Jennifer R Charlton, Weizhen Tan, Ghaleb Daouk, Lisa Teot, Seymour Rosen, Kevin M Bennett, Aleksandra Cwiek, Sejin Nam, Francesco Emma, François Jouret, João Paulo Oliveira, Lisbeth Tranebjærg, Carina Frykholm, Shrikant Mane, Friedhelm Hildebrandt, Tarak Srivastava, Tina Storm, Erik Ilsø Christensen, Rikke Nielsen
Pathogenic variants in the LRP2 gene, encoding the multiligand receptor megalin, cause a rare autosomal recessive syndrome: Donnai-Barrow/Facio-Oculo-Acoustico-Renal (DB/FOAR) syndrome. Because of the rarity of the syndrome, the long-term consequences of the tubulopathy on human renal health have been difficult to ascertain, and the human clinical condition has hitherto been characterized as a benign tubular condition with asymptomatic low-molecular-weight proteinuria. We investigated renal function and morphology in a murine model of DB/FOAR syndrome and in patients with DB/FOAR...
December 1, 2020: American Journal of Physiology. Renal Physiology