Literature DB >> 19879513

Physiological measurements confirming the diagnosis of cystic fibrosis: the sweat test and measurements of transepithelial potential difference.

C J Taylor1, J Hardcastle, K W Southern.   

Abstract

Post-natal screening allied with genetic mutation testing has altered our perception of cystic fibrosis (CF) as a clinical entity. Increasingly, infants identified through screening programmes have few or no symptoms or present with atypical forms of the disease. We review how the sweat test has evolved to be the gold standard for confirming the diagnosis of CF and examine its limitations. Other physiological measurements, including nasal potential difference and intestinal current measurement, which might aid in establishing the diagnosis, particularly in patients exhibiting a mild phenotype, are also considered.

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Year:  2009        PMID: 19879513     DOI: 10.1016/j.prrv.2009.05.002

Source DB:  PubMed          Journal:  Paediatr Respir Rev        ISSN: 1526-0542            Impact factor:   2.726


  11 in total

1.  Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.

Authors:  Elinor Langfelder-Schwind; Barbara Karczeski; Michelle N Strecker; Joy Redman; Elaine A Sugarman; Christina Zaleski; Trisha Brown; Steven Keiles; Amy Powers; Sumheda Ghate; Rebecca Darrah
Journal:  J Genet Couns       Date:  2013-09-07       Impact factor: 2.537

Review 2.  The Italian National Centre for Rare Diseases: where research and public health translate into action.

Authors:  Domenica Taruscio; Linda Agresta; Annalisa Amato; Giuseppe Bernardo; Luana Bernardo; Francesca Braguti; Pietro Carbone; Claudio Carta; Marina Ceccarini; Federica Censi; Simona Coppola; Patrizia Crialese; Marta De Santis; Stefano Diemoz; Carlo Donati; Sabina Gainotti; Gianluca Ferrari; Giovanna Floridia; Claudio Frank; Rosa Giuseppa Frazzica; Amalia E Gentile; Orietta Granata; Yllka Kodra; Manuela Latrofa; Paola Laricchiuta; Armando Magrelli; Cristina Morciano; Agata Polizzi; Stefania Razeto; Marco Salvatore; Antonella Sanseverino; Daniele Savini; Paola Torreri; Fabrizio Tosto; Flavia Villani; Giorgio Vincenti; Luciano Vittozzi
Journal:  Blood Transfus       Date:  2014-04       Impact factor: 3.443

3.  Naturally occurring mutations in the canine CFTR gene.

Authors:  Domenico Spadafora; Eleanor C Hawkins; Keith E Murphy; Leigh Anne Clark; Stephen T Ballard
Journal:  Physiol Genomics       Date:  2010-06-22       Impact factor: 3.107

Review 4.  Working Up a Good Sweat - The Challenges of Standardising Sweat Collection for Metabolomics Analysis.

Authors:  Joy N Hussain; Nitin Mantri; Marc M Cohen
Journal:  Clin Biochem Rev       Date:  2017-02

5.  Measurements of CFTR-mediated Cl- secretion in human rectal biopsies constitute a robust biomarker for Cystic Fibrosis diagnosis and prognosis.

Authors:  Marisa Sousa; Maria F Servidoni; Adriana M Vinagre; Anabela S Ramalho; Luciana C Bonadia; Verónica Felício; Maria A Ribeiro; Inna Uliyakina; Fernando A Marson; Arthur Kmit; Silvia R Cardoso; José D Ribeiro; Carmen S Bertuzzo; Lisete Sousa; Karl Kunzelmann; Antônio F Ribeiro; Margarida D Amaral
Journal:  PLoS One       Date:  2012-10-17       Impact factor: 3.240

6.  Evaluation of continuous constant current and continuous pulsed current in sweat induction for cystic fibrosis diagnosis.

Authors:  Carla Cristina Souza Gomez; Fernando Augusto Lima Marson; Maria Fátima Servidoni; Antônio Fernando Ribeiro; Maria Ângela Gonçalves Oliveira Ribeiro; Veruska Acioli Lopes Gama; Eduardo Tavares Costa; José Dirceu Ribeiro; Francisco Ubaldo Vieira Junior
Journal:  BMC Pulm Med       Date:  2018-09-14       Impact factor: 3.317

7.  Rectal forceps biopsy procedure in cystic fibrosis: technical aspects and patients perspective for clinical trials feasibility.

Authors:  Maria F Servidoni; Marisa Sousa; Adriana M Vinagre; Silvia R Cardoso; Maria A Ribeiro; Luciana R Meirelles; Rita B de Carvalho; Karl Kunzelmann; Antônio F Ribeiro; José D Ribeiro; Margarida D Amaral
Journal:  BMC Gastroenterol       Date:  2013-05-20       Impact factor: 3.067

8.  Synchronization modulation increases transepithelial potentials in MDCK monolayers through Na/K pumps.

Authors:  Vu Tran; Xiaodong Zhang; Lin Cao; Hanqing Li; Benjamin Lee; Michelle So; Yaohui Sun; Wei Chen; Min Zhao
Journal:  PLoS One       Date:  2013-04-09       Impact factor: 3.240

9.  Pulsed direct and constant direct currents in the pilocarpine iontophoresis sweat chloride test.

Authors:  Carla Cristina Souza Gomez; Maria de Fatima Servidoni; Fernando Augusto de Lima Marson; Paulo Jose Coelho Canavezi; Adriana Mendes Vinagre; Eduardo Tavares Costa; Antonio Fernando Ribeiro; Maria Angela Gonçalves de Oliveira Ribeiro; Adyleia Aparecida Dalbo Contrera Toro; Celia Regina Pavan; Michelle Vivine Sá Dos Santos Rondon; Sonia Leticia Silva Lorena; Francisco Ubaldi Vieria; Jose Dirceu Ribeiro
Journal:  BMC Pulm Med       Date:  2014-12-13       Impact factor: 3.317

10.  Repeatability and Diagnostic Value of Nasal Potential Difference in a Genetically Admixed Population.

Authors:  Izabela Rocha Sad; Laurinda Yoko Shinzato Higa; Teresinha Leal; Raisa da Silva Martins; Ana Claudia de Almeida; Eloane Goncalves Ramos; Giselda Maria Kalil de Cabello; Maria Virginia Marques Peixoto
Journal:  J Clin Med Res       Date:  2015-12-03
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