
X-chromosal dominant vererbte Nephritis: Charakterisierung durch Stammbaumanalyse und einfache Untersuchungen in der Allgemeinpraxis.