title: The clinical course of a Mexican female with cystic fibrosis and the novel genotype S531P/S531P.
abstract: The case of a 16 year-old Mexican female with cystic fibrosis and the novel genotype S531P/S531P is presented. Her clinical course has consisted of recurrent pancreatitis and rapidly progressive lung disease complicated by Mycobacterium kansasii and Penicillium infection. This report illustrates the need for better characterization of CFTR mutations in a Hispanic population to aid in clinical care.
authors.affiliation: Department of Pediatrics, University of Colorado School of Medicine and The Children's Hospital, 13123 E. 16th Ave, B-395, Aurora, CO 80045, USA. laguna.theresa@tchden.org
authors.forename: Theresa A
authors.initials: TA
authors.lastname: Laguna
authors.forename: Scott D
authors.initials: SD
authors.lastname: Sagel
authors.forename: Marci K
authors.initials: MK
authors.lastname: Sontag
authors.forename: Frank J
authors.initials: FJ
authors.lastname: Accurso
mesh_terms: D000293:Adolescent; D000483:Alleles; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008800:Mexico; D009154:Mutation