Novel <i>ATP6V1B1</i> and <i>ATP6V0A4</i> mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

H. Stover, Elizabeth; J Borthwick, K; Bavalia, C; Eady, N; M Fritz, D; Rungroj, N; B S Giersch, A; C Morton, C; R Axon, P; Akil, I; A Al-Sabban, E; M Baguley, D; Bianca, S; Bakkaloglu, A; Bircan, Z; Chauveau, D; Clermont, M-J; Guala, A; A Hulton, S; Kroes, H; Li Volti, G; Mir, S; Mocan, H; Nayir, A; Ozen, S; Rodriguez Soriano, J; A Sanjad, S; Tasic, V; M Taylor, C; Topaloglu, R; N Smith, A; E Karet, F

doi:10.1136/jmg.39.11.796

Public

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss

Published in Journal of Medical Genetics • Nov 1, 2002

Authors:

Elizabeth H. Stover

K J Borthwick

C Bavalia

Abstract

Autosomal recessive distal renal tubular acidosis (rdRTA) is characterised by severe hyperchloraemic metabolic acidosis in childhood, hypokalaemia, decreased urinary calcium solubility, and impaired bone physiology and growth. Two types of rdRTA have been differentiated by the presence or absence of...

Subject

Distal renal tubular acidosis

Hearing loss

Renal tubular acidosis

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