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Aurora magazine

New guidelines for cystic fibrosis diagnosis

An international team of 32 experts of the Cystic Fibrosis Foundation has drawn up new guidelines for the diagnosis of cystic fibrosis. The experts came from 9 countries and have dealt with the review of the literature. The operation led to the writing of the 28 recommendations, 27 of which were approved by a vote of more than 80% of the commission. The study is available for free in The Journal of Pediatrics, and aims to improve the detection and treatment of the disease.

Among the most important changes is the adoption of the latest classification of CFTR mutations, the gene associated with the disease. The scientists collected data from patients from all over the world, so as to quantify and describe the possible abnormalities of the gene. In particular, they are resting on those from CFTR2 project, namely "Clinical and Functional Translation of CFTR." The project began in 2008 and has so far described 300 mutations in the CFTR gene on the more than 2,000 known.

Grading of CFTR mutations led to a their categorization. Researchers have distinct mutations explicable to the disease, the cause of other diseases, those nationally unrelated to cystic fibrosis and those unknown. In cases where DNA tests to identify a gene mutation, the researchers recommend that lean to the definitions of CFTR2 to see if this is transmissible and bearer of the disease.

In the case of carriers of the mutated gene parents, a neonatal screening test for the presence of the genetic defect in children is available. Unfortunately, the test is still little used sometimes fails to identify the disease. In the case of parental genetic predisposition, doctors then recommend to also make a post-neonatal period tests. The test detects a presence in the sweat of high levels of chlorine, indicating the malfunctioning CFTR.
As part of the sweat test, the researchers lowered the threshold of suspicion of cystic fibrosis diagnosis. Whereas before the concentration of chlorine was suspected of 40 mmol / l and 30 mmol / l depending on the age, now it is a0mmol / l to 20 mmol / l. With 60 mmol / l the diagnosis of cystic fibrosis is certain.

During pregnancy it is recommended that the mother monitors the health of your baby: the prenatal screening tests are useful because they can detect the probability of the presence of chromosomal abnormalities in the fetus.