대한내과학회지: 제 93 권 제 4 호 2018 https://doi.org/10.3904/kjm.2018.93.4.398 - 398 - Received: 2017. 10. 25 Revised: 2018. 1. 17 Accepted: 2018. 3. 14 Correspondence to Inwhee Park, M.D., Ph.D. Department of Nephrology, Ajou University School of Medicine, 164 Worldcup-ro, Yeongtong-gu, Suwon 16499, Korea Tel: +82-31-219-5131, Fax: +82-31-219-5987, E-mail: inwhee@aumc.ac.kr Copyright ⓒ 2018 The Korean Association of Internal Medicine This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted noncommercial use, distribution, and reproduction in any medium, provided the original work is properly cited. 아가미-귀-콩팥증후군 환자에서의 신부전 증례 아주대학교 의과대학 1 신장내과학교실, 2 학교실 김지원 1 ㆍ이선홍 1 ㆍ임현이 2 ㆍ정종철 1 ㆍ신규태 1 ㆍ김흥수 1 ㆍ박인휘 1 Renal Failure with Branchio-Oto-Renal Syndrome Ji Won Kim 1 , Sunhong Lee 1 , Hyun Ee Yim 2 , Jong Cheol Jeong 1 , Gyu-Tae Shin 1 , Heungsoo Kim 1 , and Inwhee Park 1 Departments of 1 Nephrology, 2 Pathology, Ajou University School of Medicine, Suwon, Korea 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-threat- ening feature of this condition is kidney dysfunction, which occurs with about 6% of kidney anomalies. Therefore, once BOR syn- drome 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. (Korean J Med 2018;93:398-403) Keywords: Branchio-oto-renal (BOR) syndrome; Hearing loss; Kidney failure 서 론 아가-귀-콩팥(branchio-oto-renal, BOR)증후군은 전이개 누공(preauricular pits), 새열누공(brachial fistula), 새열낭종 (brachial cyst), 청력 소실, 콩팥 이상을 특징으로 하는 선천성 질환으로 상염색체가 우성 유전되고 있다. 생 빈도는 신생 아 40,000 중 1의 빈도로 추정하고 있으 남성과 여성 에게 같은 비율로 나타나고 있고 심한 청력 장애 아동의 2-3%에서 BOR 증후군이 견되고 있다. 임상 증상 중 특징 적인 5 가지는 아가 결손(brachial defect), 청력 소실, 전이개 누공, 이개(pinna) 기형, 콩팥 기형이, 흔히 관찰되는 임상 증상을 빈도순으로  , 청력 소실이 89% 로 가장 고 다음 으로 전이개누공 77%, 콩팥 기형 66%, 아가 결손 63%의 생을 이고 이외에 외이의 기형이 41%로 고되고 있