Literature DB >> 18180206

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

F Alghisi1, A Angioni, A C Tomaiuolo, M R D'Apice, S Bella, G Novelli, V 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.

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Year:  2008        PMID： 18180206     DOI： 10.1016/j.jcf.2007.11.002

Source DB:  PubMed          Journal:  J Cyst Fibros        ISSN： 1569-1993            Impact factor:   5.482


  3 in total

1.  Atypical presentation of cystic fibrosis at 70 years of age.

Authors:  Muhammad Adnan Saleem; Aled Phillips; Muhammad Badar Ganaie
Journal:  BMJ Case Rep       Date:  2019-06-03

Review 2.  Atypical cystic fibrosis: identification in the primary care setting.

Authors:  Carrie A Schram
Journal:  Can Fam Physician       Date:  2012-12       Impact factor: 3.275

3.  Cystic Fibrosis Diagnosed Using Indigenously Wrapped Sweating Technique: First Large-Scale Study Reporting Socio-Demographic, Clinical, and Laboratory Features among the Children in Bangladesh A Lower Middle Income Country.

Authors:  Arm Luthful Kabir; Sudipta Roy; Rahat Bin Habib; Kazi Selim Anwar; Md Abid Hossain Mollah; Ruhul Amin; Al Amin Mridha; Jasim Uddin Majumder; Md Delwar Hossain; Nazmul Haque; Shakil Ahmed; Mohammod Jobayer Chisti
Journal:  Glob Pediatr Health       Date:  2020-10-30
  3 in total

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