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French Registry
- Question
- Hello,
To a question I asked you about the mutation 3849 + 10 kb and neonatal screening you answered that 80 patients were carriers of this mutation and only 17 of them were detected by neonatal test. Were the other 63 patients false negatives because they were pancreatic sufficient?
Thank you and best regards
- Answer
- Hello,
I received clarification from the French Registry of Cystic Fibrosis on April 13th 2016:
the Register reports 81 patients seen in 2014 carrying the mutation 3849 + 10 kb. 17 were diagnosed following screening and 64 on suggestive symptoms likely before the establishment of a systematic neonatal screening.
16 the 81 patients (20%) were pancreatic insufficient this is a proportion much lower than for patients having other mutations (85%).
I haven’t got a response to an information request yet to the French Association for the Diagnosis and Prevention of Child’s Handicaps (AFDPHE) to specify the number of children carrying this mutation who have had a false negative screening. This information is not recorded in the French Registry of Cystic Fibrosis. I asked that the issue be added to the forthcoming annual update of the Registry questionnaire.
Happy Easter Holidays to you.
Gilles RAULT, MD, Roscoff CF Center
- 11.05.2016
