Endolymphatic Sac Enlargement in a Girl with a Novel Mutation for Distal Renal Tubular Acidosis and Severe Deafness

• Main Authors: Rink Nikki (Author), Bitzan Martin (Author), O'Gorman Gus (Author), Nagel Mato (Author), Torban Elena (Author), Goodyer Paul (Author)
• Format: Book
• Published: Hindawi Limited, 2012-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Hereditary distal renal tubular acidosis (dRTA) is caused by mutations of genes encoding subunits of the H+-ATPase (ATP6V0A4 and ATP6V1B1) expressed in α-intercalated cells of the distal renal tubule and in the cochlea. We report on a 2-year-old girl with distal RTA and profound speech delay which w...