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Intestinal current measurement and nasal potential difference to make a diagnosis of cases with inconclusive CFTR genetics and sweat test.
Minso, Rebecca; Schulz, Angela; Dopfer, Christian; Alfeis, Nadine; Barneveld, Andrea van; Makartian-Gyulumyan, Lena; Hansen, Gesine; Junge, Sibylle; Müller, Carsten; Ringshausen, Felix C C; Sauer-Heilborn, Annette; Stanke, Frauke; Stolpe, Cornelia; Tamm, Stephanie; Welte, Tobias; Dittrich, Anna-Maria; Tümmler, Burkhard.
Afiliación
  • Minso R; Clinic for Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
  • Schulz A; Clinic for Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
  • Dopfer C; Clinic for Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
  • Alfeis N; Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), German Center for Lung Research DZL, Hannover, Germany.
  • Barneveld AV; Clinic for Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
  • Makartian-Gyulumyan L; Clinic for Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
  • Hansen G; Klinische Forschergruppe, OE 6710, Medizinische Hochschule Hannover, Hannover, Germany.
  • Junge S; Clinic for Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
  • Müller C; Klinische Forschergruppe, OE 6710, Medizinische Hochschule Hannover, Hannover, Germany.
  • Ringshausen FCC; Clinic for Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
  • Sauer-Heilborn A; Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), German Center for Lung Research DZL, Hannover, Germany.
  • Stanke F; Clinic for Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
  • Stolpe C; Clinic for Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
  • Tamm S; Biomedical Research in Endstage and Obstructive Lung Disease (BREATH), German Center for Lung Research DZL, Hannover, Germany.
  • Welte T; Department of Respiratory Medicine, Hannover Medical School, Hannover, Germany.
  • Dittrich AM; Department of Respiratory Medicine, Hannover Medical School, Hannover, Germany.
  • Tümmler B; Clinic for Paediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
BMJ Open Respir Res ; 7(1)2020 10.
Article en En | MEDLINE | ID: mdl-33020115
BACKGROUND: Nasal potential difference (NPD) and intestinal current measurements (ICM) are cystic fibrosis transmembrane conductance regulator (CFTR) biomarkers recommended to make a diagnosis in individuals with inconclusive sweat test and CFTR genetics and a clinical suspicion for cystic fibrosis (CF) or CFTR-related disorder (CFTR-RD). METHODS: NPD and ICM were measured according to standard operating procedures of the European Cystic Fibrosis Society Diagnostic Network Working Group. RESULTS: We assessed 219 individuals by NPD or ICM who had been referred to our laboratory due to clinical symptoms suggestive of CF, but inconclusive sweat test and CFTR genetics (median age: 16.3 years, range 0.4 to 76 years). CF or CFTR-related disorder was diagnosed in 22 of 29 patients (76%) with a CFTR genotype of unknown or variable clinical significance and in 51 of 190 carriers (27%) of one (35/42) or no (16/148) identified CFTR mutation. If two CFTR sequence variants had been identified, the outcome of NPD and ICM was consistent with the classification of the CFTR2 database. Moreover, a suspected false-positive diagnosis of CF was confirmed in seven and withdrawn in eight patients. Of 26 individuals assessed by both NPD and ICM, eleven individuals exhibited discordant tracings of ICM and NPD, with one measurement being in the CF range and the other in the normal range. CONCLUSION: The majority of patients whom we diagnosed with CF or CFTR-RD by extended electrophysiology are carriers of the wild-type CFTR coding sequence on at least one of their CF alleles. The disease-causing genetic lesions should reside in the non-coding region of CFTR or elsewhere in the genome, affecting the regulation of CFTR expression in a tissue-depending fashion which may explain the large within-group variability of CFTR activity in the respiratory and intestinal epithelium seen in this group.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Regulador de Conductancia de Transmembrana de Fibrosis Quística / Fibrosis Quística Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Humans / Infant / Middle aged Idioma: En Revista: BMJ Open Respir Res Año: 2020 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Regulador de Conductancia de Transmembrana de Fibrosis Quística / Fibrosis Quística Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Adolescent / Adult / Aged / Child / Child, preschool / Humans / Infant / Middle aged Idioma: En Revista: BMJ Open Respir Res Año: 2020 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido