L’indizio nel rene, la chiave negli occhi

Medico e Bambino - Pagine Elettroniche 2026

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Authors: Chiara Gulisano, Francesca Lugani, Elena De Benedetti, Decimo Silvio Chiarenza, Enrico Eugenio Verrina
DOI: 10.53126/mebxxixf041
Cited by: 0

Abstract

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 condition. The case illustrates diagnostic challenges in humanitarian crisis settings and the vital importance of prompt intervention.

Fields of Study & Subjects

Biomedical Research and Pathophysiology Metabolism and Genetic Disorders Glycogen Storage Diseases and Myoclonus

Publication details

Journal / source
Medico e Bambino - Pagine Elettroniche
Volume
29
Issue
2
Pages
41–41
Publication date
11 February 2026
Language
EN