NDT Advance Access published online on January 5, 2007
Nephrology Dialysis Transplantation, doi:10.1093/ndt/gfl662
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© The Author [2007]. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
Immunohistochemical comparison of a case of inherited distal renal tubular acidosis (with a unique AE1 mutation) with an acquired case secondary to autoimmune disease
1Centre for Nephrology and Department of Physiology, Royal Free and University College Medical School, University College London, Rowland Hill Street, London NW3 2PF and 2Department of Biochemistry, School of Medical Sciences, University Walk, University of Bristol, Bristol BS8 1TD, UK, 3Institute of Physiology and Center for Integrative Human Physiology, University of Zurich, Winterthurerstrasse 190, CH-8057 Zurich, Switzerland and 4Department of Nephrology, University Hospital of Nice, 06000 Nice, France
Correspondence and offprint requests to: Dr S.B. Walsh, Department of Physiology, Royal Free and University College Medical School, Rowland Hill Street, London, UK. Email: s.walsh@medsch.ucl.ac.uk
Keywords: AE1; autoimmune disease; H+-ATPase; renal biopsy; renal tubular acidosis; Sjögren's syndrome; SLC4A1
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Introduction |
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Distal renal tubular acidosis (dRTA) is a defect in urinary acidification characterized by an inability to acidify the urine to (conventionally) pH <5.5, even in the presence of systemic acidaemia; it is often associated with nephrocalcinosis, recurrent renal calculi and reduced bone mineral density. The underlying causes of this syndrome are several: it may be inherited or secondary to other conditions, such as autoimmune disease (notably Sjögren's syndrome), drug therapy or nephrocalcinosis itself [1].
Inherited dRTA can be recessive or autosomal dominant: the autosomal dominant form is invariably (and the recessive form occasionally) associated with mutations in the gene SLC4A1, which encodes for the membrane protein Anion Exchanger 1 (AE1). This transport protein in the kidney is expressed on the basolateral membrane of 
-intercalated cells, where it plays a key role in linking apical H+-ATPase-mediated proton secretion to basolateral bicarbonate efflux; ultimately controlling net urinary acidification
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Cases |
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Case 1, primary dRTA (S613F AE1 mutation)
Case 2, autoimmune dRTA
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Methods |
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Results |
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Light microscopy
Case 1
Case 2
Immunohistochemistry
Control tissue
Case 1
Case 2
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Discussion |
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