What and when to collect from infants with cystic fibrosis

Doull, Lolo
October 2007
Archives of Disease in Childhood;Oct2007, Vol. 92 Issue 10, p831
Academic Journal
The article presents two studies which examine cystic fibrosis (CF) in children. The first study assesses CF through newborn screening, where developmental disabilities were found to be dependent on genotype while the second study evaluates the value of flexible bronchoscopy in obtaining bronchoalveolar lavage. These studies had revealed that CF is caused by mutations within the gene encoding of the protein cystic fibrosis transmembrane conductance regulator and had discovered that a hierarchy of disease is associated with different genotypes. Moreover, it was suggested that children with CF should have exocrine pancreatic function and children with pancreatic insufficient should be commenced on pancreatic enzyme replacement therapy.


Related Articles

  • When good CF tests go bad. Devitt, Trudi Mc; Barton, David // European Journal of Human Genetics;Apr2009, Vol. 17 Issue 4, p403 

    In this article the authors discuss the importance of confirming the genotype of an index case in cystic fibrosis (CF) diagnostics, as reflected in two cases described by M. Stuhrmann and colleagues. They remark that the cases validate the relevant recommendations in published CF genetic testing...

  • Newborn screening for cystic fibrosis: Polish 4 years' experience with CFTR sequencing strategy. Sobczyńska-Tomaszewska, Agnieszka; Ołtarzewski, Mariusz; Czerska, Kamila; Wertheim-Tysarowska, Katarzyna; Sands, Dorota; Walkowiak, Jarosław; Bal, Jerzy; Mazurczak, Tadeusz // European Journal of Human Genetics;Apr2013, Vol. 21 Issue 4, p391 

    Newborn screening for cystic fibrosis (NBS CF) in Poland was started in September 2006. Summary from 4 years' experience is presented in this study. The immunoreactive trypsin/DNA sequencing strategy was implemented. The group of 1 212 487 newborns were screened for cystic fibrosis during the...

  • Pancreatic phenotype in infants with cystic fibrosis identified by mutation screening. Cipolli, Marco; Castellani, Carlo; Wilcken, Bridget; Massie, John; McKay, Karen; Gruca, Margie; Tamanini, Anna; Assael, Maurice Baroukh; Gaskin, Kevin // Archives of Disease in Childhood;Oct2007, Vol. 92 Issue 10, p842 

    Objective: To determine the pancreatic phenotype of infants with cystic fibrosis (CF) diagnosed in the first week of life by a combined immunoreactive trypsin/mutation screening program. Design: A prospective evaluation of pancreatic function in infants with CF at the time of neonatal diagnosis...

  • Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. Neumann, Thomas E.; Allanson, Judith; Kavamura, Ines; Kerr, Bronwyn; Neri, Giovanni; Noonan, Jacqueline; Cordeddu, Viviana; Gibson, Kate; Tzschach, Andreas; Krüger, Gabriele; Hoeltzenbein, Maria; Goecke, Timm O.; Kehl, Hans Gerd; Albrecht, Beate; Luczak, Klaudiusz; Sasiadek, Maria M; Musante, Luciana; Laurie, Rohan; Peters, Hartmut; Tartaglia, Marco // European Journal of Human Genetics;Apr2009, Vol. 17 Issue 4, p420 

    Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS) are related developmental disorders caused by mutations in genes encoding various components of the RAS-MAPK signaling cascade. NS is associated with mutations in the genes PTPN11, SOS1, RAF1, or KRAS, whereas CFCS can be caused by...

  • Testing the parents to confirm genotypes of CF patients is highly recommended: report of two cases. Stuhrmann, Manfred; Brakensiek, Kai; Argyriou, Loukas; Boehm, Ingolf; Hinderhofer, Katrin; Bauer, Ingrid; Rhode, Britta M; Maelzer, Madeleine; Zuehlke, Christine; Krueger, Gabriele; Schmidtke, Joerg // European Journal of Human Genetics;Apr2009, Vol. 17 Issue 4, p417 

    The article presents two cases that promote the need to assign the parental alleles, particularly in the context of prenatal diagnosis of cystic fibrosis (CF) or carrier testing. The cases involve a newborn Turkish girl and an almost 2-year-old girl, both were diagnosed with CF. Moreover, the...

  • Therapeutic Flexible Bronchoscopy in Child with Cystic Fibrosis. Selimovic, Amina; Mujicic, Ermina // Acta Informatica Medica;2006, Vol. 14 Issue 1, p32 

    The report deals with the case of a 10-year-old girl with chronic cystic fibrosis. She has been repeatedly treated at the hospital. She has been hospitalized due to respiratory deterioration. Cystic fibrosis is a rare disease, inherited autosomaly recessively, but is very complex in terms of...

  • The Glycobiology of Cystic Fibrosis. Rhim, A. D.; Stoykova, L. I.; Park, P. J.; Scanlin, T. F.; Glick, M. C. // Current Organic Chemistry;Mar2004, Vol. 8 Issue 5, p385 

    Cystic fibrosis (CF), the most common lethal genetic disease of Caucasians, is characterized by pathology to the exocrine organs, especially the lungs which are the site of most of the morbidity and mortality of the disease. The gene causing CF was defined more than a decade ago and a deletion...

  • Cystic fibrosis transmembrane conductance regulator gene mutations and glutathione S-transferase null genotypes in cystic fibrosis patients in Brazil. Lima, Carmen Silvia Passos; Ortega, Manoela Marques; Marson, Fernando Augusto Lima; Zulli, Roberto; Ribeiro, Antônio Fernando; Bertuzzo, Carmen Silvia // Jornal Brasileiro de Pneumologia;jan2012, Vol. 38 Issue 1, p50 

    Objective: To determine the effects that mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and deletion of the glutathione S-transferase (GST) genes mu-1 (GSTM1) and theta-1 (GSTT1) have on the clinical course of cystic fibrosis (CF) in patients residing in the...

  • Screening of CFTR mutations in an isolated population: identification of carriers and patients. Chiba-Falek, Ornit; Nissim-Rafinia, Malka; Argaman, Zvi; Genem, Adnan; Moran, Ilana; Kerem, Eitan; Kerem, Batsheva // European Journal of Human Genetics;Mar1998, Vol. 6 Issue 2, p181 

    One important application of the identification of disease-causing mutations is carrier screening in the general population. Such a project requires a simple accurate test by which a large proportion of the mutations can be identified. This study describes screening for CFTR mutations in an...


Read the Article

Other Topics