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

الملخص EN

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.