Renal Failure with Branchio-Oto-Renal Syndrome.
10.3904/kjm.2018.93.4.398
- Author:
Ji Won KIM
1
;
Sunhong LEE
;
Hyun Ee YIM
;
Jong Cheol JEONG
;
Gyu Tae SHIN
;
Heungsoo KIM
;
Inwhee PARK
Author Information
1. Department of Nephrology, Ajou University School of Medicine, Suwon, Korea. inwhee@aumc.ac.kr
- Publication Type:Case Report
- Keywords:
Branchio-oto-renal (BOR) syndrome;
Hearing loss;
Kidney failure
- MeSH:
Branchio-Oto-Renal Syndrome*;
Branchioma;
Ear Canal;
Fistula;
Hearing Loss;
Humans;
Kidney;
Kidney Failure, Chronic;
Life Expectancy;
Male;
Renal Insufficiency*;
Young Adult
- From:Korean Journal of Medicine
2018;93(4):398-403
- CountryRepublic of Korea
- Language:Korean
-
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.
