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Titolo:
European Epidemiologic Registry of Cystic Fibrosis (ERCF): Comparison of major disease manifestations between patients with different classes of mutations
Autore:
Koch, C; Cuppens, H; Rainisio, M; Madessani, U; Harms, HK; Hodson, ME; Mastella, G; Navarro, J; Strandvik, B; McKenzie, SG;
Indirizzi:
Copenhagen Univ Hosp, Rigshosp, Dept Pediat, Copenhagen, Denmark Copenhagen Univ Hosp Copenhagen Denmark ept Pediat, Copenhagen, Denmark Ctr Human Genet, Louvain, Belgium Ctr Human Genet Louvain BelgiumCtr Human Genet, Louvain, Belgium Stat Res SFR Ltd, Basel, Switzerland Stat Res SFR Ltd Basel SwitzerlandStat Res SFR Ltd, Basel, Switzerland Univ Munich, Childrens Hosp, D-8000 Munich, Germany Univ Munich Munich Germany D-8000 Childrens Hosp, D-8000 Munich, Germany Royal Brompton Hosp, Cyst Fibrosis Dept, London SW3 6LY, England Royal Brompton Hosp London England SW3 6LY Dept, London SW3 6LY, England Cyst Fibrosis Res Ctr, Dept Pulm & Digest Dis Dev Age, Verona, Italy Cyst Fibrosis Res Ctr Verona Italy & Digest Dis Dev Age, Verona, Italy Hop Robert Debre, Dept Gastroenterol, F-75019 Paris, France Hop Robert Debre Paris France F-75019 stroenterol, F-75019 Paris, France Univ Gothenburg, Queen Silvia Childrens Hosp, Dept Pediat, Gothenburg, Sweden Univ Gothenburg Gothenburg Sweden Hosp, Dept Pediat, Gothenburg, Sweden F Hoffmann La Roche & Co Ltd, Div Pharmaceut, CH-4002 Basel, Switzerland FHoffmann La Roche & Co Ltd Basel Switzerland CH-4002 asel, Switzerland
Titolo Testata:
PEDIATRIC PULMONOLOGY
fascicolo: 1, volume: 31, anno: 2001,
pagine: 1 - 12
SICI:
8755-6863(200101)31:1<1:EEROCF>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
TRANSMEMBRANE CONDUCTANCE REGULATOR; EXOCRINE PANCREATIC FUNCTION; GENOTYPE ANALYSIS; LIVER-DISEASE; GENETIC-DETERMINANTS; DELTA-F508 MUTATION; PULMONARY-DISEASE; LUNG-DISEASE; MILD-DISEASE; CFTR;
Keywords:
cystic fibrosis; genotype; phenotype; registry; Pseudomonas aeruginosa; liver function; pulmonary function; diabetes mellitus;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
50
Recensione:
Indirizzi per estratti:
Indirizzo: Koch, C Rigshosp, Dept Pediat, Blegdamsvej 9, DK-2100 Copenhagen, Denmark Rigshosp Blegdamsvej 9 Copenhagen Denmark DK-2100 nhagen, Denmark
Citazione:
C. Koch et al., "European Epidemiologic Registry of Cystic Fibrosis (ERCF): Comparison of major disease manifestations between patients with different classes of mutations", PEDIAT PULM, 31(1), 2001, pp. 1-12

Abstract

By August 1997, 11,749 patients with cystic fibrosis had been enrolled in the European Epidemiologic Registry of Cystic Fibrosis (ERCF). Genotype analysis had been performed on 8,963 (76%) of these patients, and the majorityhad one or two identifiable mutations. Patients with known mutations were classified according to the type of mutation (Classes I-V), and were grouped according to the class of mutation on both chromosomes. This resulted in six subgroups, including all patients homozygous for Class I (I/I, n = 72),for Class II (II/II, n = 5,020), and for Class III mutations, (III/III, n = 23). Since there were only 23 patients homozygous for Class III mutations, a fourth group was made up of patients who were compound heterozygous fora Class II and III mutation (II/III, n = 265). There were only five patients homozygous for Class IV mutations, and consequently a fifth group was made up of all patients carrying at least one Class IV mutation, regardless of the nature of the mutation on the other chromosome (IV/any, n = 187). None were homozygous for Class V mutations; consequently, a sixth group consisted of patients carrying at least one Class V mutation (V/any, n = 22). Mean age was highest in groups III/III, IV/any. and V/any (15.6, 16, and 17 years, respectively) as opposed to 12.4 years in group II/II and 13.4 in group II/III, but both group III/III and V/any were small, and the confidence interval of the mean was large. The percentage of patients receiving pancreatic enzymes was lower in groups IV/any and V/any than in any of the other groups. i.e., approximately 50% of patients 18 years or older in both groups as opposed to between 90-100% of all other patients regardless of age. The prevalence of diabetes mellitus increased with age from 2.6% in patients < 18 years to 22.1% in patients 18 years or older in the large group II/II, but was only 1.5% in patients 18 years or older in group IV/any, Disregarding the small group III/III, abnormally elevated liver enzymes and/or bilirubin (1.5 x upper normal limit) was much less frequent in group IV/any than in any of the other groups, both overall and in patients aged 18 years or more. The course of lung disease appeared to be less dependent on genotype than pancreatic function, with only minor differences between groups; however. the mean values of both FVC % and FEV1 % were slightly higher in group IV/any than all other groups in both younger and older patients. The same was found for the prevalence of some major clinical signs of severe lung disease, such as clubbing, hyperinflation, and crepitations. Overall mean weight expressed as an age percentile was markedly higher in group IV/any than in any other group, which may be related to the finding of a much lower prevalence of chronic P. aeruginosa infection in patients 18 years or olderbelonging to group IV/any land V/any) than in any other group. In conclusion, the presence of a class IV mutation appears to offer some degree of protection against pancreatic insufficiency. diabetes mellitus, and liver disease. We confirmed that lung disease follows a milder clinical course in patients with a class IV mutation and that the presence of a classIV mutation land possibly class V) is associated with a delay in the onsetof P. aeruginosa infection. (C) 2001 Wiley-Liss. Inc.

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Documento generato il 31/03/20 alle ore 22:16:38