Hereditary kidney disease with auditory abnormalities: analysis of mutations and clinical phenotypes

Abstract

Clinical observations have indicated that multiple gene mutations can concurrently lead to both renal and auditory abnormalities. To explore the genetic basis of such conditions, this study first searched the PubMed database for relevant diseases and syndromes, followed by a literature review to identify representative diseases with high penetrance of both renal and auditory impairments. Building on this foundation, this review focuses on analyzing the genotype-phenotype correlations of eleven selected hereditary diseases and outlines their corresponding diagnostic and therapeutic strategies. Furthermore, to aid in clinical differential diagnosis, non-genetic factors that may cause renal and auditory dysfunction are also summarized. The findings of this study aim to deepen the understanding of these complex hereditary diseases and provide theoretical support for clinical diagnostic and treatment decisions.