Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.
BACKGROUND
Studies 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.


METHODS
This 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.


RESULTS
Nineteen 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).


CONCLUSION
Our 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.
['Hsueh|Chien-Yu|CY|', 'Huang|Chii-Yuan|CY|', 'Yang|Chia-Feng|CF|', 'Chang|Chia-Chen|CC|', 'Lin|Wei-Sheng|WS|', 'Cheng|Hsiu-Lien|HL|', 'Wu|Shang-Liang|SL|', 'Cheng|Yen-Fu|YF|0000-0003-1995-5854', 'Niu|Dau-Ming|DM|']
D056947:Enzyme Replacement Therapy D006009:Glycogen Storage Disease Type II D006309:Hearing D006320:Hearing Tests D006801:Humans D007231:Infant, Newborn D008137:Longitudinal Studies D012189:Retrospective Studies D000520:alpha-Glucosidases
Infantile-onset Pompe disease Enzyme-replacement therapy Congenital deafness Glycogen storage disorder Hearing loss Lysosomal storage disorder