Osteokondrodisplazilerde serum C-tip natriüretik peptid plazma düzeyi
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Tarih
2018
Yazarlar
Dergi Başlığı
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Cilt Başlığı
Yayıncı
Ege Üniversitesi, Tıp Fakültesi
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
İskelet displazisi; anormal enkondral osifikasyon ile giden, heterojen bir hastalık grubu olup tiplendirmesi oldukça karmaşıktır. Natriüretik peptid ailesinden, C-tip natriüretik peptid (CNP)'nin kemik gelişiminde rol oynadığı gösterilmiştir. İskelet displazi tiplerinden bazılarında CNP düzeyleri yüksek bulunmuştur. Bu çalışmada amaç, kemik gelişiminde etkin olan CNP'nin iskelet displazi tipleri için belirteç olarak kullanılabilme olasılığını değerlendirmek, tiplendirmesini sağlamada rolünü araştırmaktır. Yaşları 0,5-18 yaş olan 75 iskelet displazili hastadan katılmayı kabul eden 37 hasta çalışmaya alındı. Olguların öyküleri alınarak,fizik bakı ve antropometrik ölçümleri yapıldı, kemik surveyleri değerlendirildi. Yaş grupları benzer, 49 sağlıklı çocuk kontrol grubunu oluşturuldu. Hasta ve kontrol grubunda plazmada CNP (ng/ml) ELISA yöntemi ile çalışıldı. Hasta grubun 11'i kız (%29,7), 26'sı erkek (%70,3); sağlıklı grubun 24'ü kız (%48,9), 25'i erkek (%51,1) idi. Hasta grubu; akondroplazili 17 (% 45,9), spondiloepifiziyal displazili 6 (%16,2), metafizyel displazili 5 (%13,5), epifizyel displazili 2 (%5,4), hipokondroplazili 2 (%5,4), akromezomelik displazili 1 (%2,7) ve sınıflandırılması yapılamayan 4 (%10,8) olgudan oluşmakta idi. Sonuçlar; hasta grubunun boy SDS değeri; -4,58±2,87 (n=37), sağlıklı grupta 0,05±0,79 (n=49) saptanmıştır (p<0,05). Hastalarda CNP konsantrasyonu ortanca değeri ile sağlıklı grubun ortanca değeri benzer bulundu (p=0,20). Sağlıklı grup (n=49) ile hasta grupta yer alan akondroplazi hastalarının (n=17) CNP konsantrasyon ortanca değeri, sağlıklı gruba oranla daha yüksek idi (p=0,032). Tüm katılımcılarda (erkek=51; kız=35 ) cinsiyetler arasında CNP konsantrasyonu ortancaları arasında anlamlı bir fark saptanmadı (p=0,082). Hasta grupta klinik tanılara göre CNP değeri akondroplazili hasta grubunda yüksek olmasına karşın; diğer iskelet displazili hastalarının sayısı yetersiz olduğundan, o grupta istatistiksel değerlendirme yapılamadı. Sonuç: CNP tüm iskelet displazilerinin tanı ve tiplendirmesinde kullanılabilir bir belirteçtir demek için; daha çok sayıda olgunun olduğu ve diğer moleküler genetik analizlerinin de yapıldığı çalışmalara gereksinim vardır.
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.
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.
Açıklama
Anahtar Kelimeler
İskelet Displazisi, C-Tip Natriüretik Peptid, Akondroplazi, Skeletal Dysplasia, C-type Natriuretic Peptide, Achondroplasia
