Article
A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease.
Journal of the American Society of Nephrology : JASN - 1 Jun 2017
Tchernitchko Dimitri, Tavernier Quentin, Lamoril Jérôme, Schmitt Caroline, Talbi Neila, Lyoumi Said, Robreau Anne-Marie, Karim Zoubida, Gouya Laurent, Thervet Eric, Karras Alexandre, Puy Hervé, Pallet Nicolas
Abstract excerpt
CKD occurs in most patients with acute intermittent porphyria (AIP). During AIP, δ-aminolevulinic acid (ALA) accumulates and promotes tubular cell death and tubulointerstitial damage. The human peptide transporter 2 (PEPT2) expressed by proximal tubular cells mediates the reabsorption of ALA, and variants of PEPT2 have different affinities for ALA. We tested the hypothesis that PEPT2 genotypes affect the severity...
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