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- W2912586435 abstract "Les tubulopathies congénitales rassemblent un assez grand nombre d’entités ayant en commun un dysfonctionnement tubulaire rénal proximal et/ou distal généralement traduit par un trouble de la réabsorption d’un ou plusieurs éléments. Au cours des dernières années, la base moléculaire d’un nombre grandissant de ces entités a pu être identifiée, sous la forme d’un ou plusieurs transporteurs ou canaux dont les mutations sont en cause. On trouvera dans ce chapitre une mise au point à ce sujet sur la glycosurie rénale, la cystinurie-lysinurie, le syndrome de Bartter et de Gitelman, les acidoses tubulaires, les pseudohypoaldostéronismes, le syndrome de Liddle, ainsi que sur la cystinose, les autres causes de syndrome de Fanconi d’origine génétique, et le syndrome de Lowe. 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." @default.
- W2912586435 created "2019-02-21" @default.
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- W2912586435 date "2004-02-01" @default.
- W2912586435 modified "2023-09-26" @default.
- W2912586435 title "Tubulopathies congénitales" @default.
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- W2912586435 doi "https://doi.org/10.1016/j.emcped.2003.06.005" @default.
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