中华小儿外科杂志
中華小兒外科雜誌
중화소인외과잡지
CHINESE JOURNAL OF PEDIATRIC SURGERY
2015年
1期
71-75
,共5页
李玉婵%王志刚%蔡海清%徐蕴岚
李玉嬋%王誌剛%蔡海清%徐蘊嵐
리옥선%왕지강%채해청%서온람
骨软骨瘤%踝关节%胫骨
骨軟骨瘤%踝關節%脛骨
골연골류%과관절%경골
Osteochondroma%Ankle joint%Tibia
目的 遗传性多发性骨软骨瘤是一种与EXT基因突变有关的常染色体显性遗传性疾病,约45％～54％的患儿存在踝关节外翻畸形,本文主要分析和探讨多发性骨软骨瘤患儿产生踝关节外翻的相关因素并介绍其治疗方法.方法 本研究回顾了2008年至2013年我院诊治的62例患儿,其中胫腓骨远端肿瘤累及的患儿有37例,利用PCR及MLPA技术发现有35例(男27例,女8例)有EXT突变基因.这35例中除6例为单侧外,其余均累及双侧,共64个踝关节(左右各32个).根据肿瘤是否累及胫骨骨骺分为两组,第一组骨骺组31例,第二组干骺组33例,再根据肿瘤是否累及腓骨分为2个亚组,A组肿瘤仅累及胫骨,B组肿瘤同时累及胫腓骨.采用胫骨远端外侧角(lateral distal tibial angle,LDTA)及Malhotra分级来评估踝关节外翻的程度并利用SPSS 19.0进行统计学分析肿瘤位置、性别、年龄以及EXT基因与踝关节外翻的关系.结果 骨骺组患儿LDTA明显小于干骺组(P＜0.001),骨骺组内亚组间差异明显(P＜0.05),骨骺组和干骺组病例Malhotra分型有显著性差异(P＜0.001).EXT基因突变类型与肿瘤位置分布无明显差异(P=0.11).回归分析显示性别、EXT基因与LDTA均无相关性(P＞0.05),而在骨骺组,年龄与LDTA轻度相关(R2=0.185,P=0.019).结论 遗传性多发性骨软骨瘤患儿踝关节外翻畸形主要与肿瘤生长的部位有关,而与性别以及突变的基因类型无明显相关.胫骨远端外侧骨骺受累是导致踝关节外翻的主要因素,并且这一畸形随着年龄增长而改变.
目的 遺傳性多髮性骨軟骨瘤是一種與EXT基因突變有關的常染色體顯性遺傳性疾病,約45％～54％的患兒存在踝關節外翻畸形,本文主要分析和探討多髮性骨軟骨瘤患兒產生踝關節外翻的相關因素併介紹其治療方法.方法 本研究迴顧瞭2008年至2013年我院診治的62例患兒,其中脛腓骨遠耑腫瘤纍及的患兒有37例,利用PCR及MLPA技術髮現有35例(男27例,女8例)有EXT突變基因.這35例中除6例為單側外,其餘均纍及雙側,共64箇踝關節(左右各32箇).根據腫瘤是否纍及脛骨骨骺分為兩組,第一組骨骺組31例,第二組榦骺組33例,再根據腫瘤是否纍及腓骨分為2箇亞組,A組腫瘤僅纍及脛骨,B組腫瘤同時纍及脛腓骨.採用脛骨遠耑外側角(lateral distal tibial angle,LDTA)及Malhotra分級來評估踝關節外翻的程度併利用SPSS 19.0進行統計學分析腫瘤位置、性彆、年齡以及EXT基因與踝關節外翻的關繫.結果 骨骺組患兒LDTA明顯小于榦骺組(P＜0.001),骨骺組內亞組間差異明顯(P＜0.05),骨骺組和榦骺組病例Malhotra分型有顯著性差異(P＜0.001).EXT基因突變類型與腫瘤位置分佈無明顯差異(P=0.11).迴歸分析顯示性彆、EXT基因與LDTA均無相關性(P＞0.05),而在骨骺組,年齡與LDTA輕度相關(R2=0.185,P=0.019).結論 遺傳性多髮性骨軟骨瘤患兒踝關節外翻畸形主要與腫瘤生長的部位有關,而與性彆以及突變的基因類型無明顯相關.脛骨遠耑外側骨骺受纍是導緻踝關節外翻的主要因素,併且這一畸形隨著年齡增長而改變.
목적 유전성다발성골연골류시일충여EXT기인돌변유관적상염색체현성유전성질병,약45％～54％적환인존재과관절외번기형,본문주요분석화탐토다발성골연골류환인산생과관절외번적상관인소병개소기치료방법.방법 본연구회고료2008년지2013년아원진치적62례환인,기중경비골원단종류루급적환인유37례,이용PCR급MLPA기술발현유35례(남27례,녀8례)유EXT돌변기인.저35례중제6례위단측외,기여균루급쌍측,공64개과관절(좌우각32개).근거종류시부루급경골골후분위량조,제일조골후조31례,제이조간후조33례,재근거종류시부루급비골분위2개아조,A조종류부루급경골,B조종류동시루급경비골.채용경골원단외측각(lateral distal tibial angle,LDTA)급Malhotra분급래평고과관절외번적정도병이용SPSS 19.0진행통계학분석종류위치、성별、년령이급EXT기인여과관절외번적관계.결과 골후조환인LDTA명현소우간후조(P＜0.001),골후조내아조간차이명현(P＜0.05),골후조화간후조병례Malhotra분형유현저성차이(P＜0.001).EXT기인돌변류형여종류위치분포무명현차이(P=0.11).회귀분석현시성별、EXT기인여LDTA균무상관성(P＞0.05),이재골후조,년령여LDTA경도상관(R2=0.185,P=0.019).결론 유전성다발성골연골류환인과관절외번기형주요여종류생장적부위유관,이여성별이급돌변적기인류형무명현상관.경골원단외측골후수루시도치과관절외번적주요인소,병차저일기형수착년령증장이개변.
Objective To analyze the factors related to ankle valgus in HME and explore its treatments.Methods A total of 62 HME patients treated at our hospital from 2008 to 2013 were recruited.And 37 of them with distal tibia and fibular involvement received genotyping by polymerase chain reaction (PCR) or multiple ligation-dependent probe amplification (MPLA).EXT gene mutation was found in 35 patients (27 boys,8 girls).Six were unilateral and 29 bilateral.A total of 64 ankles were examined (32 left ankles,32 right ankles).Two groups were assigned.There were 31 ankles in group Ⅰ with exostose only involving epiphysis and 33 ankles in group Ⅱ with exostoses at metaphyseal.Each group was further divided into two subgroups.Subgroup A with exostoses involved only tibia and subgroup B involved both.Lateral distal tibial angle (LDTA) and Malhotra classification were evaluated.And the relationship between location,gender,age,genotype and LDTA were analyzed by SPSS 19.0.Results LDTA in group Ⅰ was significantly smaller than that in group Ⅱ (P＜0.001) and significant difference existed between subgroups of group Ⅰ.The Malhotra classification of ankles had a significant inter-group difference (P ＜ 0.001).EXT genotype and location of exostoses had no significant correlation (P =0.11).Regression analysis showed only a weak negative correlation between age and LDTA in group Ⅰ (R2 =0.185,P =0.019).Gender and EXT genotype were not correlated with LDTA in neither group (P ＞ 0.05).Conclusions The location of lesion is a major determinant of valgus deformity of ankle in HME patient.Neither genotype nor gender seems to be correlated with this age progressive deformity.The lateral side of distal epiohvsis of tibia is often involved.
