ArticleCureus2024
A Rare Case of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutation on Exon 8 in a Patient Presenting With Recurrent Infections and Failure to Thrive.
Article in Cureus, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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4 authors.
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Abstract
Cystic fibrosis (CF) is a genetic disorder that affects various bodily organs, predominantly the pulmonary and gastrointestinal systems. Identifying CF at an early stage can pose a significant challenge, especially when symptoms manifest unusually. The following case study depicts an exceptional and atypical instance of CF in a neonate. A male infant aged 4 months exhibited symptoms such as failure to thrive (FTT), inadequate weight gain, feeding difficulties, slight developmental delay (presence of head lag), and sporadic irritability. The patient experienced an uncomplicated prenatal and postnatal period. Subsequently, the patient suffered from recurring infections and a notable inability to gain weight. Initial tests, encompassing assessments of liver functionality and metabolic processes, yielded inconclusive results. A genetic assessment pinpointed a detrimental cystic fibrosis transmembrane conductance regulator (
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