Symposium on Membrane Transport in the Kidney

Kidney International (1976) 9, 149–171; doi:10.1038/ki.1976.18

Genetic aspects of renal tubular transport: Diversity and topology of carriers

Charles R Scriver1, Russell W Chesney1 and Roderick R McInnes1

1Medical Research Council Group in Genetics, deBelle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, Montreal, Quebec, Canada

Correspondence: Dr Charles R Scriver, Medical Research Council Group in Genetics, de Belle Laboratory for Biochemical Genetics, McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street, Montreal, Quebec, Canada H3H1P3.

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Abstract

Mutations which cause the inborn errors of membrane transport can provide information about the normal topology1 of renal transepithelial transport. In recent years various reviews of tubular transport [1–6] have appeared which discussed the interrelation between disease and net tubular reabsorption of organic solutes.2 Their emphasis was primarily on the functions which served solute transport and less on the diseases associated with the disturbance of transport. In this review we have taken the opportunity to describe, and to speculate on, the probable site in the tubular cell of the defect in transcellular movement of the solute in a number of inborn errors of tubular transport. We hope that the speculations will stimulate debate, formulation of hypotheses and further experimental evaluation to advance our knowledge. The table included in this paper provides a catalogue of the currently accepted inborn errors of tubular transport. It is these clinical "windows" which, through the expression of mutation, have revealed and helped to delineate an impressive array of specific transport functions in tubular membrane.

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