title: [Management of infants whose diagnosis is inconclusive at neonatal screening for cystic fibrosis].
abstract: Neonatal screening for cystic fibrosis (CF) may detect infants with elevated immunoreactive trypsinogen (IRT) levels but with inconclusive sweat tests and/or DNA results. This includes cases associating (1) either the presence of at most one CF-causing mutation and sweat chloride values between 30 and 59mmol/L or (2) two CFTR mutations with at least one of unknown pathogenicity and a sweat chloride below 60mmol/L. This encompasses different clinical situations whose progression cannot be predicted. These cases require redoing the sweat test at 12 months and if possible at 6 and 24 months of life. This must be associated with extended genotyping. CFTR functional explorations can also help by investigating CFTR dysfunction. These infants must be initially evaluated in dedicated CF centers including bacteriological sputum analysis, chest radiology and fecal elastase dosage. A home practitioner must be informed of the specificity of follow-up. These infants will be reviewed in the CF center at 3, 6 and 12 months and every year. Any CF-related symptom requires reevaluation of the diagnosis. These guidelines were established by the "neonatal screening and difficult diagnoses" working group of the French CF Society. They aim to standardize management of infants with unclear diagnosis in French CF centers.
authors.affiliation: Centre de ressources et de compétences en mucoviscidose, hôpital Necker-Enfants Malades, 149, rue de Sévres, 75015 Paris, France; Inserm U 1151, Paris, France. Electronic address: isabelle.sermet@aphp.fr.
authors.forename: I
authors.initials: I
authors.lastname: Sermet-Gaudelus
authors.affiliation: Centre de ressources et de compétences en mucoviscidose, hôpital de la Côte-de-Nacre, 14033 Caen, France.
authors.forename: J
authors.initials: J
authors.lastname: Brouard
authors.affiliation: Laboratoire de génétique moléculaire, CHRU de Brest, 29609 Brest, France.
authors.forename: M-P
authors.initials: MP
authors.lastname: Audrézet
authors.affiliation: Centre de ressources et de compétences en mucoviscidose, hôpital Charles-Nicolle, 76000 Rouen, France.
authors.forename: L
authors.initials: L
authors.lastname: Couderc Kohen
authors.affiliation: Centre de ressources et de compétences en mucoviscidose, hôpital de Hautepierre, 67200 Strasbourg, France.
authors.forename: L
authors.initials: L
authors.lastname: Weiss
authors.affiliation: Centre de ressources et de compétences en mucoviscidose, hôpital Jeanne-de-Flandres, 59000 Lille, France.
authors.forename: N
authors.initials: N
authors.lastname: Wizla
authors.affiliation: Centre de ressources et de compétences en mucoviscidose, hôpital Mère-Enfant, 69677 Lyon, France.
authors.forename: S
authors.initials: S
authors.lastname: Vrielynck
authors.affiliation: Centre de ressources et de compétences en mucoviscidose, CHU, 38700 Grenoble, France.
authors.forename: K
authors.initials: K
authors.lastname: LLerena
authors.affiliation: Centre de ressources et de compétences en mucoviscidose, hôpital Necker-Enfants Malades, 149, rue de Sévres, 75015 Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Le Bourgeois
authors.affiliation: Centre de ressources et de compétences en mucoviscidose, CHU, 35000 Rennes, France.
authors.forename: E
authors.initials: E
authors.lastname: Deneuville
authors.affiliation: Centre de ressources et de compétences en mucoviscidose, hôpital InterCommunal de Créteil, 94000 Créteil, France.
authors.forename: N
authors.initials: N
authors.lastname: Remus
authors.affiliation: Centre de ressources et de compétences en mucoviscidose, hôpital Necker-Enfants Malades, 149, rue de Sévres, 75015 Paris, France.
authors.forename: T
authors.initials: T
authors.lastname: Nguyen-Khoa
authors.affiliation: Institut de génétique moléculaire, UMR 5535, 34293 Montpellier, France.
authors.forename: C
authors.initials: C
authors.lastname: Raynal
authors.affiliation: Association française pour le dépistage et la prévention des handicaps de l'enfant, 75015 Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Roussey
authors.affiliation: Laboratoire de génétique moléculaire, hôpital Cochin, 75014 Paris, France.
authors.forename: E
authors.initials: E
authors.lastname: Girodon
mesh_terms: D002712:Chlorides / Q000097:blood; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D033183:Interdisciplinary Communication; D000070516:Intersectoral Collaboration; D015997:Neonatal Screening / Q000379:methods*; D011237:Predictive Value of Tests; D012017:Referral and Consultation; D013542:Sweat / Q000737:chemistry
chemical_list: C505032:CFTR protein, human; D002712:Chlorides; D019005:Cystic Fibrosis Transmembrane Conductance Regulator