Abstract
Branchio-oto-renal (BOR) syndrome is a rare autosomal dominant disorder that is characterized by preauricular pits, branchial fistula, branchial cyst, hearing impairment, and kidney anomalies. Hearing impairment is the single most common feature of BOR syndrome, affecting 89% of patients. Preauricular pits (77%), kidney anomalies (66%), branchial fistula (63%), external auditory canal anomalies (41%) are also common. For most patients, BOR syndrome does not affect life expectancy. The major life-threatening feature of this condition is kidney dysfunction, which occurs with about 6% of kidney anomalies. Therefore, once BOR syndrome is recognized in a patient, careful evaluation to detect renal anomalies and treatment of any kidney involvement are necessary. No case reports of BOR syndrome involving adult-onset end-stage kidney disease have been published in the Korean medical literature. We report a case of end-stage kidney disease in a 19-year-old male patient with BOR syndrome, together with a review of the pertinent literature.
BOR 증후군 환자는 일반적으로 평균 수명과 차이 없으나 신기능이 감소되어 다양한 합병증이 발생하고 수명이 단축되므로, 본 증례처럼 청력 소실, 외이 기형 등으로 BOR 증후군이 의심된다면 혈액 검사, 요 검사 및 영상 검사 등을 통하여 콩팥 이상을 확인하는 것이 필요하다.
