Cystic Fibrosis - Reference

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Cystic Fibrosis - Symptoms - CFTR mutation - Diagnosis - Treatment - Prognosis

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Author: Dr. Reeja Tharu

Editor: Dr. Shroff

Technical: Lingaraj

Editor's Note

We would welcome your suggestions to improve and further enhance the content and quality of this article. You are welcome to edit, delete or point out language errors in the article.

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Posted by: prema Posted on: 12/28/2009

As the above article mentions, cystic fibrosis is an autosomal recessive disease and testing for carrier status has been available, but screening policies differ widely. An interesting screening study between neighboring towns in Italy was reported recently. This study reports on a natural experiment which arose in north eastern Italy when Veneto adopted a conservative carrier testing policy while next door in the Padua area, much wider testing was carried out. In both regions babies are also tested for CF at birth, and in the Padua area there were half as many as in the Veneto area. In other words, couples do make reproductive choices based on their carrier status.
http://jama.ama-assn.org

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Posted by: prema Posted on: 12/20/2009

Cystic fibrosis in India is rare. Also there is less awareness among medical staff. Apparently frequency of common mutation F508del in Indian children is between 19% and 34%. The cystic fibrosis wordlwide is willing to fund projects for two years in India. There is an appeal on thier site - just google cystic fibrosis wordlwide india and see the response.

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