先天性心脏病并蛋白尿婴儿 1 例报告。

An infant with congenital heart defects and proteinuria: a case report.

机构信息

Department of Nephrology and Rheumatology, Department of Electrocardiogram, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, 450018, China.

Department of Hematology and Oncology, Henan Provincial Key Laboratory of Children's Genetics and Metabolic Diseases, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, No.33 Longhuwaihuan East Road, Zhengzhou, 450018, China.

出版信息

BMC Pediatr. 2022 Nov 4;22(1):636. doi: 10.1186/s12887-022-03705-4.

DOI:10.1186/s12887-022-03705-4

PMID:36333735

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9635197/

Abstract

BACKGROUND

Branchio-Oto-Renal (BOR) Syndrome is a rare autosomal disorder with a wide variety of clinical manifestations and a high degree of heterogeneity. Typical clinical manifestations of BOR syndrome include deafness, preauricular fistula, abnormal gill slits, and renal malformations. However, atypical phenotypes such as congenital hip dysplasia, congenital heart anomaly or facial nerve paresis are rare in BOR syndrome, and this might be easily misdiagnosed with other congenital disorders.

CASE PRESENTATION

We report a 5-month-old boy of BOR syndrome with "congenital heart defects and proteinuria" as clinical features. Initially, as this case mainly presented with symptoms of recurrent respiratory infections and was found to be with congenital heart disease and proteinuria at the local hospital, but he only was diagnosed with congenital heart disease combined with pulmonary infection and anti-infective and supportive treatment was given. Subsequently, during the physical examination at our hospital, left side preauricular pit and branchial fistulae on the right neck were found. Subsequent evaluation of auditory brainstem response and distortion product otoacoustic emission were revealed sensorineural hearing impairment. Results of renal ultrasonography showed small kidneys. Genetic analysis revealed a microdeletion at chromosome 8q13.2-q13.3 encompassing EYA1 gene, this patient was finally diagnosed with BOR syndrome. Then, this patient received transcatheter patent ductus arteriosus closure and hearing aid treatment. Proteinuria, renal function and hearing ability are monitoring by nephrologist and otologist. The patient is currently being followed up until 3 months after discharge and his condition is stable.

CONCLUSION

Careful physical examination, detailed history and the implementation of diagnostic laboratory tests can reduce the incidence of misdiagnosis. Genetic sequencing analysis of patients is a key guide to the differential diagnosis of BOR syndrome.

摘要

背景

Branchio-Oto-Renal（BOR）综合征是一种罕见的常染色体疾病，具有多种临床表现和高度的异质性。BOR 综合征的典型临床表现包括耳聋、耳前瘘管、异常鳃裂和肾脏畸形。然而，BOR 综合征中也存在先天性髋关节发育不良、先天性心脏异常或面神经瘫痪等非典型表型，这些表现可能容易与其他先天性疾病混淆而导致误诊。

病例介绍

我们报告了一例 5 月龄的 BOR 综合征患儿，其临床表现为“先天性心脏缺陷和蛋白尿”。最初，由于该病例主要表现为反复呼吸道感染的症状，在当地医院被诊断为先天性心脏病和蛋白尿，但仅被诊断为先天性心脏病合并肺部感染，并给予抗感染和支持治疗。随后，在我院体检时发现左侧耳前凹和右侧颈部鳃裂瘘。进一步评估听性脑干反应和畸变产物耳声发射显示感音神经性听力损失。肾脏超声检查结果显示双肾体积小。基因分析显示 8q13.2-q13.3 染色体微缺失，包含 EYA1 基因，该患者最终被诊断为 BOR 综合征。随后，该患者接受了经导管动脉导管未闭封堵术和助听器治疗。肾病学家和耳鼻喉科医生正在监测蛋白尿、肾功能和听力能力。目前该患者正在接受随访，出院后 3 个月情况稳定。