1例EYA1基因变异所致鳃-耳-肾综合征患儿的6年诊治及随访报告

doi:10.12372/jcp.2026.25e1641

Abstract

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

CLC Number:

HAN Yanan, GE Lanlan, CUI Jieyuan. A case report of branchio-oto-renal syndrome caused by EYA1 gene variant with a 6-year follow-up[J].Journal of Clinical Pediatrics, 2026, 44(8): 721-726.

Figures/Tables 4

Figure 1

Table 1

Figure 2

Table 2

Timeline of disease course and clinical management for the patient"

时间	临床表现、主要检查及治疗方案
2019年7月	间断发热、发现肾功能异常。查血常规：Hb70 g·L^-1，肌酐：326 μmol·L^-1，泌尿系超声：双肾小，基因结果：EYA1基因有1个杂合突变，c.986T>A。诊断CKD5、BORS，给予慢性肾脏病一体化治疗。
2021年12月	面色苍黄，全身皮肤干痒。查血常规：Hb55 g·L^-1，肌酐：637 μmol·L^-1。给予悬浮红细胞2U静点纠正贫血，病情好转出院，拒绝腹膜透析治疗。
2022年3月	患儿食欲差，间断恶心、呕吐。查血常规：Hb65 g·L^-1，肌酐：900 μmol·L^-1，电解质：钾4.03 mmol·L^-1、钠124.7 mmol·L^-1、离子钙0.99 mmol·L^-1、碳酸氢盐8.9 mmol·L^-1，血清蛋白：总蛋白64.6 g·L^-1、前白蛋白295 mg·L^-1、血白蛋白42.5 g·L^-1，维生素D 13.2 ng·mL^-1，甲状旁腺激素2 860 pg·mL^-1，给予纠酸、纠正贫血、营养指导等治疗，病情稳定后行腹膜透析置管术，术后开始持续性非卧床腹膜透析及慢性肾脏病一体化治疗。
2023年3月	患儿为行腹膜平衡试验入院。查血常规：Hb77 g·L^-1，肌酐：726 μmol·L^-1，电解质：钙1.06 mmol·L^-1、碳酸氢盐16.6 mmol·L^-1，血清蛋白：总蛋白57 g·L^-1、前白蛋白346 mg·L^-1、血白蛋白34 g·L^-1，腹透液常规及生化均正常。心脏超声结构及血流未见明显异常。每周腹膜透析KT/V1.636，TCcr=54.517
2024年10月	患儿发热伴腹透液浑浊1天。查血常规：WBC 12.36×10⁹·L^-1、NEU 11.34×10⁹·L^-1、Hb 87 g·L^-1；肌酐：827 μmol·L^-1；电解质大致正常，碳酸氢盐14.6 mmol·L^-1；血清蛋白：总蛋白69.6 g·L^-1、前白蛋白517 mg·L^-1、血白蛋白40.2 g·L^-1；腹透液常规：多个核细胞324×10⁶·L^-1，单个核4×10⁶·L^-1。诊断为腹膜炎，给予腹腔内注入含头孢他啶及头孢唑林的腹膜透析液进行抗感染治疗。
2025年10月	患儿无不适，为评估病情，患儿无水肿及高血压，每日超滤量波动在300~400 mL。查血常规：Hb 96 g·L^-1，血肌酐900 μmol·L^-1；血清蛋白：总蛋白55 g·L^-1、前白蛋白374 mg·L^-1、血白蛋白35 g·L^-1；电解质：钠136.3 mmol·L^-1、钾4.42 mmol·L^-1、离子钙1.18 mmol·L^-1、碳酸氢盐24.5 mmol·L^-1；维生素D 26.5 ng·mL^-1，甲状旁腺激素266 pg·mL^-1。STAMP筛查量表评分6分，中风险。心脏超声结构及血流未见明显异常。继续腹膜透析治疗。

Table 2

References 24

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	气导/dB	骨导/dB	声导抗	耳声发射
右耳	55	40	A	未引出
左耳	70	50	A	未引出

A case report of branchio-oto-renal syndrome caused by EYA1 gene variant with a 6-year follow-up

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