Journal Information
Vol. 36. Issue 1.
Pages 3-6 (January 2000)
Vol. 36. Issue 1.
Pages 3-6 (January 2000)
Full text access
El diagnóstico de la fibrosis quística en el adulto
Visits
31336
Servicio de Neumología. Hospital Universitario de la Princesa. Madrid
This item has received
Article information
Full text is only aviable in PDF
Bibliografía
[1.]
L. Máiz, y Grupo de Trabajo de Fibrosis Quística de la Sociedad Madrileña de Neumología, Cirugía Torácica.
Estudio epidemiológico de pacientes con fibrosis quística atendidos en la Comunidad Autónoma de Madrid.
Neumomadrid-par, 2 (1999), pp. 13-17
[2.]
L.E. Gibson, R.E. Cooke.
A test for concentration of electrolytes in sweat in cystic fibrosis of the pancreas utilizing pilocarpine by iontophoresis.
Pediatrics, 23 (1959), pp. 545-549
[3.]
J.R. Riordan, J.M. Rommens, B.S. Kerem, N. Alon, R. Rozmahel, Z. Grzelczak, et al.
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
Science, 245 (1989), pp. 1066-1072
[4.]
B.J. Rosenstein, G.R. Cutting.
The diagnosis of cystic fibrosis: a consensus statement.
J Pediatr, 132 (1998), pp. 589-595
[5.]
R.C. Stern.
The diagnosis of cystic fibrosis.
N Engl J Med, 336 (1997), pp. 487-491
[6.]
A. Salcedo, G. García, M.C. Antelo, M.I. Barrio, R.M. Girón.
Diagnóstico de la fibrosis quística.
Neumadrid-par, 2 (1999), pp. 25-33
[7.]
K.H. Gan, W.P. Geus, W. Bakker, C.B.H.W. Lamers, G.M. Heijerman.
Genetic and clinical features of patients with cystic fibrosis diagnosed after the age of 16 years.
Thorax, 50 (1995), pp. 1301-1304
[8.]
J.A. Cohn, K.J. Friedman, P.G. Noone, M.R. Knowles, L.M. Silverman, P.S. Jowell.
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis.
N Engl J Med, 339 (1998), pp. 653-658
[9.]
M. Chillón, T. Casals, B. Mercier, L. Bassas, W. Lissens, S. Silber, et al.
Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens.
N Engl J Med, 332 (1995), pp. 1475-1480
[10.]
P.M. Farrell, R. Koscik.
Sweat chloride concentrations in infants homozygous or heterozygous for F508 cysctic fibrosis.
Pediatrics, 97 (1996), pp. 524-528
[11.]
V.A. LeGrys.
Sweat testing for the diagnosis of cystic fibrosis: practical considerations.
J Pediatr, 129 (1996), pp. 892-897
[12.]
B.J. Rosenstein.
What is a cystic fibrosis diagnosis?.
Clin Chet Med, 19 (1998), pp. 433-441
[13.]
B. Stewart, J. Zabner, A.P. Shuber, M.J. Welsh, P.B. McCray.
Normal sweat chloride values do no exclude the diagnosis of cystic fibrosis.
Am J Respir Crit Care Med, 151 (1995), pp. 899-903
[14.]
W.E. Highsmith, L.H. Burch, Z. Zhou, J.C. Olsen, T.E. Boet, A. Spock, et al.
A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations.
N Engl J Med, 331 (1994), pp. 974-980
[15.]
T.V. Strong, L.S. Smit, S.V. Turpin, J.L. Cole, C.T. Hon, D. Markiewicz, et al.
Cystic fibrosis gene mutation in two sisters with mild disease and normal sweat electrolyte levels.
N Engl J Med, 325 (1991), pp. 1630-1634
[16.]
T. Casals, M.D. Ramos, J. Giménez, S. Larriba, V. Nones, X. Estivill.
High heterogeneity for cystic fibrosis in Spanish families: 75 mutations account for 90% of chromosomes.
Hum Genet, 101 (1997), pp. 365-370
[17.]
The Cystic Fibrosis Genotype-Phenotype Consortium.
Correlation between genotype and phenotype in patients with cystic fibrosis.
N Engl J Med, 329 (1993), pp. 1308-1313
[18.]
C.S. Chu, B.C. Trapnell, S. Curristin, G.R. Cuttieng, R.G. Crystal.
Genetic basis of variable exon 9 skipping in cystic fibrosis transmembrane conductance regulator mRNA.
Nat Genet, 3 (1993), pp. 151-156
[19.]
E. Kerem, N. Rave-Harel, A. Augarten, I. Magdar, M. Nissim-Rafinia, Y. Yahav, et al.
A cystic fibrosis transmembrane conductance regulator splice variant with partial penetrance associated with variable cystic fibrosis presentations.
Am J Respir Crit Care Med, 155 (1997), pp. 1914-1920
[20.]
A. Augarten, B.S. Kerem, Y. Yahav, S. Noiman, Y. Rivlin, A. Tal, et al.
Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 Kb C →T mutation.
Lancet, 342 (1993), pp. 25-26
[21.]
R. Stern, C.F. Doershuk, M. Drumm.
3849 + 10 Kb C →T mutation and disease severity in cystic fibrosis.
Lancet, 346 (1995), pp. 274-276
[22.]
D.H. Dreyfus, R. Bethel, E.W. Gelfand.
Cystic fibrosis 3849 + 10 Kb C →T mutation associated with severe pulmonary disease and male fertility.
Am J Respir Crit Care Med, 153 (1996), pp. 858-860
[23.]
T. Dork, U. Wulbrand, T. Richter, T. Neumann, H. Wolfes, B. Wulf, et al.
Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene.
Hum Genet, 87 (1991), pp. 441-446
[24.]
I. Bronsveld, J. Bijman, F. Mekus, M. Ballmann, H.J. Veeze, B. Tümmler.
Clinical presentation of exclusive cystic fibrosis lung disease.
Thorax, 54 (1999), pp. 278-281
[25.]
D.C. Wilson, L. Ellis, J. Zielenski, M. Corey, W.F. Ip, L.C. Tsui, et al.
Uncertainty in the diagnosis of cystic fibrosis: possible role of in vivo nasal potential difference measurements.
J Pediatr, 132 (1998), pp. 596-599
[26.]
M.R. Knowles, J. Gatzy, R.C. Boucher.
Increased bioelectric potential difference across respiratory epithelia in cystic fibrosis.
N Engl J Med, 305 (1981), pp. 1489-1495
[27.]
P.G. Middleton, D.M. Geddes, E.W.F.W. Alton.
Protocols for in vivo measurements of the ion transport defects in cystic fibrosis nasal epithelium.
Eur Respir J, 7 (1994), pp. 2050-2056
[28.]
I. Fajac, D. Hubert, T. Bienvenu, B. Richaud-Thiriez, R. Matran, J.C. Kaplan, et al.
Relationship between nasal potential difference and respiratory function in adults with cystic fibrosis.
Eur Respir J, 12 (1998), pp. 1295-1300
[29.]
L.P. Ho, J.M. Samways, D.J. Porteous, J.R. Dorin, A. Carothers, A.P. Greening, et al.
Correlation between nasal potential difference measurements genotype and clinical conditions in patients with cystic fibrosis.
Eur Respir J, 10 (1997), pp. 2018-2022
[30.]
T.C. Chinet.
Use of in vivo nasal transepithelial potential difference to evaluate efficacy in CF gene therapy phase I trials.
Eur Respir J, 7 (1994), pp. 1917-1920
[31.]
T. Hofmann, O. Böhmer, G. Hüls, H.G. Terbrack, P. Bittner, V. Klingmüller, et al.
Conventional and modified nasal potential-difference measurement in cystic fibrosis.
Am J Respir Crit Care Med, 155 (1997), pp. 1908-1913
[32.]
O. Duperrex, P.Y. Berclaz, D. Bertrand, J.S. Lacroix, N. Pochon, D. Belli, et al.
A new device for in vivo measurement of nasal transepithelial potential difference in cystic fibrosis patients and normal subjects.
Eur Respir J, 10 (1997), pp. 1631-1636
[33.]
B. Wilcken.
Neonatal screening for cystic fibrosis: it is time.
Pediatr Pulmonol, 26 (1998), pp. 219-221
[34.]
P.M. Farrell, M.R. Kosorok, A. Laxova, G. Shem, R.E. Koscik, W.T. Bruns, et al.
Nutritional benefits of neonatal screening for cystic fibrosis.
N Engl J Med, 337 (1997), pp. 963-969
[35.]
J. Wald, J.H. Morris.
Neonatal screening for cystic fibrosis.
No evidence yet of any benefit. Br Med J, 316 (1998), pp. 404-405
Copyright © 2000. Sociedad Española de Neumología y Cirugía Torácica