Searchable abstracts of presentations at key conferences in endocrinology

ea0028p186 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2012

Mutations of the Chloride/Proton Antiporter, CLC-5, lead to Impaired Endosomal Acidification in Human Proximal Tubule Epithelial Cell-lines

Gorvin Caroline , Wilmer Martijn , Piret Sian , Harding Brian , Lippiat Jonathan , O'Hare Michael , Jat Parmjit , Wrong Oliver , van den Heuvel Lambertus , Levtchenko Elena , Thakker Rajesh

Dent’s disease is a renal proximal tubular disorder characterised by low-molecular-weight proteinuria, glycosuria, hypercalciuria, phosphaturia, nephrolithiasis and abnormal urinary loss of other proteins which include insulin, parathyroid hormone (PTH) and vitamin D-binding protein, due to defective receptor-mediated endocytosis (RME). Mutations in CLC-5 cause Dent’s disease-1 whilst mutations in OCRL1 cause Dent’s disease-2 and the oculocerebrorenal syndrome o...