Anomalies héréditaires des transports tubulaires en dehors du diabète insipide

Abstract

These past years, many causes and mechanisms of inherited renal kidney diseases have been identified. The study of the mutations identified has improved our knowledge in renal tubule physiology. The identification of new proteins and the disruption of the genes encoding these proteins in mouse unravelled the cause of diseases described many years ago. The physiopathology of most tubular disorders is now known. The accurate analysis of patients' phenotype, based on the knowledge in renal physiology, allowed identifying the tubular part(s) involved in the abnormalities observed. We briefly summarise the main functions of each tubule segment, and describe the inherited disorders currently identified together with their pathophysiology. We describe the dysfunctions of proximal tubule (glycosuria, renal phosphate leak, aminoaciduria, tubular acidosis, urate excretion), thick ascending limb (Bartter's syndrome, hypercalciuria, hypermagnesuria…), distal tubule (Gitelman's syndrome, Gordon's syndrome…), collecting duct (distal tubular acidosis, salt wasting or retention syndrome…). Diabetes insipidus is not included.