David Jane Jackie, Shanbag Preeti
Division of Pediatric Nephrology, Lokmanya Tilak Municipal Medical College and General Hospital, Mumbai, Maharashtra, India.
Saudi J Kidney Dis Transpl. 2017 Sep-Oct;28(5):1165-1168. doi: 10.4103/1319-2442.215129.
Branchio-oto-renal (BOR) syndrome is an autosomal dominant, clinically heterogeneous disorder characterized by branchial arch anomalies, hearing impairment, and renal malformations. We report the case of a 10-year-old boy with BOR syndrome who presented with hyperkalemic hyperchloremic metabolic acidosis due to hyporeninemic hypoaldosteronism. The child also had mental retardation and spastic diplegia which have hitherto not been described in BOR syndrome.
鳃-耳-肾（BOR）综合征是一种常染色体显性遗传、临床异质性疾病，其特征为鳃弓异常、听力障碍和肾脏畸形。我们报告一例患有BOR综合征的10岁男孩，该患儿因低肾素性低醛固酮血症出现高钾性高氯性代谢性酸中毒。该患儿还存在智力发育迟缓及痉挛性双侧瘫，但此前在BOR综合征中尚未有过此类描述。
