Diagnosis of atypical CF: a case-report to reflect.
Non-classic Cystic Fibrosis (CF) still represents a difficult entity to diagnose. We present a case of two sisters affected by mild pulmonary symptoms started at puberty, carriers of the F508del mutation associated with the T5TG13 combination. We discuss the clinical utility of TG repeat testing in individuals carrying the T5 variant. Furthermore, this case-report leads to reflect on the natural history of CF and the correct management of its atypical forms.
Alghisi
F
F
Unit of Cystic Fibrosis, Bambino Gesù Children's Hospital-Rome, Italy.
Angioni
A
A
Laboratory of Cytogenetics and Molecular Genetics, Bambino Gesù Children's Hospital-Rome, Italy.
Tomaiuolo
A C
AC
Laboratory of Cytogenetics and Molecular Genetics, Bambino Gesù Children's Hospital-Rome, Italy.
D'Apice
M R
MR
Department of Biopathology and Diagnostic Imaging, Tor Vergata University-Rome, Italy.
Bella
S
S
Unit of Cystic Fibrosis, Bambino Gesù Children's Hospital-Rome, Italy.
Novelli
G
G
Department of Biopathology and Diagnostic Imaging, Tor Vergata University-Rome, Italy.
Lucidi
V
V
Unit of Cystic Fibrosis, Bambino Gesù Children's Hospital-Rome, Italy. Electronic address: lucidi@opbg.net.
D001987:Bronchiectasis / Q000209:etiology; D003550:Cystic Fibrosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D009154:Mutation; D010375:Pedigree; D055815:Young Adult
D019005:Cystic Fibrosis Transmembrane Conductance Regulator