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ENT manifestations of alkaptonuria: report on a case series

Published online by Cambridge University Press:  08 October 2015

R A Steven ,
A J Kinshuck ,
M S McCormick  and
L R Ranganath
R A Steven*
Affiliation:
ENT Department, Broadgreen Hospital, Royal Liverpool and Broadgreen University Hospitals NHS Trust, Liverpool, UK
A J Kinshuck
Affiliation:
ENT Department, Broadgreen Hospital, Royal Liverpool and Broadgreen University Hospitals NHS Trust, Liverpool, UK
M S McCormick
Affiliation:
ENT Department, Broadgreen Hospital, Royal Liverpool and Broadgreen University Hospitals NHS Trust, Liverpool, UK
L R Ranganath
Affiliation:
Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, UK
*
Address for correspondence: Mr Richard A Steven, ENT Department, Broadgreen Hospital, Royal Liverpool and Broadgreen University Hospitals NHS Trust, Kent Lodge, Thomas Drive, Liverpool L14 3LB, UK E-mail: richardsteven@doctors.org.uk
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Abstract

Background:

Alkaptonuria is an inborn error of metabolism. It is a multisystem disease with characteristic ENT manifestations. This paper reports, for the first time, the ENT findings in a cohort of alkaptonuria patients.

Method:

Patients attending the National Centre for Alkaptonuria (Royal Liverpool and Broadgreen University Hospitals NHS Trust) underwent a full ENT assessment.

Results:

Eighteen of the 20 patients (90 per cent) had an ENT sign or symptom. These included discolouration of the pinna, cerumen, nasal septum and pharynx.

Conclusion:

Discolouration of cerumen may occur before 30 years of age and may therefore be an important early clinical sign. Further audiological assessment of patients is needed to clarify if an association exists between alkaptonuria and hearing loss. Alkaptonuria is a condition that could present to the otolaryngologist. Successful early diagnosis and referral to a specialist centre is essential so that patients can be offered disease-modifying therapy.

Keywords

AlkaptonuriaOchronosisHomogentisic AcidOtolaryngologyEarNasal Septum
Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 129 , Issue 10 , October 2015 , pp. 1004 - 1008
Copyright
Copyright © JLO (1984) Limited 2015 

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