CAJ | 학술논문

目的：探讨Kozlowski型脊椎干骺端发育不良（SMDK）的临床特点及诊断。方法分析1例SMDK患者的临床特点、实验室检查及基因诊断，并复习相关文献。结果男性患儿8岁，病程6年余，临床表现为四肢指趾短粗，髋内翻畸形，膝外翻畸形，脊柱侧弯且前凸过度，严重的干骺端改变，TRPV4、NXX3-2基因杂合突变。结论典型的临床特征辅以基因诊断有助于及早发现和准确诊断SMDK。
목적：탐토Kozlowski형척추간후단발육불량（SMDK）적림상특점급진단。방법분석1례SMDK환자적림상특점、실험실검사급기인진단，병복습상관문헌。결과남성환인8세，병정6년여，림상표현위사지지지단조，관내번기형，슬외번기형，척주측만차전철과도，엄중적간후단개변，TRPV4、NXX3-2기인잡합돌변。결론전형적림상특정보이기인진단유조우급조발현화준학진단SMDK。
Objective To investigate the clinical characteristics and diagnostics of Kozlowski type spondylometaphyseal dysplasia (SMDK). Methods The clinical features, laboratory tests and genetic testing of one SMDK case were analyzed. Re-sults A eight-year-old male patient had more than 6 years course of disease. The clinical manifestations were stubby limbs, ifn-gers and toes, varus deformity, knee valgus deformity, scoliosis and lordosis and severe metaphyseal changes. The heterozygous mutations were detected in TRPV4 and NXX3-2 genes. Conclusions Typical clinical features combined with genetic diagnosis facilitate early detection and accurate diagnosis of SMDK.