Article
Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.
Human pathology - 1 Apr 2017
Estève Emmanuel, Krug Pauline, Hummel Aurélie, Arnoux Jean-Baptiste, Boyer Olivia, Brassier Anais, de Lonlay Pascale, Vuiblet Vincent, Gobin Stéphanie, Salomon Rémi, Piètrement Christine, Bonnefont Jean-Paul, Servais Aude, Galmiche Louise
Abstract excerpt
Lysinuric protein intolerance (LPI) is a rare autosomal recessive disease caused by mutations in the SLC7A7 gene encoding the light subunit of a cationic amino acid transporter. Symptoms mimic primary urea cycle defects but dysimmune symptoms are also described. Renal involvement in LPI was first described in the 1980s. In 2007, it appeared that it could concern as much as 75% of LPI patients and could lead to...
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