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Phenotypic Presentations of Cystic Fibrosis in Children of African Descent

The Robert Debre Pediatric Cystic Fibrosis (CF) centre, located in the North East of Paris, a multicultural area, is in charge of a cohort of around a hundred and sixty children diagnosed with CF. Between 2000 and 2019, the proportion of children of African descent in this centre increased from 2% t...

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Autores principales: Mayer Lacrosniere, Sophie, Gerardin, Michele, Clainche-Viala, Laurence Le, Houdouin, Veronique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8004676/
https://www.ncbi.nlm.nih.gov/pubmed/33807078
http://dx.doi.org/10.3390/genes12030458
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author Mayer Lacrosniere, Sophie
Gerardin, Michele
Clainche-Viala, Laurence Le
Houdouin, Veronique
author_facet Mayer Lacrosniere, Sophie
Gerardin, Michele
Clainche-Viala, Laurence Le
Houdouin, Veronique
author_sort Mayer Lacrosniere, Sophie
collection PubMed
description The Robert Debre Pediatric Cystic Fibrosis (CF) centre, located in the North East of Paris, a multicultural area, is in charge of a cohort of around a hundred and sixty children diagnosed with CF. Between 2000 and 2019, the proportion of children of African descent in this centre increased from 2% to 10%. We report the clinical features of 17 children of African descent diagnosed with CF: 4 (23%) were diagnosed after a meconium ileus, 14 (83%) had exocrine pancreatic insufficiency, and 7 (41%) had early Pseudomonas aeruginosa infection before the age of two. Even though the majority of patients were diagnosed through NBS, the twenty-nine-mutation testing kit proved less effective in non-Caucasian populations, with a false negative rate of 25% in this series. CF is definitely not solely a Caucasian disease and the literature reveals similar phenotypes in Caucasian and African people provided that they present the same CFTR mutations. Clinicians have to keep in mind that the diagnosis of CF in patients of African descent must be evoked in the case of symptoms and a sweat test must be performed, despite a negative result for NBS.
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spelling pubmed-80046762021-03-29 Phenotypic Presentations of Cystic Fibrosis in Children of African Descent Mayer Lacrosniere, Sophie Gerardin, Michele Clainche-Viala, Laurence Le Houdouin, Veronique Genes (Basel) Article The Robert Debre Pediatric Cystic Fibrosis (CF) centre, located in the North East of Paris, a multicultural area, is in charge of a cohort of around a hundred and sixty children diagnosed with CF. Between 2000 and 2019, the proportion of children of African descent in this centre increased from 2% to 10%. We report the clinical features of 17 children of African descent diagnosed with CF: 4 (23%) were diagnosed after a meconium ileus, 14 (83%) had exocrine pancreatic insufficiency, and 7 (41%) had early Pseudomonas aeruginosa infection before the age of two. Even though the majority of patients were diagnosed through NBS, the twenty-nine-mutation testing kit proved less effective in non-Caucasian populations, with a false negative rate of 25% in this series. CF is definitely not solely a Caucasian disease and the literature reveals similar phenotypes in Caucasian and African people provided that they present the same CFTR mutations. Clinicians have to keep in mind that the diagnosis of CF in patients of African descent must be evoked in the case of symptoms and a sweat test must be performed, despite a negative result for NBS. MDPI 2021-03-23 /pmc/articles/PMC8004676/ /pubmed/33807078 http://dx.doi.org/10.3390/genes12030458 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) ).
spellingShingle Article
Mayer Lacrosniere, Sophie
Gerardin, Michele
Clainche-Viala, Laurence Le
Houdouin, Veronique
Phenotypic Presentations of Cystic Fibrosis in Children of African Descent
title Phenotypic Presentations of Cystic Fibrosis in Children of African Descent
title_full Phenotypic Presentations of Cystic Fibrosis in Children of African Descent
title_fullStr Phenotypic Presentations of Cystic Fibrosis in Children of African Descent
title_full_unstemmed Phenotypic Presentations of Cystic Fibrosis in Children of African Descent
title_short Phenotypic Presentations of Cystic Fibrosis in Children of African Descent
title_sort phenotypic presentations of cystic fibrosis in children of african descent
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8004676/
https://www.ncbi.nlm.nih.gov/pubmed/33807078
http://dx.doi.org/10.3390/genes12030458
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