Diagnosis of atypical CF: a case-report to reflect.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society
Federico AlghisiVincenzina Lucidi

Abstract

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.

References

Apr 1, 1995·American Journal of Respiratory and Critical Care Medicine·T Z KhanD W Riches
Jun 1, 1995·The New England Journal of Medicine·M ChillónM Claustres
Mar 3, 2004·Proceedings of the National Academy of Sciences of the United States of America·Timothy W HefferonGarry R Cutting
Dec 31, 2005·Thorax·K De BoeckUNKNOWN Diagnostic Working Group
May 24, 2007·Proceedings of the National Academy of Sciences of the United States of America·Wen Ming XuHsiao Chang Chan

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Citations

Feb 1, 2020·Pediatrics International : Official Journal of the Japan Pediatric Society·Ayse Ayzit KilincHaluk Cokugras
Jun 6, 2019·BMJ Case Reports·Muhammad Adnan SaleemMuhammad Badar Ganaie

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