Case Report: A Nigerian Child with a diagnosis of cystic fibrosis -Review of literature and challenges with management in a resource-limited setting

Cystic fibrosis, an autosomal recessive disease that arises from a defective cystic fibrosis transmembrane conductance regulator (CFTR) protein is not a common genetically inherited condition recognized among people of non-Caucasian or African descent and is sparsely reported in the literature from sub-Sahara Africa. The presentation of Cystic fibrosis in a Nigerian child with no history of parental consanguinity or foreign ancestry has not been reported. Herein, we report a case of a 4-year-old Nigerian male who presented with classical clinical features of Cystic fibrosis that was confirmed following genetic testing and also highlights challenges with management in a resource-limited setting.

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Publication Details

Published
2025-09-20
DOI
https://doi.org/10.82222/njcd.vol3no1.44
Primary Topic
Bacterial Genetics and Biotechnology
Type
article
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article

Case Report: A Nigerian Child with a diagnosis of cystic fibrosis -Review of literature and challenges with management in a resource-limited setting

Bacterial Genetics and Biotechnology
article

Case Report: A Nigerian Child with a diagnosis of cystic fibrosis -Review of literature and challenges with management in a resource-limited setting

article en

Abstract

Cystic fibrosis, an autosomal recessive disease that arises from a defective cystic fibrosis transmembrane conductance regulator (CFTR) protein is not a common genetically inherited condition recognized among people of non-Caucasian or African descent and is sparsely reported in the literature from sub-Sahara Africa. The presentation of Cystic fibrosis in a Nigerian child with no history of parental consanguinity or foreign ancestry has not been reported. Herein, we report a case of a 4-year-old Nigerian male who presented with classical clinical features of Cystic fibrosis that was confirmed following genetic testing and also highlights challenges with management in a resource-limited setting.

University of Port Harcourt Teaching Hospital (NG), Rivers State University (NG)
Openalex Percentile: Top 37%
Bacterial Genetics and Biotechnology
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