Fanconi Syndrome

L’indizio nel rene, la chiave negli occhi

Gulisano C, Lugani F, De Benedetti E, Chiarenza DS, Verrina EE

2026/2 — pag. 41-41 — DOI

A 20-month-old boy with severe growth failure and Fanconi syndrome was diagnosed with nephropathic cystinosis, confirmed by corneal deposits and CTNS gene analysis. Despite septic complications, cysteamine therapy successfully stabilised his conditio...

Il valproato tra terapia e tossicità tubulare: viaggio all'interno della sindrome di Fanconi

Ranieri A, Pietrolati G, Perre E, Pillon R, Alberici I, Pasini A

2026/1 — pag. 10-15 — DOI

Fanconi Syndrome (FS) is a proximal renal tubular dysfunction characterised by the urinary loss of normally reabsorbed substances. Although rare, it may occur as an iatrogenic complication of valproic acid (VPA) therapy in children. The paper reports...

Nefrocalcinosi e gene SLC34A1

M. Luzzati

2020/2 — pag. 39-39