文章摘要

以“腹痛、肾功能损害”为主诉的鳃-耳-肾综合征1例

作者: 1李卓颖, 2梅玫, 3申兵冰
1 武警重庆总队医院肾内科,重庆 400013
2 沙坪坝区人民医院肾内科,重庆 400020
3 陆军军医大学附属第一医院肾内科,重庆 430038
通讯: 申兵冰 Email: sbbiceme1234@sina.com
DOI: 10.3978/j.issn.2095-6959.2021.09.037
基金: 重庆市卫生与计划生育委员会、重庆市科学技术委员会、重庆市科卫联合医学科研项目(2018MSXM123)。

摘要

鳃-耳-肾(Branchio-Oto-Renal,BOR)综合征作为常染色体显性遗传类疾病,其主要临床特点为外耳、中耳、内耳畸形,并伴随传导神经性听力损失或感觉神经性听力损失,常伴肾发育不良。由于该病的罕见和异质性,该病常在除耳鼻喉外的临床科室导致诊治延误及缺陷患儿出生。本文报道1例以“腹痛、肾功能损害”为主诉收入肾脏科的中国BOR综合征少年患者及其亲属的临床资料和家族流行病学调查结果,并复习BOR综合征的病因、诊治及预后,为BOR综合征的早期防治提供参考。
关键词: 腹痛;Branchio-Oto-Renal综合征;基因诊断

Branchio-Oto-Renal syndrome with “abdominal pain and renal impairment” as the chief complaint: A case report

Authors: 1LI Zhuoying, 2MEI Mei, 3SHEN Bingbing
1 Department of Nephrology, Chongqing Armed Police Corps Hospital, Chongqing 400013, China
2 Department of Nephrology, Shapingba District People’s Hospital, Chongqing 400020, China
3 Department of Nephrology, First Affiliated Hospital of Military Medical University, Chongqing 430038, China

CorrespondingAuthor: SHEN Bingbing Email: sbbiceme1234@sina.com

DOI: 10.3978/j.issn.2095-6959.2021.09.037

Foundation: This work was supported by Union Joint Medical Research Project of Chongqing Health and Family Planning Commission, Chongqing Science and Technology Commission, Science and Health, China (2018MSXM123).

Abstract

As a rare autosomal dominant inheritance disease, Branchio-Oto-Renal (BOR) syndrome is characterized by malformations of the external, middle, and inner ears, accompanied by conductive hearing loss and sensorineural hearing loss, and often accompanied by renal dysplasia. In other clinical departments except for otolaryngology, due to the rarity and heterogeneity of the disease, it often leads to delayed diagnosis and treatment, and the birth of defective infants. This article reports a Chinese adolescent patient with BOR syndrome who was admitted to the Department of Nephrology, with abdominal pain and renal impairment as the chief complaint. The clinical data and family epidemiological findings of the patient’s relatives are also reported. The etiology, diagnosis, treatment and prognosis of BOR syndrome are reviewed in order to provide reference for the early prevention and treatment of BOR syndrome.
Keywords: abdominal pain; Branchio-Oto-Renal syndrome; genetic diagnosis