Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
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Cistinosi

2 articoli — 2007-2026

EL Casi indimenticabili
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...

RI Problemi non correnti
Sintomi comuni per malattie rare Un approccio generale del pediatra ai pazienti con malattie rare

G. Tornese, V. Declich, G. Ciana, F. Marchetti, E. Barbi

2007/4 — pag. 230-236

As a rule many patients with rare diseases report their symptoms at first to a paediatrician or to a general practitioner. These are considered “specialists” in the cure of common problems, but also “common” patients and “common” symptoms can hide ...

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Diagnosis, Differential (264) Early diagnosis (53) Delayed Diagnosis (49) Genetic Testing (43) Rare diseases (43) Diagnosi precoce (28) Malattie rare (21) Sintomi (15) Gaucher disease (13) Malattia di Gaucher (10) Rare disease (9) Malattia rara (9) Mucopolysaccharidosis I (7) Symptoms (7) Mucopolisaccaridosi (6) Corneal Diseases (4) Tubulopatia renale (3) Mucopolysaccharidoses (3) Cystinosis (3) Fanconi syndrome (3)