Literature DB >> 36278998

[Update on cystic fibrosis : From neonatal screening to causal treatment].

Olaf Sommerburg1,2, Mark Oliver Wielpütz3,4.   

Abstract

Cystic fibrosis (CF) is a multiorgan disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Approximately 90% of the morbidity and mortality are caused by pulmonary involvement. The mean life expectancy of patients with CF in 2020 was more than 52 years in Germany. The introduction of neonatal screening for CF and the development of a causally acting CFTR modulator treatment have clearly improved the prognosis of these patients. As an introduction, this article describes important aspects of CF in this context in order to go into details of the CF neonatal screening which was introduced in Germany in 2016.
© 2022. The Author(s), under exclusive licence to Springer Medizin Verlag GmbH, ein Teil von Springer Nature.

Entities:  

Keywords:  CFTR modulator treatment; Cystic fibrosis; Imaging; Lungs; Multiorgan disease

Year:  2022        PMID: 36278998     DOI: 10.1007/s00117-022-01076-6

Source DB:  PubMed          Journal:  Radiologie (Heidelb)        ISSN: 2731-7048


  37 in total

Review 1.  Guide to bone health and disease in cystic fibrosis.

Authors:  Robert M Aris; Peter A Merkel; Laura K Bachrach; Drucy S Borowitz; Micheal P Boyle; Sarah L Elkin; Theresa A Guise; Dana S Hardin; Charles S Haworth; Michael F Holick; Patricia M Joseph; Kimberly O'Brien; Elizabeth Tullis; Nelson B Watts; Terry B White
Journal:  J Clin Endocrinol Metab       Date:  2004-12-21       Impact factor: 5.958

2.  Magnetic resonance imaging detects changes in structure and perfusion, and response to therapy in early cystic fibrosis lung disease.

Authors:  Mark O Wielpütz; Michael Puderbach; Annette Kopp-Schneider; Mirjam Stahl; Eva Fritzsching; Olaf Sommerburg; Sebastian Ley; Migle Sumkauskaite; Jürgen Biederer; Hans-Ulrich Kauczor; Monika Eichinger; Marcus A Mall
Journal:  Am J Respir Crit Care Med       Date:  2014-04-15       Impact factor: 21.405

Review 3.  Cystic fibrosis genetics: from molecular understanding to clinical application.

Authors:  Garry R Cutting
Journal:  Nat Rev Genet       Date:  2014-11-18       Impact factor: 53.242

Review 4.  Best practice guidance for the diagnosis and management of cystic fibrosis-associated liver disease.

Authors:  Dominique Debray; Deirdre Kelly; Roderick Houwen; Birgitta Strandvik; Carla Colombo
Journal:  J Cyst Fibros       Date:  2011-06       Impact factor: 5.482

5.  Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.

Authors:  J R Riordan; J M Rommens; B Kerem; N Alon; R Rozmahel; Z Grzelczak; J Zielenski; S Lok; N Plavsic; J L Chou
Journal:  Science       Date:  1989-09-08       Impact factor: 47.728

6.  Final results of the southwest German pilot study on cystic fibrosis newborn screening - Evaluation of an IRT/PAP protocol with IRT-dependent safety net.

Authors:  Olaf Sommerburg; Mirjam Stahl; Susanne Hämmerling; Gwendolyn Gramer; Martina U Muckenthaler; Jürgen Okun; Dirk Kohlmüller; Margit Happich; Andreas E Kulozik; Marcus A Mall; Georg F Hoffmann
Journal:  J Cyst Fibros       Date:  2021-11-09       Impact factor: 5.482

7.  Lung disease at diagnosis in infants with cystic fibrosis detected by newborn screening.

Authors:  Peter D Sly; Siobhain Brennan; Catherine Gangell; Nicholas de Klerk; Conor Murray; Lauren Mott; Stephen M Stick; Philip J Robinson; Colin F Robertson; Sarath C Ranganathan
Journal:  Am J Respir Crit Care Med       Date:  2009-04-16       Impact factor: 21.405

8.  Magnetic Resonance Imaging Detects Chronic Rhinosinusitis in Infants and Preschool Children with Cystic Fibrosis.

Authors:  Olaf Sommerburg; Mark O Wielpütz; Jan-Philipp Trame; Felix Wuennemann; Elzbieta Opdazaite; Mirjam Stahl; Michael U Puderbach; Annette Kopp-Schneider; Eva Fritzsching; Hans-Ulrich Kauczor; Ingo Baumann; Marcus A Mall; Monika Eichinger
Journal:  Ann Am Thorac Soc       Date:  2020-06

Review 9.  Intestinal obstruction syndromes in cystic fibrosis: meconium ileus, distal intestinal obstruction syndrome, and constipation.

Authors:  Hubert P J van der Doef; Freddy T M Kokke; Cornelis K van der Ent; Roderick H J Houwen
Journal:  Curr Gastroenterol Rep       Date:  2011-06

10.  Cystic fibrosis-related diabetes: current trends in prevalence, incidence, and mortality.

Authors:  Antoinette Moran; Jordan Dunitz; Brandon Nathan; Asad Saeed; Bonnie Holme; William Thomas
Journal:  Diabetes Care       Date:  2009-06-19       Impact factor: 19.112

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.