Cochlear deafness in a Chinese family with Fechtner's syndrome.
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.
Pak
M W
MW
Department of Surgery, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, N.T.
Ng
M H
MH
Leung
C B
CB
van Hasselt
C A
CA
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