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

J Cyst Fibros. 2008 Sep;7(5):454-6. doi: 10.1016/j.jcf.2008.03.008. Epub 2008 May 6.

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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Alleles
  • Cystic Fibrosis / complications
  • Cystic Fibrosis / genetics*
  • Female
  • Genotype
  • Humans
  • Mexico
  • Mutation