Familial mediterranean fever: association of elevated IgD plasma levels with specific MEFV mutations

Familial Mediterranean fever [FMF] is a recessively inherited disorder. Some FMF patients present high IgD serum levels, and it is not yet known whether such an elevation is related to specific genotypes or correlated with a specific phenotype. The objective of this study is to evaluate the association between known FMF-related mutations and IgD levels in confirmed patients, as well as the correlation between those levels and the presence of specific clinical signs. Genotypic analysis and IgD plasma measurements were performed for 83 Syrian FMF patients. Most common mutational patterns were M694V heterozygotes [26%] and homozygotes [24%], and V726A heterozygotes [5%] and homozygotes [2%], and combining both mutations [17%]. Nine patients had elevated IgD levels [higher than 100 microg/ml]. The risk for high IgD levels was significantly associated with M694V homozygous status [OR=2] but not with heterozygous status [OR-1]. Similarly, the risk for high IgD was also found with V726A homozygotes [OR=9.5] but not with heterozygotes [OR=1.05]. Clinically, hyper IgD was also found significantly associated with arthritis [OR=18]. Homozygous status for M694V, and to a lesser extent V726A, is associated with an increased risk for higher IgD plasma levels. Elevated IgD plasma levels are also correlated with the severity of FMF manifestations, and especially with arthritis

Useful biochemical markers for the identification of bone turnover and the evaluation of ICTP as a new bone resorptive marker in hemodialysis patients

Chronic renal failure is often associated with several bone disorders. In this study, the serum levels of iPTH and a panel of bone formation and resorption markers with a new applied resorptive marker, ICTP, the carboxyterminal telopeptide region of type I collagen, were evaluated in chronic renal failure patients undergoing hemodialysis. A group of 83 patients was divided into 2 subgroups according to serum iPTH levels. The two categories were: iPTH less than 100pg/mL [42 patients, mean age 51.9 +/- 12.3 years, 19males, 23females], and iPTH levels above 200pg/mL [41 patients, mean age 47.34 +/- 16.95 years, 22 males, 19females].In addition, a group of 50 healthy subjects [28 males, 22 females, average age 45.78 +/- 9.9years] was chosen as a control group. Calcium phosphorus, urea, creatinine, and tALP were measured. Intact parathyroid hormone [iPTH], N-Mid Osteocalcin [OC] and BETA-Crosslaps [BETA-CTX], and ICTP were assayed. In both groups of patients, it was found that levels of all bone turnover markers were elevated above normal range compared to the control group. Significant variations were found between the two categories in all biochemical markers [P<0.05], except creatinine, which did not differ significantly between the two subgroups [P=0.17]. The ICTP showed a significant positive correlation with the time on dialysis, iPTH, t-ALP, BETA-CTX and a significant negative correlation with N-Mid OC in both subsets. The results indicate that chronic renal failure patients undergoing hemodialysis may have high-turnover bone disease due to secondary hyperparathyroidism or low-turnover bone disease because of hyperparathyroidism which predisposes to bone loss. The elevated perls of the formation and resorptive markers studied strongly suggest disturbed bone remodeling cycles in addition to malfunction of the osteoblasts and osteoclasts. The ICTP and BETA-CTX markers may be important for studying bone resorption in hemodialysis patients