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Archives de pédiatrie : organe officiel de la Société française de pédiatrie v.24 no.12, 2017년, pp.e1 - e14   SCIE
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Recommandations pour la prise en charge et le suivi des nourrissons pour lesquels un diagnostic de mucoviscidose n'a pu Etre conclu aprEs dEpistage nEonatal
Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening

Sermet-Gaudelus, I. (Cystic fibrosis center, Necker-Enfants-Malades hospital, 75015 Paris, France ) ; Brouard, J. (Cystic fibrosis reference center, hôpital de la Côte-de-Nacre, 14033 Caen, France ) ; Audrézet, M.-P. (Molecular genetic laboratory, CHRU de Brest, 29609 Brest, France ) ; Couderc Kohen, L. (Cystic fibrosis reference center, Charles-Nicolle hospital, 76000 Rouen, France ) ; Weiss, L. (Cystic fibrosis reference center, Hautepierre hospital, 67200 Strasbourg, France ) ; Wizla, N. (Cystic fibrosis reference center, Jeanne-de-Flandres hospital, 59000 Lille, France ) ; Vrielynck, S. (Cystic fibrosis reference center, child and mother hospital, 69677 Lyon, France ) ; LLerena, K. (Cystic fibrosis center, university hospital, 38700 Grenoble, France ) ; Le Bourgeois, M. (Cystic fibrosis center, Necker-Enfants-Malades hospital, 75015 Paris, France ) ; Deneuville, E. (Cystic fibrosis center, CHU de Rennes, 35000 Rennes, France ) ; Remus, N. (Cystic fibrosis center, Créteil intercommunal hospital, 94000 Créteil, France ) ; Nguyen-Khoa, T. (Cystic fibrosis center, Necker-Enfants-Malades hospital, 75015 Paris, France ) ; Raynal, C. (UMR 5535, molecular genetic institute, 342 ) ; Roussey, M. ; Girodon, E. ;
  • 초록  

    Summary Neonatal screening for cystic fibrosis (CF) can detect infants with elevated immunoreactive trypsinogen (IRT) levels and inconclusive sweat tests and/or CFTR DNA results. These cases of uncertain diagnosis are defined by (1) either the presence of at most one CF-associated cystic fibrosis transmembrane conductance regulator ( CFTR ) mutation with sweat chloride values between 30 and 59mmol/L or (2) two CFTR mutations with at least one of unknown pathogenic potential and a sweat chloride concentration below 60mmol/L. This encompasses various clinical situations whose progression cannot be predicted. In these cases, a sweat chloride test has to be repeated at 12 months, and if possible at 6 and 24 months of life along with extended CFTR sequencing to detect rare mutations. When the diagnosis is not definite, CFTR functional explorations may provide a better understanding of CFTR dysfunction. The initial evaluation of these infants must be conducted in dedicated CF reference centers and should include bacteriological sputum analysis, chest radiology, and fecal elastase assay. The primary care physicians in charge of these patients should be familiar with the current management of CF and should work in collaboration with CF centers. A follow-up should be performed in a CF reference center at 3, 6, and 12 months of life and every year thereafter. Any symptom indicative of CF requires immediate reevaluation of the diagnosis. These guidelines were established by the “neonatal screening and difficult diagnoses” working group of the French CF society. Their objective is to standardize the management of infants with unclear diagnosis.


    REsumE Les cas d’hypertrypsinEmie au dEpistage nEonatal pour lesquels le diagnostic reste non conclu sont dEfinis soit (1) par l’association d’une mutation au plus du gEne CFTR associEe A la mucoviscidose avec une concentration de chlorure sudoral intermEdiaire entre 30 et 59mmol/L, soit (2) par l’association de 2 mutations de CFTR , dont au moins une est de pathogEnicitE indEterminEe avec une concentration de chlorure sudoral infErieure A 60mmol/L. Ces situations regroupent des formes cliniques diffErentes dont il est impossible de prEvoir l’Evolution. Ceci impose de refaire un test de la sueur A 12 mois et si possible A 6 et 24 mois et de rechercher les mutations rares du gEne CFTR. En l’absence de conclusion, des explorations fonctionnelles visant A Etablir une dysfonction de CFTR peuvent Etre proposEes. Les nourrissons concernEs doivent avoir une Evaluation initiale au sein d’un centre de ressources et de compEtences pour la mucoviscidose (CRCM) comprenant une Etude bactEriologique des sEcrEtions bronchiques, une radiologie de thorax et un dosage de l’Elastase fEcale. Le praticien libEral rEfErent doit Etre informE des particularitEs de la prise en charge et travailler en collaboration avec le CRCM. L’enfant doit Etre revu A 3, 6 et 12 mois, puis tous les ans au CRCM. L’apparition de symptOmes Evocateurs de mucoviscidose justifie une rEEvaluation. Ces recommandations Etablies par le groupe ≪ DEpistage et formes de diagnostic difficile ≫ de la SociEtE franCaise de la mucoviscidose visent A uniformiser les pratiques dans les CRCM pEdiatriques franCais pour un suivi rationnel adaptE et Ethique.


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