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

Orphanet Journal of Rare Diseases

Shang-Liang Wu¹  Hsiu-Lien Cheng²  Chii-Yuan Huang³  Yen-Fu Cheng⁴  Chien-Yu Hsueh⁵  Wei-Sheng Lin⁶  Dau-Ming Niu⁷  Chia-Feng Yang⁸  Chia-Chen Chang⁹ 

[1] Department of Medical Research, Taipei Veterans General Hospital, No. 201, Sec. 2, Shipai Rd., Beitou District, 11217, Taipei City, Taiwan;Department of Otolaryngology—Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, Taiwan;Department of Biomedical Engineering, National Yang Ming Chiao Tung University, Taipei, Taiwan;Department of Otolaryngology—Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, Taiwan;Faculty of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan;Department of Otolaryngology—Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, Taiwan;Faculty of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan;Department of Speech Language Pathology and Audiology, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan;Department of Medical Research, Taipei Veterans General Hospital, No. 201, Sec. 2, Shipai Rd., Beitou District, 11217, Taipei City, Taiwan;Institute of Brain Science, National Yang Ming Chiao Tung University, Taipei, Taiwan;Department of Otorhinolaryngology—Head and Neck Surgery, Taipei Veterans General Hospital Yuli Branch, Hualien County, Taiwan;Department of Otolaryngology—Head and Neck Surgery, Taipei Veterans General Hospital, Taipei, Taiwan;Faculty of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan;Institute of Brain Science, National Yang Ming Chiao Tung University, Taipei, Taiwan;Department of Pediatrics, Taipei Veterans General Hospital, No. 201, Sec. 2, Shipai Rd., Beitou District, 11217, Taipei City, Taiwan;Department of Pediatrics, Taipei Veterans General Hospital, No. 201, Sec. 2, Shipai Rd., Beitou District, 11217, Taipei City, Taiwan;Institute of Clinical Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan;Department of Pediatrics, Taipei Veterans General Hospital, No. 201, Sec. 2, Shipai Rd., Beitou District, 11217, Taipei City, Taiwan;School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan;Department of Speech Language Pathology and Audiology, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan;

关键词: Infantile-onset Pompe disease;    Enzyme-replacement therapy;    Hearing loss;    Congenital deafness;    Lysosomal storage disorder;    Glycogen storage disorder;   

DOI  :  10.1186/s13023-021-01817-1

来源: Springer

【 摘 要 】

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.

【 授权许可】

CC BY