FRONTIERS IN NEPHROLOGY Inherited Distal Renal Tubular Acidosis
نویسنده
چکیده
Renal acid-base balance may become deranged in a number of ways, some of which are the consequence of inherited disorders. Two main groups of distal renal acidopathies result either from a direct inability to secrete acid in the distal nephron (giving rise to type 1 renal tubular acidosis [RTA]) or as an inherited or functional consequence of hypoaldosteronism, leading to type 4 (hyperkalemic) RTA. In this review, I will discuss one category of the expanding class of inherited renal tubular transport disorders: the primary distal (type 1) RTAs. Though they are relatively rare in Western populations, they occur more commonly in areas of the world where rates of parental consanguinity are high. This has facilitated genetic studies, and the insights gained in understanding their molecular bases have added significantly to our elucidation of normal human physiology. The hope is that these findings may in the future prove relevant to the understanding and treatment of more common disorders and provide new therapeutic avenues.
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Centre for Nephrology and Department of Physiology, Royal Free and University College Medical School, University College London, Rowland Hill Street, London NW3 2PF and Department of Biochemistry, School of Medical Sciences, University Walk, University of Bristol, Bristol BS8 1TD, UK, Institute of Physiology and Center for Integrative Human Physiology, University of Zurich, Winterthurerstrasse ...
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