No abstract

No abstract

Until the year 2000, systematic cystic fibrosis (CF) neonatal screening was only performed in a few regions of France. The Brittany region began in 1989, but not the neighboring region of Loire-Atlantique. The present study compares the clinical evolution of both affected populations 10 years after screening was started. Although the 77 screened and 36 nonscreened children were followed in different CF centers, they were included in similar care protocols. The clinical characteristics at diagnosis and their evolution over a 10-year period of all the children affected with CF and born between January 1, 1989 and December 31, 1998, excluding those with meconium ileus, were compared. There were no significant differences in sex ratio, gestational age, anthropometric data at birth, frequency of deltaF508 homozygotes, proportion of pancreatic-insufficient patients, and mean age between the two populations. Age at diagnosis was lower in the screened group (38 days vs. 472 days, P < 10(-7)), as was the delay in supplementation with pancreatic enzymes (1.7 months vs.15.9 months, P < 10(-7)). The proportion of children who were hospitalized at least once was higher among the nonscreened than the screened patients (86% vs. 49%, P < 10(-4)). Z-scores for weight and height were significantly better in the screened population, not only in the first years of life, but also at 5 years old for height and 8 years old for weight. The Shwachman and Brasfield scores were higher among the screened children during the whole period of follow-up. No significant differences in colonization by Pseudomonas aeruginosa nor in lung function were found. Given the homogeneity in the characteristics and the follow-up of both populations, the benefits in terms of nutrition and clinical well-being of neonatal screening appear to be clear, thus confirming the advantages of its general implementation.

In view of the high frequency of R117H-7T identified by cystic fibrosis newborn screening, the uncertain outcome of the asymptomatic children, and physicians' difficulty in managing these situations, we propose the withdrawal of the R117H variant from the panels of CFTR mutations used in cystic fibrosis newborn screening, given the expanding implementation of cystic fibrosis newborn screening.

Apart from the high frequency of the AF508 mutation (81-81%) in Breton cystic fibrosis chromosomes, one mutation, 1078 del T, is also observed frequently (4-96%) in this group, in comparison with the rest of the French where it occurs with a frequency of 0-57%. These two mutations account for more than 86-5% of the total CF mutations identified on Breton chromosomes. We have conducted an unblinded retrospective analysis of 25 patients with the 1078 del T mutation and compared their phenotypes with those of a group of 70 AF508 homozygous patients. Both groups of patients had the same ethnic origin and were regularly attending the same CF centre in Brittany, which makes this sample highly homogeneous despite the small size. The 1078 del T mutation appeared to be associated with severe presentation of the disease with, however, a trend to reduced mortality and less Pseudomonas aeruginosa colonisation. (J Med Genet 1994;31:159-161) Patients and methods PATIENTSThis study is an unblinded retrospective analysis of 25 1078 del T patients seen on a regular basis at the CF Centre Helio Marin in Roscoff, Brittany. Data concerning clinical presentation included height, weight, age at diagnosis, age at first infection with Pseudomonas aeruginosa, and history of meconium ileus. Information on pulmonary status included percent predicted forced vital capacity (FVC), percent predicted forced expiratory volume in one second (FEVI), both parameters tested in a stable period. Categorical (yes/no) data regarding pancreatic sufficiency, meconium ileus, chronic presence of Pseudomonas aeruginosa colonisation, and liver involvement were studied.Of the 1078 del T CF patients, 8% (2/25) were homozygous, 64% (16/25) were carrying the AF508 mutation on the other chromosome, and the remaining 28% (7/25) were compound heterozygotes (1078 del T/other mutation). In the latter group, we found associated with the 1078 del T mutation one R1066H, one 1221 del CT, one W846X, one

No abstract

No abstract

No abstract