title: [Primary Toni-Debré-Fanconi syndrome].
abstract: 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.
authors: Cattedra di Pediatria, Università di Genova, Italia.
authors: A
authors: A
authors: Berio
mesh_terms: D002648:Child; D005198:Fanconi Syndrome / Q000378:metabolism / Q000503:physiopathology / Q000628:therapy; D005500:Follow-Up Studies; D006801:Humans; D008297:Male
vernacular_title: La sindrome di de Toni-Debré-Fanconi primitiva.