- 期刊
鰓耳腎發育不良症候群－病例報告
Branchio-Oto-Renal Dysplasia - Case Report
摘要
鰓耳腎發育不良(branchio-oto-renal dysplasia)症候群，簡稱為BOR症候群，是併有鰓原衍生器官、內耳及腎臟發育異常的症候群，為體染色體顯性基因遺傳的先天性畸型。診斷上有5點特徵：1)耳前瘻管，2)耳郭異常，3)傳音性、感音性或混合性聽力障礙，4)側頸部鰓瘻或囊腫，5)腎臟異常。有些會合併鼻淚管閉鎖、小下巴或面神經麻痺。雖然是顯性基因遺傳，但在整個家族中只有部分成員會發生，且出現的表徵在同一人身上不必全具備。我們經歷一名21歲女性患者，具備了診斷上的5樣特徵，卻一直不知道。此症候群因有聽力障礙及腎臟異常的潛在嚴重性，早期診斷是有必要的。
並列摘要
Branchio-oto-renal dysplasia or BOR syndrome is an autosomal dominant hereditary disease with high penetrance and variable expression. Its cardinal signs consist of 1) preauricular pits; 2) auricular deformities; 3) hearing loss of conductive, sensorineural or mixed type; 4)lateral cervical sinus, cyst or fistula; 5) renal malformations. Some patients may have facial palsy, nasolacrimal duct stenosis or other anomalies. A 21 year-old girl presented with bilateral preauricular pits, cup-ear deformity on the left, auricular appendage on the right tragus, sensorineural hearing loss of 29 dB on the right, mixed hearing loss of 59 dB on the left (A-B gap of 3 dB), and renal hypoplasia on the right. Her father had an auricular pit on the left. Her mother and brother were normal. Her renal function was normal. We believe this to be a case of BOR syndrome. A high incidence of preauricular fistula, about 4.3%, had been found in Taiwan, but BOR syndrome has not been reported. Due to the potential seriousness resulting from the renal and aural malformations, early recognition of this syndrome is important.