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Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations

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Abstract

Mutations of the AE1 (SLC4A1, Anion-Exchanger 1) gene that codes for band 3, the renal and red cell anion exchanger, are responsible for many cases of familial distal renal tubular acidosis (dRTA). In Southeast Asia this disease is usually recessive, caused either by homozygosity of a single AE1 mutation or by compound heterozygosity of two different AE1 mutations. We describe two unrelated boys in Sarawak with dRTA associated with compound heterozygosity of AE1 mutations. Both had Southeast Asian ovalocytosis (SAO), a morphological abnormality of red cells caused by a deletion of band 3 residues 400–408. In addition, one boy had a DNA sequence abnormality of band 3 residue (G701D), which has been reported from elsewhere in Southeast Asia. The other boy had the novel sequence abnormality of band 3 (Q759H) and profound hemolytic anemia.

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Acknowledgements

We are grateful to the Association of Physicians of Great Britain and Ireland, the St Peter’s Trust, and the Wellcome Trust for financial assistance with this work, and to Professors Susan Povey and RJ Unwin for helpful discussions.

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Authors and Affiliations

  1. Department of Paediatrics and Child Health, Universiti Malaysia Sarawak, Kuching, Sarawak, Malaysia

    Keng E. Choo

  2. Galton Laboratory, Department of Biology, University College, London, UK

    Taija K. Nicoli & Andres Ruiz-Linares

  3. Department of Biochemistry, University of Bristol, Bristol, UK

    Lesley J. Bruce & Michael J. A. Tanner

  4. Royal Free and University College London School of Medicine, London, UK

    Oliver M. Wrong

  5. Department of Nephrology, Middlesex Hospital, Mortimer St., London, W1T 3AA, UK

    Oliver M. Wrong

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  1. Keng E. Choo
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  2. Taija K. Nicoli
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  3. Lesley J. Bruce
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  4. Michael J. A. Tanner
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  5. Andres Ruiz-Linares
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  6. Oliver M. Wrong
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Correspondence to Oliver M. Wrong.

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Choo, K.E., Nicoli, T.K., Bruce, L.J. et al. Recessive distal renal tubular acidosis in Sarawak caused by AE1 mutations. Pediatr Nephrol 21, 212–217 (2006). https://doi.org/10.1007/s00467-005-2061-z

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  • DOI: https://doi.org/10.1007/s00467-005-2061-z

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