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International Journal of Rheumatology
Volume 2014, Article ID 465395, 6 pages
Research Article

Bone Mineral Density in Cystic Fibrosis Patients with the CFTR I1234V Mutation in a Large Kindred Family Is Associated with Pancreatic Sufficiency

1Department of Pediatrics, Hamad Medical Corporation, Doha, Qatar
2Weill Cornell Medical College, P.O. Box 3050, Doha, Qatar
3Department of Internal Medicine, Hamad Medical Corporation, Doha, Qatar
4Medical Research Center, Hamad Medical Corporation, Doha, Qatar

Received 12 March 2014; Revised 3 June 2014; Accepted 15 June 2014; Published 30 June 2014

Academic Editor: Luis R. Espinoza

Copyright © 2014 Atqah Abdul Wahab et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Objectives. To study bone mineral density (BMD) in cystic fibrosis (CF) children and adults with the CFTR I1234V mutation associated with pancreatic sufficiency. Methods. Lumbar spine, total hip, and whole-body mineral density were measured by dual-energy radiographic absorptiometry (DEXA) scan. Z score was used for those less than 21 years and T score was used for those 21 years or older. Results. Twenty-one CF patients were younger than 21 years and 5 CF patients were 21 years or older. Mean age was 17.29 ± 4.95 years, ranging from 10 to 33 years. The mean BMD Z scores for patients younger than 21 years were −0.69 ± 0.96 (lumbar spine = L1–L4), −0.48 ± 0.92 (total hip), and −0.38 ± 0.86 (total body). The mean T scores for patients 21 years or older were 0.14 ± 0.7 (L1–L4), 0.38 ± 1 (total hip), and 0.52 ± 1.03 (total body). BMD reduction less than −1 was found in 7 (26.9%) CF patients. Vitamin D deficiency in 20 CF patients (76.9%) tended to be lower in CF patients with low BMD. BMD was significantly correlated with FEV1; however, no significant association was observed with P. aeruginosa colonization. Conclusion. BMD reduction does occur in patients with mild CFTR mutation associated with pancreatic sufficiency.