Significant hearing loss in Fabry disease: Study of the Danish nationwide cohort prior to treatment.

ABSTRACT: BACKGROUND:Fabry disease (FD) is a lysosomal storage disorder resulting in systemic accumulation of globotriaosylceramide resulting in multi-organ dysfunction e.g. cerebral, cardiac, renal and audiologic complications. The audiologic involvement in FD has often been neglected; while not a lethal aspect of the disease, hearing loss can have a significantly negative impact on quality of life. OBJECTIVES:To investigate baseline hearing status of the Danish Fabry cohort prior to treatment, compared to sex- and age-expected hearing levels and correlating hearing to renal and cerebral findings. MATERIAL AND METHODS:Retrospective study of baseline hearing status of the Danish Fabry cohort (n = 83, 9-72 years). Air conduction and speech discrimination scores were assessed at 6 frequencies between

SUBMITTER: Yazdanfard PD 

PROVIDER: S-EPMC6897399 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature