• The Journal of infection · Jun 2012

    Case Reports

    Pulmonary Mycobacterium abscessus: a canary in the cystic fibrosis coalmine.

    • Margje H Haverkamp, Annelies van Wengen, Adriëtte W de Visser, Klaas W van Kralingen, Jaap T van Dissel, and Esther van de Vosse.
    • Department of Infectious Diseases, Leiden University Medical Center, Albinusdreef 2, Leiden, The Netherlands. M.H.Haverkamp@lumc.nl
    • J. Infect. 2012 Jun 1; 64 (6): 609-12.

    AbstractWe present a case of pulmonary nontuberculous mycobacterial infection (PNTM) with M. abscessus. After exclusion of genetic immune disorders known to cause NTM susceptibility, we found compound heterozygosity of two mutations, F508del and R117H in CFTR. The combination of F508del with a hypomorphic CFTR mutation can cause a mild Cystic Fibrosis (CF) phenotype with delayed CF symptoms in adulthood. Although the patient was continuously treated for her lung infection by different physicians for more than twenty years, the diagnosis CF had been missed. The forme fruste of CF should be considered in the analysis of host factors predisposing for PNTM.Copyright © 2012 The British Infection Association. Published by Elsevier Ltd. All rights reserved.

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