García-Alfaro María Dolores, Pérez-Nuñez María Isabel, Amigo María Teresa, Arbona Carmelo, Ballesteros María Ángeles, González-Lamuño Domingo
Department of Orthopaedic Surgery, Hospital Universitario Marqués de Valdecilla, Avda Valdecilla s/n, 39008 Santander, Spain.
Laboratorio de Pediatría, Departamento de Ciencias Médicas y Quirúrgicas, Universidad de Cantabria, Cardenal Herrera Oria s/n, 39011 Santander, Spain.
Children (Basel). 2021 Jul 20;8(7):614. doi: 10.3390/children8070614.
The possible association of common polymorphic variants related to thrombophilia (the rs6025(A) allele encoding the Leiden mutation, rs1799963(A), i.e., the G20210A mutation of the prothrombin gene, the rs1801133(T) variant of the methylenetetrahydrofolate reductase ( gene that encodes an enzyme involved in folate metabolism, and rs5918(C), i.e., the 'A2' allele of the platelet-specific alloantigen system that increases platelet aggregation induced by agonists), with the risk of Legg-Calvé-Perthes disease (LCPD) and the degree of hip involvement (Catterall stages I to IV) was analyzed in a cohort study, including 41 children of ages 2 to 10.9 (mean 5.4, SD 2.2), on the basis of clinical and radiological criteria of LCPD. In 10 of the cases, hip involvement was bilateral; thus, a total of 51 hips were followed-up for a mean of 75.5 months. The distribution of genotypes among patients and 118 controls showed no significant differences, with a slightly increased risk for LCPD in rs6025(A) carriers (OR: 2.9, CI: 0.2-47.8). Regarding the severity of LCPD based on Catterall classification, the rs1801133(T) variant of the gene and the rs5918(C) variant of the platelet glycoprotein IIb/IIIa were associated with more severe forms of Perthes disease (Catterall III-IV) ( < 0.05). The four children homozygous for mutated had a severe form of the disease (Stage IV of Catterall) and a higher risk of non-favorable outcome (Stulberg IV-V).
在一项队列研究中，基于儿童股骨头缺血性坏死（LCPD）的临床和放射学标准，分析了与易栓症相关的常见多态性变体（编码莱顿突变的rs6025(A)等位基因、rs1799963(A)，即凝血酶原基因的G20210A突变、亚甲基四氢叶酸还原酶基因的rs1801133(T)变体，该基因编码一种参与叶酸代谢的酶，以及rs5918(C)，即血小板特异性同种抗原系统的“A2”等位基因，其可增加激动剂诱导的血小板聚集）与LCPD风险及髋关节受累程度（Catterall分期I至IV期）之间的可能关联。该研究纳入了41名年龄在2至10.9岁（平均5.4岁，标准差2.2）的儿童。其中10例患者双侧髋关节受累；因此，共对51个髋关节进行了平均75.5个月的随访。患者和118名对照的基因型分布无显著差异，rs6025(A)携带者患LCPD的风险略有增加（比值比：2.9，置信区间：0.2 - 47.8）。基于Catterall分类的LCPD严重程度方面，该基因的rs1801133(T)变体和血小板糖蛋白IIb/IIIa的rs5918(C)变体与更严重形式的佩特兹病（Catterall III - IV期）相关（P < 0.05）。4名该基因纯合突变的儿童患有严重形式的疾病（Catterall IV期）且预后不良（Stulberg IV - V期）的风险更高。
