Long-term auditory monitoring in children with Alport syndrome based on different degrees of renal injury
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 diag-nosed AS from January 2007 to September 2022,including renal pathology,genetic detection and hearing exami-nation.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 pro-gressive 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 abnormali-ties 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 le-sion 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).A-mong 11 cases,theCOL4A5 mutationwas most common(8 out of 11),but there was no significant correlation be-tween 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.
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