Literature DB >> 21745434

An unfortunate case of Pendred syndrome.

A Sanei-Moghaddam1, T Wilson, S Kumar, R Gray.   

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.

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Year:  2011        PMID: 21745434     DOI: 10.1017/S0022215111001630

Source DB:  PubMed          Journal:  J Laryngol Otol        ISSN: 0022-2151            Impact factor:   1.469


  5 in total

1.  Outcomes of Cochlear Implantation in Patients with Pendred syndrome: A Systematic Review and Narrative Synthesis.

Authors:  Kirsty Biggs; Amy Lovett; Chris Metcalfe; Jameel Muzaffar; Peter Monksfield; Manohar Bance
Journal:  J Int Adv Otol       Date:  2020-12       Impact factor: 1.017

2.  Pendrin-null mice develop severe hypokalemia following dietary Na+ and K+ restriction: role of ENaC.

Authors:  Truyen D Pham; Anthony J Elengickal; Jill W Verlander; Lama Al-Qusairi; Chao Chen; Delaney C Abood; Spencer A King; Johannes Loffing; Paul A Welling; Susan M Wall
Journal:  Am J Physiol Renal Physiol       Date:  2022-02-28

Review 3.  Regulation of Blood Pressure and Salt Balance By Pendrin-Positive Intercalated Cells: Donald Seldin Lecture 2020.

Authors:  Susan M Wall
Journal:  Hypertension       Date:  2022-02-03       Impact factor: 10.190

4.  SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report.

Authors:  Ya-Ting Lu; Lin Wang; Le-Le Hou; Ping-Ping Zheng; Qian Xu; Da-Tong Deng
Journal:  Medicine (Baltimore)       Date:  2022-09-02       Impact factor: 1.817

5.  Mutations in transcription factor CP2-like 1 may cause a novel syndrome with distal renal tubulopathy in humans.

Authors:  Verena Klämbt; Max Werth; Ana C Onuchic-Whitford; Maike Getwan; Thomas M Kitzler; Florian Buerger; Youying Mao; Konstantin Deutsch; Nina Mann; Amar J Majmundar; Michael M Kaminski; Tian Shen; Kai M Schmidt-Ott; Mohamed Shalaby; Sherif El Desoky; Jameela A Kari; Shirlee Shril; Soeren S Lienkamp; Jonathan Barasch; Friedhelm Hildebrandt
Journal:  Nephrol Dial Transplant       Date:  2021-01-25       Impact factor: 7.186

  5 in total

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