Literature DB >> 16266832

Delayed diagnosis of cystic fibrosis associated with R117H on a background of 7T polythymidine tract at intron 8.

D Peckham1, S P Conway, A Morton, A Jones, K Webb.   

Abstract

We report late diagnoses of cystic fibrosis (CF) in two men aged 61 and 65 years. At the time of presentation, both patients had significant pulmonary disease. In each case two CFTR gene mutations were identified, including R117H on a background of a poly T genotype of 7T/9T. Patients with two identified CFTR mutations which include the R117H/7T anomaly should be followed up routinely as they remain susceptible to severe lung disease.

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Year:  2005        PMID： 16266832     DOI： 10.1016/j.jcf.2005.09.009

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


  6 in total

1.  Cystic Fibrosis Foundation practice guidelines for the management of infants with cystic fibrosis transmembrane conductance regulator-related metabolic syndrome during the first two years of life and beyond.

Authors:  Drucy Borowitz; Richard B Parad; Jack K Sharp; Kathryn A Sabadosa; Karen A Robinson; Michael J Rock; Philip M Farrell; Marci K Sontag; Margaret Rosenfeld; Stephanie D Davis; Bruce C Marshall; Frank J Accurso
Journal:  J Pediatr       Date:  2009-12       Impact factor: 4.406

2.  Efficacy and safety of ivacaftor in patients with cystic fibrosis who have an Arg117His-CFTR mutation: a double-blind, randomised controlled trial.

Authors:  Richard B Moss; Patrick A Flume; J Stuart Elborn; Jon Cooke; Steven M Rowe; Susanna A McColley; Ronald C Rubenstein; Mark Higgins
Journal:  Lancet Respir Med       Date:  2015-06-09       Impact factor: 30.700

3.  Exophiala dermatitidis Revealing Cystic Fibrosis in Adult Patients with Chronic Pulmonary Disease.

Authors:  Frédéric Grenouillet; Bernard Cimon; Heloise Pana-Katatali; Christine Person; Marie Gainet-Brun; Marie-Claire Malinge; Yohann Le Govic; Bénédicte Richaud-Thiriez; Jean-Philippe Bouchara
Journal:  Mycopathologia       Date:  2017-11-01       Impact factor: 2.574

4.  Assessment of Correlation between Sweat Chloride Levels and Clinical Features of Cystic Fibrosis Patients.

Authors:  Manzoor A Raina; Mosin S Khan; Showkat A Malik; Ab Hameed Raina; Mudassir J Makhdoomi; Javed I Bhat; Syed Mudassar
Journal:  J Clin Diagn Res       Date:  2016-12-01

Review 5.  Consensus on the use and interpretation of cystic fibrosis mutation analysis in clinical practice.

Authors:  C Castellani; H Cuppens; M Macek; J J Cassiman; E Kerem; P Durie; E Tullis; B M Assael; C Bombieri; A Brown; T Casals; M Claustres; G R Cutting; E Dequeker; J Dodge; I Doull; P Farrell; C Ferec; E Girodon; M Johannesson; B Kerem; M Knowles; A Munck; P F Pignatti; D Radojkovic; P Rizzotti; M Schwarz; M Stuhrmann; M Tzetis; J Zielenski; J S Elborn
Journal:  J Cyst Fibros       Date:  2008-05       Impact factor: 5.482

Review 6.  Cystic fibrosis.

Authors:  Felix Ratjen; Scott C Bell; Steven M Rowe; Christopher H Goss; Alexandra L Quittner; Andrew Bush
Journal:  Nat Rev Dis Primers       Date:  2015-05-14       Impact factor: 52.329
  6 in total

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