Relationship between various measures of bone mineral density and vertebral fractures in cardiac transplant recipients.

BACKGROUND: The incidence rates of osteoporosis and fractures are increased after cardiac transplantation. METHODS: We performed a cross-sectional analysis of cardiac transplant recipients in a late post-transplantation period (4.4 [2.5] years after cardiac transplantation, n = 27). We measured bone mineral density (BMD) by DXA at the hip and lumbar spine and by quantitative ultrasound (QUS) at the calcaneus. Vertebral fracture (vfx) prevalence was analysed by anterior-posterior and lateral radiographs of the thoracic and lumbar spine. RESULTS: Overall, vfx were present in 13 of 27 patients (48.2%, n = 51 vfx). Vfx were observed in 1 out of 5 patients with normal DXA results, 7 out of 14 osteopenic and 5 out of 8 osteoporotic cardiac transplant recipients. BMD at the femoral neck and more prominently at Ward's triangle were significantly lower in vfx patients compared to patients without vfx, with adjusted mean values (95% CI) of 0.804 [0.750-0.859] vs. 0.915 [0.860-0.969] g/cm2 and 0.573 [0.501-0.646] vs. 0.766 [0.697-0.836] g/cm2, respectively. CONCLUSIONS: These findings suggest an association between DXA measurements of the hip with vertebral fractures in a late post-transplantation period and thus extend knowledge from previous reports on cardiac transplant recipients studied earlier after CTX. In particular, our data pinpoint a potentially interesting role for BMD at Ward's triangle.

R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis.

Hereditary pancreatitis is due to heterozygosity for gain-of-function mutations in the cationic trypsinogen gene which result in increased levels of active trypsin within pancreatic acinar cells and autodigestion of the pancreas. The number of disease-causing defects is generally considered to be low. To gain further insight into the molecular basis of this disorder, DNA sequence analysis of all five exons was performed in 109 unrelated patients with idiopathic chronic pancreatitis in order to determine the variability of the underlying mutations. Two German females and one German male were carriers of the most common N29I and R122H mutations (trypsinogen numbering system). In a Turkish proband, an arginine (CGT) to cysteine (TGT) substitution at amino acid position 116 was identified. Family screening demonstrated that the patient had inherited the mutation from his asymptomatic father and that he had transmitted it to both of his children, his daughter being symptomatic since the age of 3 years. In addition, a German male was found to be a heterozygote for a D100H (GAC-->CAC) amino acid replacement. Our data provide evidence for genetic heterogeneity of hereditary pancreatitis. The growing number of cationic trypsinogen mutations is expected to change current mutation screening practices for this disease.