[Primary Toni-Debré-Fanconi syndrome]

A case of primary de Toni-Debré-Fanconi syndrome with hypercalciuria and urinary calculosis was reported and the relationships between congenital and acquired de Toni-Debré-Fanconi syndrome are discussed. The dysmorphic, facial features of primary de Toni-Debré-Fanconi are particularly outlined and common, genetic basis supposed. The new studies about the tubular defect for aminoaciduria, phosphaturia and glycosuria are reported and discussed. For the de Toni-Debré-Fanconi syndrome primary and on genetic basis, the name "de Toni-Debré-Fanconi disease" is appropriate.