Article
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.
Journal of medical genetics - 1 Nov 2002
Stover E H, Borthwick K J, Bavalia C, Eady N, Fritz D M, Rungroj N, Giersch A B S, Morton C C, Axon P R, Akil I, Al-Sabban E A, Baguley D M, Bianca S, Bakkaloglu A, Bircan Z, Chauveau D, Clermont M-J, Guala A, Hulton S A, Kroes H, Li Volti G, Mir S, Mocan H, Nayir A, Ozen S, Rodriguez Soriano J, Sanjad S A, Tasic V, Taylor C M, Topaloglu R, Smith A N, Karet F E
Abstract excerpt
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...
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