Long-term auditory monitoring in children with Alport syndrome based on different degrees of renal injury.
10.13201/j.issn.2096-7993.2024.01.007
- Author:
Lining GUO
1
;
Wei LIU
1
;
Min CHEN
1
;
Jiatong XU
2
;
Ning MA
1
;
Xiao ZHANG
1
;
Qingchuan DUAN
1
;
Shanshan LIU
1
;
Xiaoxu WANG
1
;
Junsong ZHEN
1
;
Xin NI
1
;
Jie ZHANG
1
Author Information
1. Department of Otorhinolaryngology Head and Neck Surgery，Beijing Children's Hospital，Capital Medical University，National Center for Children's Health，Beijing 100045，China.
2. Department of Pathology，Beijing Children's Hospital，Capital Medical University.
- Publication Type:Journal Article
- Keywords:
alport syndrome;
children;
hearing changes;
long-term monitoring
- MeSH:
Male;
Child;
Female;
Humans;
Nephritis, Hereditary/pathology*;
Retrospective Studies;
Kidney;
Deafness;
Hearing Loss/genetics*;
Kidney Failure, Chronic/pathology*;
Mutation
- From:
Journal of Clinical Otorhinolaryngology Head and Neck Surgery
2024;38(1):44-49
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate long-term auditory changes and characteristics of Alport syndrome（AS） patients with different degrees of renal injury. Methods:Retrospectively analyzing clinical data of patients diagnosed AS from January 2007 to September 2022, including renal pathology, genetic detection and hearing examination. A long-term follow-up focusing on hearing and renal function was conducted. Results:This study included 70 AS patients, of which 33（25 males, 8 females, aged 3.4-27.8 years） were followed up, resulting in a loss rate of 52.9%.The follow-up period ranged from 1.1to 15.8 years, with 16 patients followed-up for over 10 years. During the follow-up, 10 patients presenting with hearing abnormalities at the time of diagnosis of AS had progressive hearing loss, and 3 patients with new hearing abnormalities were followed up, which appeared at 5-6 years of disease course. All of which were sensorineural deafness. While only 3 patients with hearing abnormalities among 13 patients received hearing aid intervention. Of these patients,7 developed end-stage renal disease（ESRD）, predominantly males （6/7）. The rate of long-term hearing loss was significantly different between ESRD group and non-ESRD group（P=0.013）. There was no correlation between the progression of renal disease and long-term hearing level（P>0.05）. kidney biopsies from 28 patients revealed varying degrees of podocyte lesion and uneven thickness of basement membrane. The severity of podocyte lesion was correlated with the rate of long-term hearing loss（P=0.048）, and there was no correlation with the severity of hearing loss（P>0.05）. Among 11 cases, theCOL4A5mutationwas most common （8 out of 11）, but there was no significant correlation between the mutation type and hearing phenotype（P>0.05）. Conclusion:AS patients exhibit progressive hearing loss with significant heterogeneity over the long-term.. THearing loss is more likely to occur 5-6 years into the disease course. Hearing abnormalities are closely related to renal disease status, kidney tissue pathology, and gene mutations, emphasizing the need for vigilant long-term hearing follow-up and early intervention.
