PLASMA C-TYPE NATRIURETIC PEPTIDE LEVEL IN OSTEOCHONDRODYSPLASIA CASES
Project no. 169 · Status: Kapanmış · 2018
Summary
Skeletal dysplasia is a heterogeneous group of disease, leading to abnormal enchondral ossification and typing is quite complex. C-type natriuretic peptide (CNP), one of the members of the natriuretic peptide family, has been implicated to play a role in bone development. CNP levels were high in some types of the skeletal dysplasia. The aim of this study is to evaluate the possibility of using CNP, which is effective in bone development, as a marker for skeletal dysplasia types and to investigate its role in typing. Participants were thirty-seven patients [ages 6 months to 18 years (26 girls, 11 boys)], who accepted to participate in the study from 75 skeletal dysplasia patients. All subjects were physically examined and anthropometric measurements were obtained, bone surveys were evaluated. A control group of 49 healthy children [ages 6 months to 18 years (24 girls, 25 boys)], was included. ELISA method was used to assess CNP (ng/ml) plasma levels. The patient group consisted of 17 patients (45,9%) with achondroplasia, 6 patients (16,2%) with spondyloepiphysial dysplasia , 5 patients (13,5%) with metaphysical dysplasia, 2 patients (5,4%) with epiphysial dysplasia, 2 patients (5,4%) with hypochondroplasia, one patient with acromesomelic dysplasia (2,7%) and 4 patients (10,8%) with unclassified skeletal dysplasia. Results: The SD scores (SDS) of the patient group was -4,58 ± 2,87 (n=37) and 0,05 ± 0,79 (n=49) in the healthy group (p<0,05). The median level of CNP concentration of patients was similar to the median level of healthy group (p=0,20). CNP concentration median value of healthy group (n=49) and achondroplasia patients (n=17) was higher than healthy group (p=0,032). There was no significant difference between CNP concentration medians of all the participants (male=51; female=35) (p=0,082). Although CNP value was higher in patients with achondroplasia according to clinical diagnosis in the patient group, as the number of other skeletal dysplasia patients was insufficient, statistical evaluation was not possible. Conclusion: Patient with achondroplasia has elevated plasma levels of CNP. In order to use CNP as a marker for diagnosing and typing all skeletal dysplasia, more clinical studies with molecular genetic analyzes are needed. Key Words: Skeletal Dysplasia, C-type Natriuretic Peptide, Achondroplasia