{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T01:57:54Z","timestamp":1778637474160,"version":"3.51.4"},"reference-count":13,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2021,3,23]],"date-time":"2021-03-23T00:00:00Z","timestamp":1616457600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.3390\/genes12030458","type":"journal-article","created":{"date-parts":[[2021,3,23]],"date-time":"2021-03-23T14:08:16Z","timestamp":1616508496000},"page":"458","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Phenotypic Presentations of Cystic Fibrosis in Children of African Descent"],"prefix":"10.3390","volume":"12","author":[{"given":"Sophie","family":"Mayer Lacrosniere","sequence":"first","affiliation":[{"name":"AP-HP, Pediatric Pulmonology and CF Centre, University Hospital Robert Debre, University of Paris, CEDEX 19, 75935 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Gerardin","sequence":"additional","affiliation":[{"name":"AP-HP, Pediatric Pulmonology and CF Centre, University Hospital Robert Debre, University of Paris, CEDEX 19, 75935 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence Le","family":"Clainche-Viala","sequence":"additional","affiliation":[{"name":"AP-HP, Pediatric Pulmonology and CF Centre, University Hospital Robert Debre, University of Paris, CEDEX 19, 75935 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronique","family":"Houdouin","sequence":"additional","affiliation":[{"name":"AP-HP, Pediatric Pulmonology and CF Centre, University Hospital Robert Debre, University of Paris, CEDEX 19, 75935 Paris, France"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,3,23]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"653","DOI":"10.1038\/gim.2015.157","article-title":"Cystic fibrosis on the African continent","volume":"18","author":"Stewart","year":"2016","journal-title":"Genet. Med."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1513\/AnnalsATS.201606-481FR","article-title":"Cystic Fibrosis in the African Diaspora","volume":"14","author":"Stewart","year":"2017","journal-title":"Ann. Am. Thorac. Soc."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"6","DOI":"10.1177\/0969141317692611","article-title":"Optimization of the French cystic fibrosis newborn screening programme by a centralized tracking process","volume":"25","author":"Munck","year":"2017","journal-title":"J. Med Screen."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1002\/humu.22927","article-title":"Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population","volume":"37","author":"Hughes","year":"2016","journal-title":"Hum. Mutat."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1093\/tropej\/fmp064","article-title":"Diagnostic Challenges of Cystic Fibrosis in Patients of African Origin","volume":"55","author":"Mutesa","year":"2009","journal-title":"J. Trop. Pediatr."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.jcf.2016.12.012","article-title":"The expansion and performance of national newborn screening programmes for cystic fibrosis in Europe","volume":"16","author":"Barben","year":"2017","journal-title":"J. Cyst. Fibros."},{"key":"ref_7","unstructured":"(2021, March 09). Rapport Annuel de l\u2019Association Francaise Pour le Depistage et la Pr\u00e9vention des Handicaps de l\u2019Enfant-2016, Paris, June 2017. 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