title: Alport syndrome: clinical update.
abstract: This review of the literature on Alport syndrome (AS) places emphasis on genetic and clinical issues related to the sensorineural hearing loss in type III and type IV X-linked AS. The review covers prevalence, medical issues, genetic issues, audiologic findings, vestibular findings, the pathophysiology of hearing loss in type III AS, age- and phenotype-specific normative data and concludes with a discussion regarding future auditory-genetic research with AS.
authors.affiliation: Department of Otolaryngology, Naval Medical Center San Diego, California 92134-5000.
authors.forename: D C
authors.initials: DC
authors.lastname: Wester
authors.forename: C L
authors.initials: CL
authors.lastname: Atkin
authors.forename: M C
authors.initials: MC
authors.lastname: Gregory
mesh_terms: D001309:Auditory Threshold; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D015342:DNA Probes; D003937:Diagnosis, Differential; D005260:Female; D006316:Hearing Loss, High-Frequency / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D006801:Humans; D008297:Male; D009394:Nephritis, Hereditary / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D015995:Prevalence; D012737:Sex Factors; D013701:Temporal Bone / Q000473:pathology; D014724:Vestibular Function Tests; D014722:Vestibule, Labyrinth / Q000503:physiopathology; D014960:X Chromosome
chemical_list: D015342:DNA Probes