Charakterystyka niedosłuchu u dzieci z zespołem Pendreda oraz wyniki jego leczenia za pomocą implantów ślimakowych – przegląd piśmiennictwa

Introduction: Pendred syndrome is a genetically determined disorder inherited in an autosomal recessive pattern. It is estimated that approximately 10% of inherited hearing loss is caused by this syndrome. It is associated with abnormal pendrin’s structure, causing triad of symptoms; among which the main one is sensorineural hearing loss. Aim: The aim of this literature review is to present current knowledge on audiological features of hearing loss in children with Pendred syndrome and the efficacy of cochlear implantation in this group of patients. Materials and methods: To identify suitable literature, a search was performed using following databases of scientific articles: PubMed, Web of Science and Medline. Having used the combination of key words: ‘Pendred syndrome’, ‘children’, ‘cochlear implantation’ and analyzing articles in English and Polish which were consistent with the search criteria, 16 articles were found suitable for the review (11 about audiological characteristic of patients with Pendred syndrome and 5 articles about cochlear implantation). Results: In children with Pendred syndrome a sensorineural hearing loss with genetic basis is observed. In most patients the hearing loss is prelingual, but cases with periand postlignual hearing loss were also described. In some cases, the hearing loss might be progressive and/or of fluctuating nature, triggered by even minor head trauma. The hearing loss is mainly bilateral and symmetrical. An effective method of hearing loss treatment in children reporting lack of benefits from conventional hearing aids is cochlear implantation. Based on the current literature, cochlear implantation is an effective method of aural rehabilitation in this group of patients. Conclusions: Early diagnosis of Pendred syndrome and implementation of its effective treatment give pediatric patients opportunity to develop hearing and speech. Cochlear implantation seems to be the most effective method of rehabilitation in patients without benefits from conventional hearing aids, significantly improving quality and comfort of patients’ life.