[Fechtner syndrome. A rare differential Alport syndrome diagnosis].
In this article, we report on a family in which five examined members showed clinical signs of Fechtner syndrome, a condition which consists of hearing loss (49%), macro-thrombocytopenia (100%), leukocyte inclusion bodies (100%), eye anomalies (54.3%), and nephritis (38.7%). Hearing loss in Fechtner syndrome appears to be sensorineural with the higher frequencies primarily affected. One aim of the present report was to work out the clinical appearance of hearing loss compared to hearing loss in Alport's syndrome. The most striking difference between hearing loss in Fechtner syndrome and that in Alport's syndrome was that the vast majority of hearing disorders in the latter occur in male patients, which is not the case in Fechtner syndrome. Hearing loss in Fechtner syndrome develops from the second decade of life and progresses slowly with several episodes of sudden deafness.
Delb
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Universitätsklinik und Poliklinik für Hals-Nasen- Ohrenheilkunde, Homburg/Saar. hnowdel@med-rz.uni-sb.de
Schenk
J
J
Iro
H
H
D000293:Adolescent; D000328:Adult; D000368:Aged; D001301:Audiometry, Pure-Tone; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006474:Hemorrhagic Disorders / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009394:Nephritis, Hereditary / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D013921:Thrombocytopenia / Q000175:diagnosis / Q000235:genetics*