Medico e Bambino
2006
Marzo 2006
numero 3
FOCUS




Quello che un pediatra deve sapere sulla fibrosi cistica

GIUSEPPE MAGAZZÙ, MARIANGELA LOMBARDO, MARIA CRISTINA LUCANTO, CATERINA RUGGERI, CONCETTA SFERLAZZAS
UO di Fibrosi Cistica e Gastroenterologia Pediatrica, Università di Messina

indirizzo per corrispondenza:giuseppe.magazzu@unime.it

WHAT PRIMARY CARE PHYSICIANS MUST KNOW ABOUT CYSTIC FIBROSIS
Key words
Cystic fibrosis, Neonatal screening, Protocols of care, Primary care physician

Summary
The medical care of the patient with CF is ideally carried out with the joint efforts of the CF Center specialists and the patient’s primary care physician (PCP). The implementation of a nation-wide neonatal screening may represent a unique opportunity for an early care by both CF Centers and PCPs and for sharing protocols of care, which are summarized in the present article. CF Centers and scientific communities should understand the importance of improving PCPs knowledge and expertise on the needs of CF patients.


Vuoi citare questo contributo?
G. Magazzù e collaboratori. QUELLO CHE UN PEDIATRA DEVE SAPERE SULLA FIBROSI CISTICA. Medico e Bambino 2006;25:155-173 https://www.medicoebambino.com/?id=0603_155.pdf

Fibrosi cistica atipica

CARLO CASTELLANI
Centro Fibrosi Cistica, Azienda Ospedaliera, Verona

indirizzo per corrispondenza:carlo.castellani@azosp.vr.it

ATYPICAL CYSTIC FIBROSIS
Key words
Cystic fibrosis, CFTR gene, Atypical cystic fibrosis, CFTR related disease

Summary
In recent years the ability to detect cystic fibrosis (CF) mutations has greatly expanded the clinical spectrum of the disease. In a rising number of patients an atypical, usually mild phenotype is found; in others a single clinical feature predominates. A diagnosis of CF is usually formulated following a positive sweat test, or the identification of disease-causing gene mutations, or the in vivo demonstration of the typical abnormalities in ion transport across the nasal or rectal epithelium. However, these same tests, although helpful, may prove inconclusive in individuals with such an unusual clinical presentation. Very little information is available about the possible long-term evolution of these non classical forms of disease.


Vuoi citare questo contributo?
C. Castellani. FIBROSI CISTICA ATIPICA. Medico e Bambino 2006;25:155-173 https://www.medicoebambino.com/?id=0603_155.pdf

Prospettive di nuove terapie della fibrosi cistica

MASSIMO CONESE1, LUCIA PALMIERI, ELENA COPRENI Istituto per il Trattamento Sperimentale della Fibrosi Cistica, Ospedale S. Raffaele, Milano
1Dipartimento di Scienze Biomediche, Università di Foggia

indirizzo per corrispondenza:conese.massimo@hsr.it

NEW THERAPIES OF CYSTIC FIBROSIS
Key words
Adenoassociate virus, Bone marrow, Cardiac glycosides, Curcumin, Nanoparticles, Pharmacogenomics, Stem cells

Summary
Although to date symptomatic therapies for cystic fibrosis (CF) - based on the eradication/ control of opportunistic infections and facilitation of mucus excretion - have rapidly and significantly increased patients survival, an aetiological therapy is still far from being available. There are several ongoing studies with the aim of correcting the underlying defect of the disease ranging from gene therapy to studies on molecules which will help the mutated CFRT gene to correctly express its protein or to make it work better. Stem cell therapy is a promising technique since it does not require the use of vectors, fundamental in gene therapy. Pharmacogenomics will help developing new drugs and identifying new efficacy indicators of these drugs.


Vuoi citare questo contributo?
M. Conese, L. Palmieri, E. Copreni. PROSPETTIVE DI NUOVE TERAPIE DELLA FIBROSI CISTICA. Medico e Bambino 2006;25:155-173 https://www.medicoebambino.com/?id=0603_155.pdf






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