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

• Auteurs principaux: Rink Nikki (Auteur), Bitzan Martin (Auteur), O'Gorman Gus (Auteur), Nagel Mato (Auteur), Torban Elena (Auteur), Goodyer Paul (Auteur)
• Format: Livre
• Publié: Hindawi Limited, 2012-01-01T00:00:00Z.
• Sujets: article
• Accès en ligne: 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...