Tubulopathies congénitales

Abstract

Congenital tubular defects include a number of distinct entities sharing the same basis of a proximal and/or distal renal tube dysfunction, generally characterised by a reabsorptive defect of one or several elements. During the last years, the molecular basis of an increasing number of these entities was identified as one or several carriers or channels the mutations of which are responsible. An update of this lysinuria, Bartter and Gitelman syndrome, tubular acidosis, pseudohypoaldosteronisms, Liddle syndrome, and also cystinosis, other causes of inherited Fanconi syndrome and Lowe syndrome.