Recent advances in understanding the clinical and genetic heterogeneity of Dent's disease.

Dent’s disease 1 (OMIM 300009) is an X-linked proximal tubulopathy [1] first described in 1964 [2], with Fanconi syndrome, a consistent renal abnormality, and low-molecular-weight proteinuria (LMWP) being almost always present. Nephrocalcinosis and renal stone formation occur more frequently in Dent’s disease 1 than in other forms of Fanconi syndrome. Various features of Dent’s disease 1 predominate in different ethnic groups, and have been noted in earlier reports, resulting in several syndrome names of phenotypically similar disorders. These were referred to as X-linked recessive hypophosphataemic rickets (XLRH), X-linked recessive nephrolithiasis (XRN) and familial idiopathic LMWP in Japanese patients (JILMWP), often referred to as Dent’s Japan disease [3,4]. All of these are now considered phenotypic variants of one unique entity, namely Dent’s disease 1 [5,6].