title: Cochlear deafness in a Chinese family with Fechtner's syndrome.
abstract: OBJECTIVE
  To identify the nature of the hearing impairment in the members of a Chinese family with Fechtner's syndrome.
  
  
  METHODS
  Retrospective case review.
  
  
  METHODS
  Tertiary referral center.
  
  
  METHODS
  A Chinese family with a variant of Alport's syndrome: high-tone sensorineural hearing loss, proteinuria, macrothrombocytopenia, and ocular disease.
  
  
  METHODS
  The diagnosis of Fechtner's syndrome was confirmed by the characteristic ultrastructure of the Döhle-like inclusion bodies in the neutrophils of the mother and her three children. Pure-tone audiometry, evoked response audiometry (ERA), and distortion product otoacoustic emissions (DPOAE) were performed in two subjects to investigate the hearing impairment.
  
  
  METHODS
  The parameters of the ERA and DPOAEs were correlated.
  
  
  RESULTS
  In both subjects, the ERA was within normal limits, and there were no measurable DPOAEs in frequencies >2 kHz.
  
  
  CONCLUSIONS
  The hearing loss in Fechtner's syndrome is cochlear rather than neural.
authors.affiliation: Department of Surgery, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, N.T.
authors.forename: M W
authors.initials: MW
authors.lastname: Pak
authors.forename: M H
authors.initials: MH
authors.lastname: Ng
authors.forename: C B
authors.initials: CB
authors.lastname: Leung
authors.forename: C A
authors.initials: CA
authors.lastname: van Hasselt
mesh_terms: D000328:Adult; D001301:Audiometry, Pure-Tone / Q000379:methods; D002648:Child; D002681:China; D003051:Cochlea / Q000503:physiopathology*; D005128:Eye Diseases / Q000235:genetics; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D006801:Humans; D008297:Male; D009393:Nephritis / Q000235:genetics; D009504:Neutrophils / Q000648:ultrastructure; D017084:Otoacoustic Emissions, Spontaneous / Q000502:physiology; D010375:Pedigree; D012720:Severity of Illness Index; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics