The clinical course of a Mexican female with cystic fibrosis and the novel genotype S531P/S531P.
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.
Laguna
Theresa A
TA
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
Sagel
Scott D
SD
Sontag
Marci K
MK
Accurso
Frank J
FJ
D000293:Adolescent; D000483:Alleles; D003550:Cystic Fibrosis / Q000150:complications / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008800:Mexico; D009154:Mutation