The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.

Few mutations in cis have been annotated for F508del homozygous patients. Southern Italy patients who at a first analysis appeared homozygous for the F508del mutation (n=63) or compound heterozygous for the F508del and another mutation in the cystic fibrosis transmembrane conductance regulator gene (n=155) were searched for the A238V mutation in exon 6. The allelic frequency of the complex allele [A238V;F508del] was 0.

Hypervitaminosis D: case report of pediatric osteoporosis secondary to cystic fibrosis.

The objective of the study is to evaluate alterations of bone metabolism in adolescence and adult CF, determining the rate of osteoporosis, osteopenia and vertebral and non-vertebral fractures. We took into account the clinical case of a child who right from the age of seven years has presented joint pain.The little girl was diagnosed with osteopenia taken with therapy of calcium and vitamin D; after few years despite treatment nephrocalcinosis and osteoporosis take over.