The clinical course of a Mexican female with cystic fibrosis and the novel genotype S531P/S531P

Journal of Cystic Fibrosis

Volumn 7, Issue 5, 2008, Pages 454-456

  Laguna, Theresa A ^a,b   Sagel, Scott D ^a,b   Sontag, Marci K ^c   Accurso, Frank J ^a,b  

^a Children's Hospital Colorado   (United States)

^b The Mike McMorris Cystic Fibrosis Research and Treatment Center   (United States)

^c UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

Author keywords

Atypical mycobacteria; Obstructive lung disease; Pancreatitis

Indexed keywords

AMIKACIN; AZITHROMYCIN; ETHAMBUTOL; MICAFUNGIN; MUCOLYTIC AGENT; PANCRELIPASE; PROLINE; RIFAMPICIN; SERINE; TRANSMEMBRANE CONDUCTANCE REGULATOR;

ABDOMINAL PAIN; ADOLESCENT; ARTICLE; BRONCHIECTASIS; CASE REPORT; CLINICAL FEATURE; CYSTIC FIBROSIS; DISEASE COURSE; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; LOW DRUG DOSE; LOW FAT DIET; LUNG INFECTION; LUNG MYCOSIS; MEXICO; MYCOBACTERIOSIS; MYCOBACTERIUM KANSASII; PANCREATITIS; PENICILLIUM;

ADOLESCENT; ALLELES; CYSTIC FIBROSIS; FEMALE; GENOTYPE; HUMANS; MEXICO; MUTATION;

EID: 51549102592     PISSN: 15691993     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jcf.2008.03.008     Document Type: Article

References (14)

1. Welsh M.J., Ramsey B.W., Accurso F.J., and Cutting G.R. Cystic fibrosis. In: Scribers C.R., Beaudet A.L., Valle D., and Sly W.S. (Eds). Metabolic and Molecular Basis of Inherited Disease. 8 Ed. (2001), McGraw Hill, New York 521-588
2. Kristidis P., Bozon D., Corey M., Markiewicz D., Rommens J., Tsui L.C., et al. Genetic determination of exocrine pancreatic function in cystic fibrosis. Am J Hum Genet 50 (1992) 1178-1184
3. Orozco L., Salcedo M., Lezana J.L., et al. Frequency of delta-F508 in a Mexican sample of cystic fibrosis patients. J Med Genet 30 (1993) 501-502
4. Cystic Fibrosis Foundation. Patient Registry Annual Data Report (2005). http://www.cff.org Available from: http://www.cff.org
5. Sontag M.K., Hammond K.B., Zielenski J., Wagener J.S., and Accurso F.J. Two-tiered immunoreactive trypsinogen-based newborn screening for cystic fibrosis in Colorado: screening efficacy and diagnostic outcomes. J Pediatr 147 3 Suppl (2005) S83-S88
6. Schrijver I., Ramalingam S., Sankaran R., Swanson S., Dunlop C.L.M., Keiles S., et al. Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics. J Mol Diagn 7 (2005) 289-299
7. Wong L.C., Wang J., Zhang Y., Hsu E., Heim R., Bowman C.M., et al. Improved detection of CFTR mutations in southern California Hispanic CF patients. Human Mutat 18 (2001) 296-307
8. Orozco L., Velazquez R., Zielenski J., Tsui L.C., Chavez M., Lezana J.L., et al. Spectrum of CFTR mutations in Mexico cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G→A). Hum Genet 106 (2000) 360-365
9. Wang J., Bowman M.C., Hsu E., Wertz K., and Wong L.J. A novel mutation in the CFTR gene correlates with severe clinical phenotype in 7 Hispanic patients. J Med Genet 37 (2000) 215-218
10. Port C.F. The Cystic Fibrosis Foundation. The Diagnosis of Cystic Fibrosis: Consensus Statement vol. VII (1996). http://www.portcf.org Section I. Available from: http://www.portcf.org
11. Pierre-Audigier C., Ferroni A., Sermet-Gaudelus I., Bourgeois M.L., Offredo C., Vu-Thien H., et al. Age-related prevalence and distribution of nontuberculous mycobacterial species among patients with cystic fibrosis. J Clin Microbiol 43 (2005) 3467-3470
12. Shitrit D., Baum G.L., Priess R., Lavy A., Shitrit A.B., Raz M., et al. Pulmonary Mycobacterium kansasii infection in Israel, 1999-2004. Chest 129 (2006) 771-776
13. Yoshikawa S., Tsushima K., Yasuo M., Fujimoto K., Kubo K., Kumagai T., et al. Hypersensitivity pneumonitis caused by Penicillium citrinum, not Enoki spores. Am J Ind Med 50 (2007) 1010-1017
14. Deesomchok A., and Tanprawate S. A 12-case series of Penicillium marneffei pneumonia. J Med Assoc Thai 89 (2006) 441-447