Open AccessBranchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism
Author(s) -
Jane David,
Preeti Shanbag
Publication year - 2017
Publication title -
saudi journal of kidney diseases and transplantation/našrat amraḍ wa zira'aẗ al-kulaẗ
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.268
H-Index - 30
eISSN - 2320-3838
pISSN - 1319-2442
DOI - 10.4103/1319-2442.215129
Subject(s) - medicine , pediatrics
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