Aprile 2007 - Volume XXVI - numero 4

Medico e Bambino


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

Indirizzo per corrispondenza: jackpatch80@hotmail.com

COMMON SYMPTOMS FOR RARE DISEASES

Key words: Rare disease, Symptoms, Gaucher disease, Cystinosis, Hurler syndrome

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 rare diseases, and therefore the primary care services have the responsibility to recognize and to manage these patients as well. A delayed diagnosis can sometimes compromise seriously the prognosis of the disease, while a timely diagnosis could influence positively the life of the patient. Therefore, even in presence of common symptoms, a paediatrician should be alerted to identify possible “red flags” in order to suspect and consider a rare disease in the differential diagnosis.

Vuoi citare questo contributo?

G. Tornese, V. Declich, G. Ciana, F. Marchetti, E. Barbi Sintomi comuni per malattie rare
Un approccio generale del pediatra ai pazienti con malattie rare. Medico e Bambino 2007;26(4):230-236 https://www.medicoebambino.com/_rare_malattie_cystinosis_Gaucher_pick_Hurler


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