Hostname: page-component-8448b6f56d-qsmjn Total loading time: 0 Render date: 2024-04-25T04:44:26.578Z Has data issue: false hasContentIssue false
  • English
  • Français

An unfortunate case of Pendred syndrome

Published online by Cambridge University Press:  12 July 2011

A Sanei-Moghaddam ,
T Wilson ,
S Kumar  and
R Gray
A Sanei-Moghaddam*
Affiliation:
Department of Otolaryngology, Addenbrooke's Hospital, Cambridge, UK
T Wilson
Affiliation:
Department of Otolaryngology, Addenbrooke's Hospital, Cambridge, UK
S Kumar
Affiliation:
Department of Otolaryngology, Addenbrooke's Hospital, Cambridge, UK
R Gray
Affiliation:
Department of Otolaryngology, Addenbrooke's Hospital, Cambridge, UK
*
Address for correspondence: Mr Ali Sanei-Moghaddam, 208 Park Road, Kingston upon Thames, Surrey KT2 5LS E-mail: al.sane@doctors.net.uk
Get access Rights & Permissions [Opens in a new window]

Abstract

Objective:

To report a patient with Pendred syndrome who developed life-threatening hypokalaemia as an unpredicted consequence of implant-induced imbalance and alcohol dependency, leading to multiple cardiac arrests.

Setting:

Addenbrooke's Hospital, Cambridge, UK.

Method:

Case report and review of the English language literature concerning Pendred syndrome and cochlear implantation in Pendred syndrome patients.

Result:

Pendred syndrome is an autosomal recessive disorder which mainly affects the inner ear, thyroid and kidneys. It accounts for 10 per cent of syndromic hearing loss cases. The majority of Pendred syndrome patients are referred to cochlear implant programmes for hearing assessment and therapy. They may also have an underlying metabolic abnormality which is not clinically apparent.

Conclusion:

Providing cochlear implants to patients with Pendred syndrome demands extensive knowledge of this condition, in order to avoid potential morbidity.

Keywords

Thyroid GlandMyxoedemaCochlear ImplantationHearing Loss, VestibularAqueduct, Cochlear DiseasesSLC26A6 protein, Human
Type
Clinical Records
Information
The Journal of Laryngology & Otology , Volume 125 , Issue 9 , September 2011 , pp. 965 - 967
Copyright
Copyright © JLO (1984) Limited 2011

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

1Kopp, P, Pesce, L, Solis, SJ. Pendred syndrome and iodide transport in the thyroid. Trends Endocrinol Metab 2008;19:260–8CrossRefGoogle ScholarPubMed
2Cremers, W, Bolder, C, Admiraal, R, Everett, L, Joosten, F, van Hauwe, P et al. Progressive sensorineural hearing loss and a widened vestibular aqueduct in Pendred syndrome. Arch Otolaryngol Head Neck Surg 1998;124:501–5CrossRefGoogle Scholar
3Wangemann, P, Nakaya, K, Wu, T, Maganti, R, Itza, E, Sanneman, J et al. Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model. Am J Physiol Renal Physiol 2007;292:F1345–53CrossRefGoogle Scholar
4Royaux, I, Wall, S, Karniski, L, Everett, L, Suzuki, K, Knepper, M et al. Pendrin, encoded by the Pendred syndrome gene, resides in the apical region of renal intercalated cells and mediates bicarbonate secretion. Proc Natl Acad Sci U S A 2001;98:4221–6CrossRefGoogle ScholarPubMed
5Fauci, AS, Braunwald, E, Kasper, DL, Hauser, SL, Longo, DL, Jameson, JL et al. In: Anthony, S, Fauci, AS et al. , eds. Harrison's Principles of Internal Medicine, 17th edn.New York, London: McGraw-Hill Medical, 2008;part 2;section7;chapter 48;287–296Google Scholar