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

@article{Stover2002NovelAA,
  title={Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.},
  author={Elizabeth Stover and Katherine J Borthwick and C Bavalia and Nigel A J Eady and David M. Fritz and Nanyawan Rungroj and Anne B. S. Giersch and Cynthia C Morton and Patrick R. Axon and Ipek Ozunan Akil and Essam A. Al-Sabban and David M Baguley and Salvatore Bianca and Ayşın Bakkaloğlu and Zelal Ekinci Bircan and Dominique Chauveau and M-J Clermont and Andrea Guala and Sally A. Hulton and Hester Y. Kroes and Giovanni Li Volti and Shahnawaz Ahmad Mir and Hilal Mocan and Ahmet Nayir and Seza Ozen and Juan Rodr{\'i}guez Soriano and Sami A. Sanjad and Velibor B Tasic and Clare M. Taylor and Rezzan Topaloğlu and Anne N Smith and Fiona Eve Karet},
  journal={Journal of medical genetics},
  year={2002},
  volume={39 11},
  pages={
          796-803
        }
}
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 sensorineural hearing loss, but appear otherwise clinically similar. Recently, we identified mutations in genes encoding two different subunits of the renal alpha-intercalated cell's apical H… CONTINUE READING

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