Tags

Type your tag names separated by a space and hit enter

[Cystic fibrosis].
Nord Med 1998; 113(10):328-30NM

Abstract

Cystic fibrosis (CF), the most common life-threatening autosomal recessive disorder in Causcasian populations, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7, which encodes a protein that functions as a chloride channel in the apical membrane of epithelial cells. The clinical manifestations comprise recurrent and chronic bronchopulmonary infections, pancreatic insufficiency, and hidrotic salt depletion. Such complications as diabetes, cirrhosis, and respiratory insufficiency develop, resulting in death in the absence of lung transplantation. Treatment is aggressive and comprehensive from the time of diagnosis. Early and intensive treatment of bacterial colonisation and lung infection is correlated with improved prognosis, and monthly follow-up at a CF Centre is mandatory. Mean survival among CF patients at the Danish CF Centre i Copenhagen is more than 40 years. Clinical trials of gene therapy are under way, but results to date have been disappointing.

Authors+Show Affiliations

Klinisk Mikrobiologisk Afd, Rigshospitalet, København.No affiliation info availableNo affiliation info available

Pub Type(s)

English Abstract
Journal Article

Language

dan

PubMed ID

9894407

Citation

Høiby, N, et al. "[Cystic Fibrosis]." Nordisk Medicin, vol. 113, no. 10, 1998, pp. 328-30.
Høiby N, Koch C, Frederiksen B. [Cystic fibrosis]. Nord Med. 1998;113(10):328-30.
Høiby, N., Koch, C., & Frederiksen, B. (1998). [Cystic fibrosis]. Nordisk Medicin, 113(10), pp. 328-30.
Høiby N, Koch C, Frederiksen B. [Cystic Fibrosis]. Nord Med. 1998;113(10):328-30. PubMed PMID: 9894407.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Cystic fibrosis]. AU - Høiby,N, AU - Koch,C, AU - Frederiksen,B, PY - 1999/1/23/pubmed PY - 1999/1/23/medline PY - 1999/1/23/entrez SP - 328 EP - 30 JF - Nordisk medicin JO - Nord Med VL - 113 IS - 10 N2 - Cystic fibrosis (CF), the most common life-threatening autosomal recessive disorder in Causcasian populations, is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene on chromosome 7, which encodes a protein that functions as a chloride channel in the apical membrane of epithelial cells. The clinical manifestations comprise recurrent and chronic bronchopulmonary infections, pancreatic insufficiency, and hidrotic salt depletion. Such complications as diabetes, cirrhosis, and respiratory insufficiency develop, resulting in death in the absence of lung transplantation. Treatment is aggressive and comprehensive from the time of diagnosis. Early and intensive treatment of bacterial colonisation and lung infection is correlated with improved prognosis, and monthly follow-up at a CF Centre is mandatory. Mean survival among CF patients at the Danish CF Centre i Copenhagen is more than 40 years. Clinical trials of gene therapy are under way, but results to date have been disappointing. SN - 0029-1420 UR - https://www.unboundmedicine.com/medline/citation/9894407/[Cystic_fibrosis]_ L2 - http://babysfirsttest.org/newborn-screening/conditions/cystic-fibrosis-cf DB - PRIME DP - Unbound Medicine ER -