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