Fibrosi cistica

di
neonato1

La fibrosi cistica è una malattia ereditaria delle ghiandole secretorie, tra le quali quelle che producono il muco ed il sudore.
Ereditaria significa che la malattia viene trasmessa quando entrambi i genitori hanno un gene difettoso, che di per se non provoca disturbi, e lo passano al figlio.

La fibrosi cistica colpisce principalmente i polmoni, il pancreas, il fegato, l’intestino, il seno e gli organi sessuali. Si tratta del malfunzionamento di un particolare gene, CFTR che è stato identificato sul cromosoma 7, e la cui funzione è quella di controllare la produzione di una proteina che controlla il flusso di acque e sali all’interno ed all’esterno delle cellule. Anomalie nella proteina provocano un ridotto flusso di acqua, compromettendo in questo modo la consistenza delle secrezioni, in particolare di muco e sudore.

Il muco per esempio è una sostanza scivolosa ed acquosa, la cui funzione è quella di mantenere nella giusta umidità gli organi ed impedirne sia l’eccessiva disidratazione che le possibili infezioni.

Nel caso della fibrosi cistica esso diventa denso ed appiccicoso.

Di conseguenza esso si accumula in alcuni organi, come i polmoni, impedendo da un lato il normale afflusso di aria, e dall’altro, a causa dell’accumulo, favorendo fenomeni infiammatori, che in un lungo periodo vanno a danneggiare anche gravemente il polmone.

Il muco denso e appiccicoso è anche in grado di bloccare i condotti pancreatici, con la conseguenza che gli enzimi digestivi che esso produce non raggiungono l’intestino, impedendo il normale assorbimento delle sostanze nutritive.

Senza gli enzimi l’intestino non è in grado di utilizzare al meglio il suo potere digestivo, e ciò provoca carenze di vitamine e di apporti nutritivi, oltre ad una serie di altri disturbi come la formazione di gas intestinali, stipsi, dolori addominali ed un senso di pesantezza.

La fibrosi cistica influisce anche sulla produzione del sudore, che può risultare molto ricco di sali.

Ciò va a sconvolgere il normale equilibrio di sali minerali nell’organismo, con la conseguenza di una serie di complicazioni ulteriori causate dalla scompenso. Tra queste disidratazione, aumento della frequenza cardiaca, stanchezza, debolezza, abbassamento della pressione sanguigna.

La fibrosi cistica è un fattore di rischio per malattie come il diabete, e l’osteoporosi, oltre a causare l’infertilità nell’uomo ed influire sulle probabilità di rimanere incinta nelle donne.

I sintomi e la gravità della fibrosi cistica variano da persona a persona e possono variare anche nel corso del tempo. Tra le problematiche di salute più comuni i problemi respiratori ed all’apparato digerente.

Talvolta i sintomi possono essere leggeri, talvolta invece presentarsi con notevole gravità ed intensità.

Tra le prime avvisaglie, nei bambini, la funzionalità polmonare, che si riduce e provoca una serie di disturbi che a lungo andare provocano gravi danni ai polmoni. L’insufficienza respiratoria è tra le prime cause di morte nelle persone affette da fibrosi cistica.

Sebbene non esistano cure, attualmente la scienza medica è in grado di allungare, attraverso opportuni trattamenti nutrizionali, terapie per migliorare la respirazione, e l’esercizio fisico, le probabilità medie di vita, che oggi raggiunge i 40-50 anni. Miglioramento che occorre soprattutto se il disturbo viene identificato in una fase precoce.

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