%0 Journal Article
%T Bone Mineral Density in Cystic Fibrosis Patients with the CFTR I1234V Mutation in a Large Kindred Family Is Associated with Pancreatic Sufficiency
%A Atqah Abdul Wahab
%A M. Hammoudeh
%A Mona Allangawi
%A Fawziya Al-Khalaf
%A Prem Chandra
%J International Journal of Rheumatology
%D 2014
%I Hindawi Publishing Corporation
%R 10.1155/2014/465395
%X 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£¿¡À£¿4.95 years, ranging from 10 to 33 years. The mean BMD Z scores for patients younger than 21 years were £¿0.69£¿¡À£¿0.96 (lumbar spine = L1¨CL4), £¿0.48£¿¡À£¿0.92 (total hip), and £¿0.38£¿¡À£¿0.86 (total body). The mean T scores for patients 21 years or older were 0.14£¿¡À£¿0.7 (L1¨CL4), 0.38£¿¡À£¿1 (total hip), and 0.52£¿¡À£¿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. 1. Introduction CF is one of the most common inherited diseases among Caucasians [1]. It is caused by mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes a transmembrane glycoprotein [2, 3]. The CF transmembrane conductance regulator has been shown to function as a cyclic adenosine monophosphate- (cAMP-) regulated chloride channel at the apical membrane of epithelial cells [4]. One of the main consequences of mutations in the CFTR gene is a dysfunction of ion channels resulting in elevated sweat chloride concentrations, pancreatic insufficiency, and progressive lung disease [5]. Newly introduced therapies and aggressive management have led to a median expected survival age of 36 years [6]. However, new clinical problems that need to be identified and therapeutically addressed may become evident as the population ages. A number of reports have documented CF-related low BMD in both adults and children with CF [7¨C9]. CF-related bone disease (CFRBD) is multifactorial in etiology, primarily related to imbalanced bone deposition and resorption [10]. Other factors influencing CFRBD include low body mass index, vitamins D and K insufficiency, poor Ca2+ absorption and excessive Ca2+ secretion in the gastrointestinal tract, low levels of insulin-like growth factor 1, chronic bacterial infection with associated
%U http://www.hindawi.com/journals/ijr/2014/465395/