Atypical CF and CF related diseases

Paediatric Respiratory Reviews

Volumn 7, Issue SUPPL. 1, 2006, Pages

  Kerem, Eitan ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

Author keywords

atypical disease; cystic fibrosis; genotyping; nasal potential measurement; normal sweat tests; pancreatic sufficiency

Indexed keywords

CHLORIDE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

AGENESIS; ALKALOSIS; BILIARY CIRRHOSIS; CHRONIC DISEASE; CLINICAL FEATURE; DISEASE COURSE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; GENOTYPE; HUMAN; HYPOCHLOREMIA; INFANCY; LUNG DISEASE; LUNG FIBROSIS; MUTATIONAL ANALYSIS; NOSE POLYP; ONSET AGE; PANCREAS INSUFFICIENCY; PANCREATITIS; PATIENT REFERRAL; PORTAL HYPERTENSION; PRIORITY JOURNAL; RARE DISEASE; RECURRENT DISEASE; REVIEW; SWEAT TEST; SYMPTOMATOLOGY; VAS DEFERENS;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; DIAGNOSIS, DIFFERENTIAL; DNA; HUMANS; LUNG DISEASES, INTERSTITIAL; MUTATION; PANCREATITIS, CHRONIC;

EID: 33745204656     PISSN: 15260542     EISSN: 15260550     Source Type: Journal    
DOI: 10.1016/j.prrv.2006.04.219     Document Type: Review

References (10)

1. Leoni G., Pitzalis S., Podda R., Zanda M., Silvetti M., Caocci L., Cao A., and Rosatelli M.C. A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration. J Pediatr 127 (1995) 281-283
2. Romano L., Minicucci L., Schiaffino M.C., Serravalle P., Diana M.C., and Romano C. Uncommon presenting manifestations of cystic fibrosis: a clinical alert. Paediatr Paedol 30 (1995) 1-7
3. Augarten A., Kerem B., Yahav Y., Noiman S., Rivlin Y., Tal Asher, Blau H., Ben-Tur L., Szeinberg A., Kerem E., and Gazit E. Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C->T mutation. Lancet 342 (1993) 25-26
4. Stewart B., Zabner J., Shuber A.P., Welsh M.J., and McCray P.B. Normal sweat chloride values do not exclude the diagnosis of cystic fibrosis. Am J Respir Crit Care Med 151 (1995) 899-903
5. Rave-Harel N., Madgar I., Goshen R., Nissim-Rafina M., Ziadni A., Rahat A., Chiba O., Kalman Y.M., Brautbar C., Levison D., Augarten A., Kerem E., and Kerem B. CFTR haplotype analysis reveals genetic heterogeneity in the etiology of congenital bilateral aplasia of the vas deferens. Am J Hum Genet 56 (1995) 1359-1366
6. Casals T., Bassas L., Ruiz-Romero J., Chillon M., Gimenez J., Ramos M.D., Tapia G., Narvaez H., Nunes V., and Estivill X. Extensive analysis of 40 infertile patients with congenital absence of the vas deferens: in 50% of cases only one CFTR allele could be detected. Hum Genet 95 (1995) 205-211
7. Chillon M., Casals T., Mercier B., Bassas L., Lissens W., Silber S., Romey M.-C., Ruiz-Romero J., Verlingue C., Claustres M., Nunes V., Ferec C., and Estivill X. Mutations in the cystic fibrosis gene in patients with congenital absence of the vas deferens. New Engl J Med 332 (1995) 1475-1480
8. Jarvi K., Zielenski J., Wilschanski M., Durie P., Buckspan M., Tullis E., Markievicz D., and Tsui L.C. Cystic fibrosis transmembrane conductance regulator and obstructive azospermia. Lancet 345 (1995) 1578
9. Dork T., Wulbrand U., Richter T., Neumann T., Wolfes H., Wulf B., Maab G., and Tummler B. Cystic fibrosis with three mutations in the cystic fibrosis transmembrane conductance regulator gene. Hum Genet 87 (1991) 441-446
10. Kiesewetter S., Macek Jr. M., Davis C., Currustin S.M., Chu C.-S., Graham C., Shrimpton A.E., Cashman S.M., Tsui L.C., Mickle J., Amos J., Highsmith W.E., Shuber A., Witt D.R., Crystal R.G., and Cutting G.R. A mutation in CFTR produces different phenotypes depending on chromosomal background. Nature Genet 5 (1993) 274-278