Abstract
BackgroundStudies suggest that enzyme-replacement therapy (ERT) is crucial to the survival of patients with infantile-onset Pompe disease (IOPD). Hearing impairment (HI) is one of the clinical sequelae observed in long-term survivors. However, the benefits of early ERT for hearing outcomes have not yet been reported. This study aimed to investigate the impact of early ERT on IOPD patients.MethodsThis retrospective longitudinal study recruited IOPD patients who were referred by newborn screening for confirmatory diagnosis based on our rapid diagnostic criteria and received early ERT treatment between January 1, 2010, and January 31, 2018. The hearing test battery included a tympanogram, otoacoustic emission, auditory brainstem evoked response (ABR), pure-tone audiometry or conditioned play audiometry.ResultsNineteen patients with IOPD were identified, 6 of whom had hearing impairment (HI); 1 had conductive HI, 2 had sensorineural HI (one had bilateral mild HI and one had mild HI in a single ear) and 1 had moderate mixed-type HI. Two patients failed the newborn screening test and had mild HI in the ABR. The mean age of the initial time to ERT was 11.05 ± 4.31 days, and the HI rate was 31.6% (6/19).ConclusionOur study is the largest cohort to show the characteristic hearing outcomes of IOPD patients after ERT. Early ERT within 2 weeks after birth may contribute to better hearing outcomes. Clinicians should be vigilant in testing for the hearing issues associated with IOPD and should intervene early if any HI is detected.
Highlights
Pompe disease, which is known as glycogen storage disorder type II or acid maltase deficiency, is an autosomal recessive lysosomal storage disorder that is caused by a deficiency of the lysosomal enzyme acid
All the patients except one underwent newborn hearing screening at birth; sixteen patients were recorded as having normal values for the hearing screenings, two patients had hearing impairment, and one patient was not screened for hearing
At the most recent assessment, pure-tone audiometry (PTA) or conditioned behavioral audiometry showed that 1 child had a mild unilateral hearing impairment (33 dB) and 1 had a moderate mixed-type hearing impairment according to the American Speech-Language-Hearing Association (ASHA) hearing classification system
Summary
Pompe disease, which is known as glycogen storage disorder type II or acid maltase deficiency, is an autosomal recessive lysosomal storage disorder that is caused by a deficiency of the lysosomal enzyme acidPompe disease leads to the progressive accumulation of glycogen in specific organs and tissues, especially muscular (skeletal, cardiac and smooth muscles) and nervous tissues, causing abnormal motor and neural functions, including hearing loss. The presentation of glycogen storage in the organ of Corti in a knockout mouse model of Pompe disease, including in the inner and outer hair cells, Hsueh et al Orphanet J Rare Dis (2021) 16:348 the supporting cells, the stria vascularis, and the spiral ganglion neurons, suggests that this hearing impairment may be related to a cochlear pathology [11, 12]. This disease shows an extremely wide spectrum of symptom severity and is usually classified into three categories according to the time of onset: infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD), and in between, non-classical infantile-onset Pompe disease [13, 14]. This study aimed to investigate the impact of early ERT on IOPD patients
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