关键词: 鳃-耳-肾综合征, 终末期肾病, EYA1基因, 腹膜透析, 儿童

Abstract:

Branchio-oto-renal syndrome (BORS) is a rare autosomal dominant disorder caused by mutations in the EYA1 gene, characterized by auricular malformations, branchial cleft anomalies, and renal lesions. Early identification and long-term management are critical for optimizing clinical outcomes. This study presents a 6-year diagnosis, treatment, and follow-up of a pediatric patient with BORS to enhance clinical understanding of the condition. Retrospective analysis was conducted on the patient’s clinical data, audiometric evaluations, imaging findings, genetic test results, therapeutic interventions, and follow-up records. The female patient was born with congenital auricular malformations and a cervical branchial fistula. Hearing loss was detected in infancy, progressing to end-stage renal disease (ESRD) during the preschool period. Genetic analysis identified a de novo heterozygous nonsense mutation c.986T>A (p.L329X) in the EYA1 gene, which was confirmed to be absent in both parents via Sanger sequencing. Laparoscopic peritoneal dialysis catheter placement was performed 2 years and 8 months after diagnosis, followed by initiation of continuous peritoneal dialysis. Over a follow-up period of 6 years and 2 months, the patient maintained stable renal function without secondary hypertension or severe dialysis-related complications, and overall quality of life was improved. For children with BORS, emphasis should be placed on early renal function monitoring, and timely initiation of renal replacement therapy can improve prognosis. Peritoneal dialysis is a safe and effective treatment option for children with BORS complicated by ESRD. The EYA1 gene mutation c.986T>A (p.L329X) reported in this study is a novel nonsense mutation, which enriches the mutational spectrum of BORS-causing genes.

Key words: branchio-oto-renal syndrome, end-stage renal disease, EYA1 gene, peritoneal dialysis, child