Endocrine Abstracts

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...