本期目录:
1、非骨水泥钽金属胫骨平台假体用于小于60岁患者的全膝关节置换术:平均10年的随访结果
2、全髋关节置换术后通过Budin位和头颈干角技术测量股骨假体扭转角的比较研究
3、短柄全髋关节置换术后髋关节旋转对股骨偏心距的影响
4、不稳定股骨头骺滑脱的治疗的对照治疗:关节内楔形截骨术或原位内固定
5、 常染色体显性多发骨骺发育不良;常染色体隐性多发骨骺发育不良;迟发性X染色体连锁脊椎骨骺发育不良
6、髋关节发育不良:基于多中心大样本关节镜患者的相关发现及治疗措施的分析
7、术后即刻MRI检查明确髋关节切开或闭合复位治疗效果
第一部分:关节置换相关文献
文献1
非骨水泥钽金属胫骨平台假体用于小于60岁患者的全膝关节置换术:平均10年的随访结果
译者:张轶超
背景:尽管我们很担心非骨水泥全膝置换术中胫骨假体的松动问题,但由于其具有骨长入及更多的保留骨量的优势,因此更适合应用在年轻患者身上。但目前非骨水泥假体应用的中长期结果还很少。既往我们报道过在年龄小于60岁的患者中应用多孔钽金属非骨水泥假体的5年的效果。本研究是报告以上这些患者10年时的临床及影像学生存率。
方法:本研究中包括79名(96膝)手术时年龄小于60岁的患者。所有手术均由一位经验丰富的医生在一个医疗中心完成,都使用的是非骨水泥、后稳定型、多孔钽金属胫骨平台假体。随访并记录膝关节协会评分(KSS),放射学情况及并发症或翻修情况。
结果:在最后随访时,79名(96膝的74%)患者中有76%(60名患者)的被评估或做了翻修手术(n=6);7名患者死亡,12名失访。平均随访10年(从8年到12年)。影像学上无渐进性的透亮线表现。平均的KSS功能评分为68分(0到100分)。所有翻修病例均与胫骨固定无关:股骨假体松动(1例),关节僵直(1例),疼痛和肿胀(2例),关节不稳(2例)。翻修率为6%。
结论:术后随访10年,非骨水泥多孔钽金属胫骨假体具有可靠的固定,好的影像学表现及良好的功能。没有假体松动。从临床和影像学结果显示非骨水泥假体使用结果良好。这种假体可以通过骨长入和人体骨形成一个整体,使用寿命长,适合应用于年轻患者。
Uncemented Tantalum Monoblock Tibial Fixation for Total Knee Arthroplasty in Patients LessThan 60 Years of Age: Mean 10-Year Follow-up
BACKGROUND: Although tibial component loosening has been considered a concern after total knee arthroplasty without cement, such implants have been used in younger patients because of the potential for ingrowth and preservation of bone stock. However, mid-term and long-term studies of modern uncemented implants are lacking. We previously reported promising prospective 5-year outcomes after using an uncemented porous tantalum tibial component in patients who underwent surgery before the age of 60 years. The purpose of this study was to determine clinical and radiographic implant survivorship at 10 years in this large series of young patients.
METHODS: The original cohort included 79 patients (96 knees) who were <60 years old at the time of surgery. All procedures were performed with an uncemented, posterior-stabilized femoral component and a porous tantalum monoblock tibial component by 1 high-volume arthroplasty surgeon at a single institution. Patients were followed prospectively. The Knee Society Score (KSS), radiographic findings, and any complications or revisions were recorded.
RESULTS: At the latest follow-up, 76% (60) of the 79 patients (74% [71] of the 96 knees) were available for evaluation or had undergone revision (n = 6); 7 patients had died with the implants in place, and 12 patients were lost to follow-up. The average follow-up for the available implants was 10 years (range, 8 to 12 years). There were no progressive radiolucencies on radiographic review. The mean functional KSS was 68 points (range, 0 to 100 points). All revisions were for reasons unrelated to tibial fixation: femoral component loosening (1), stiffness (1), pain and swelling (2), and instability (2). The all-cause revision rate was 6% (6 of 96 knees).
CONCLUSIONS: Uncemented porous tantalum monoblock tibial components provided reliable fixation, excellent radiographic findings, and satisfactory functional outcomes at a mean of 10 years postoperatively. We identified no cases of tibial component loosening. These promising clinical and radiographic results support the use of uncemented tibial components. Such implants may produce well-integrated, durable long-term constructs in young patients.
文献出处:DeFrancesco CJ, Canseco JA, Nelson CL,et al. Uncemented Tantalum Monoblock Tibial Fixation for Total Knee Arthroplasty in Patients LessThan 60 Years of Age: Mean 10-Year Follow-up. J Bone Joint Surg Am. 2018 May 16;100(10):865-870.
文献2
全髋关节置换术后通过Budin位和头颈干角技术测量股骨假体扭转角的比较研究
译者:马云青
背景:正确测量股骨假体前倾角对于全髋关节置换(THA)十分重要。本研究的目的是比较最近发表的一种新的方法即基于前位后位髋关节X线片使用投影后的头-颈-骨干角(AP-CCD)和改良后前位Budin位,分别对股骨假体的前倾角进行测量。
方法:收集30名接受生物型假体置换的全髋术后患者的前后位、改良Budin位和三维CT影像学资料。4名检测人员间隔6周对X线片进行测量并与三维CT结果进行比较。此外,评价放射学资料与三维CT的偏差与患者的特异性特征之间的相关性。
结果:发现APCCD的测量结果与三维CT间比较差异为2.2 ± 6.8°,改良Budin位的差异为0.5 ± 4.2°,两者均有统计学差异(r ¼ 0.78, P < .001 AP CCD, r ¼ 0.84, P< .001 Budin)。同时测量人员间和本人两次对X线资料的测量值(APCCD的相关系数≥0.88,Budin位相关系数≥0.94)和(APCCD平均一致性相关系数≥0.79,Budin位一致性相关系数≥0.86)之间有很好的一致性。
结论:两种X线平片的测量方法均能对髋关节术后股骨假体的扭转进行简单的评估和具有一定的临床实用性。但是,CT检查仍然是准确测量股骨假体扭转角度的金标准。
前后位头颈干角测量方法,由于假体的真实头颈干角是一已知的。通过计算AP CCD与真实假体CCD的比值计算假体扭转(ST)
Budin位测量假体扭转,A为假体头a和颈a‘的连线,B为后髁连线通过两者夹角计算假体扭转(ST)
Radiographic Assessment of Femoral Stem Torsion in Total Hip Arthroplasty-A Comparison of a Caput-Collum-Diaphyseal Angle-Based Technique With the Budin View
Background: Correct assessment of femoral stem torsion is crucial in total hip arthroplasty (THA). In this study, we aimed to compare a recently published novel method based on anteroposterior (AP) hip radiographs using the projected caput-collum-diaphyseal (CCD) angle (AP CCD) with the modified posteroanterior Budin view.
Method: AP radiographs, modified Budin views, and 3-dimensional computed tomography (3D-CT) images were obtained in 30 patients after minimally invasive, cementless THA. Radiographic measurements performed by 4 observers twice in a 6-week interval were compared with 3D-CT measurements. Furthermore, correlations between the radiographic deviation to 3D-CT and patient specific characteristics were evaluated.
Results: We found a mean difference of 2.2 ± 6.8° between AP CCD and 3D-CT measurements of femoral stem torsion and 0.5 ± 4.2° between the modified Budin view and 3D-CT. We found a high correlation between mean radiographic and 3D-CT stem torsion (r ¼ 0.78, P < .001 for AP CCD and r ¼ 0.84, P < .001 for Budin view). The observers had excellent agreements within (intraclass correlation coefficient, ≥0.88 for AP CCD and intraclass correlation coefficient, ≥0.94 for Budin view) and between (mean concordance correlation coefficient, ≥0.79 for AP CCD and concordance correlation coefficient, ≥0.86 for Budin view) their radiographic measurements.
Conclusion: Both radiographic methods enable a simple orientation and a practical conventional radiographic estimation of stem torsion on hip radiographs after THA. However, CT remains the golden standard for exact estimation of stem torsion.
文献出处:Woerner ML, Weber M, Craiovan BS, et al. Radiographic Assessment of Femoral Stem Torsion in Total Hip Arthroplasty-A Comparison of a Caput-Collum-Diaphyseal Angle-Based Technique With the Budin View. J Arthroplasty. 2016 May;31(5):1117-22.
文献3
短柄全髋关节置换术后髋关节旋转对股骨偏心距的影响
译者:张蔷
短柄全髋关节置换手术被认为是一种适合年轻患者的治疗选择。股骨偏心距是公认的全髋术后疗效的重要影响因素之一。然而,学界对于短柄全髋术后股骨偏心距的变化以及功能影响知之甚少。更重要的是,术后髋关节旋转会对投射的股骨偏心距产生影响,进而导致偏心距被低估。因此,我们研究了一组37例(48髋)短柄全髋关节置换病例,并寻找一种全新的方法来准确评估髋关节旋转。我们反复计算测量值,比较测量值的组间及组内可靠性并依据旋转矫正股骨偏心距测量值。因此,我们测出的旋转矫正后的股骨偏心距值是目前研究中准确性最高的,今后的股骨偏心距研究均应进行相应的旋转矫正。
施乐辉Nanos 9号柄
A.术前偏心距测量方法;B.术后假体颈干角测量方法; C.术后偏心距测量方法
髋关节旋转及计算方法: Hiprotation (°) = arcos (tan (180–投射颈干角)/tan (180–真实颈干角)).
Rotation-correctedFO (FO RC) = calibrated FO · (tan (180−投射颈干角)/tan (180–真实颈干角))
髋关节旋转角度(平均值)
nFO:术前偏心距/rotation corrected nFO:旋转矫正的术前偏心距/pFO:术后偏心距/rotation corrected pFO:旋转矫正的术后偏心距
The Influence of Hip Rotation on Femoral Offset Following Short Stem Total Hip Arthroplasty
Short stem total hip arthroplasty (THA) is thought to be an advantageous surgical option for young patients. Femoral offset has been identified as an important factor for clinical outcome of THA. However, little is known on functional implications of femoral offset after short stem THA. Importantly, hip rotation influences the projected femoral offset and may lead to significant underestimation. Therefore, a novel method to identify and account for hip rotation was applied to a prospectively enrolled series of 37 patients (48 radiographs) undergoing short stem THA. Repeated measurements were performed and intraobserver and interobserver reliability was assessed and femoral offset was corrected for rotation. Based on this study, rotation-correction of femoral offset is of highest relevance for the correct interpretation in future studies.
文献出处: Boese CK, Bredow J, Ettinger M, et al. The Influence of Hip Rotation on Femoral Offset Following Short Stem Total Hip Arthroplasty. J Arthroplasty. 2016 Jan;31(1):312-6.
第二部分:保髋相关文献
文献1
不稳定股骨头骺滑脱的治疗的对照治疗:关节内楔形截骨术或原位内固定
译者:罗殿中
我们回顾性对比研究了自1998年至2011年间就诊的不稳定性股骨头骺滑脱患者,共计45名患者(46髋),年龄9-14岁,平均年龄12.6岁。16例接受了关节内楔形截骨术,30例接受了原位内固定术,固定后头骺位置各不相同。关节内截骨组患者均未失随访,平均随访28个月(11-48个月)。原位内固定组有4例患者在术后平均30个月(10-50个月)时失随访。截骨组有4例(25%)患者术后发生股骨头坏死;原位内固定组有11例(42%)发生股骨头坏死。股骨头骺滑脱发生超过13天后进行关节内截骨术的5例患者均未发生股骨头坏死。而在原位内固定组,进行急诊手术的10例患者中有4例发生了股骨头坏死;非急诊手术的15例患者中有4例发生了股骨头坏死;在滑脱发生第二天或第三天进行手术的6例患者中,有4例(6%)发生股骨头坏死。
原位内固定组,在5例完全复位的患者中,4例(80%)发生了股骨头坏死。相比之下,未完全复位的21例患者中有7例(33%)发生了股骨头坏死。完全复位固定患者发生股骨头坏死的概率明显高于关节内楔形截骨患者,差异具有统计学意义(P=0.048)。急诊手术的病例中更易出现完全复位,并与股骨头坏死呈现强相关性(P=0.005)。
非急诊关节内楔形截骨术有助于保护股骨头骺学运,建议在滑脱发生2周后再进行手术治疗。我们应对进行原位内固定的患者进行再次评估,或许急诊开放手术或者延期关节内截骨术是更好的选择。原位内固定术应在滑脱发生至少5天后进行,切记滑脱发生2-3天手术最危险。关节内截骨术应在滑脱发生至少14天后进行。根据我们的经验,闭合复位更容易发生并发症。
关节内楔形截骨术术中“H”形切开关节囊
术中显示截骨端情况
The treatment of an unstable slipped capital femoral epiphysis by either intracapsular cuneiform osteotomy or pinning in situ: a comparative study
We undertook a retrospective comparative study of all patients with an unstable slipped capital femoral epiphysis presenting to a single centre between 1998 and 2011. There were 45 patients (46 hips; mean age 12.6 years; 9 to 14); 16 hips underwent intracapsular cuneiform osteotomy and 30 underwent pinning in situ, with varying degrees of serendipitous reduction. No patient in the osteotomy group was lost to follow-up, which was undertaken at a mean of 28 months (11 to 48); four patients in the pinning in situ group were lost to follow-up, which occurred at a mean of 30 months (10 to 50). Avascular necrosis (AVN) occurred in four hips (25%) following osteotomy and in 11 (42%) following pinning in situ. AVN was not seen in five hips for which osteotomy was undertaken > 13 days after presentation. AVN occurred in four of ten (40%) hips undergoing emergency pinning in situ, compared with four of 15 (47%) undergoing non-emergency pinning. The rate of AVN was 67% (four of six) in those undergoing pinning on the second or third day after presentation. Pinning in situ following complete reduction led to AVN in four out of five cases (80%). In comparison, pinning in situ following incomplete reduction led to AVN in 7 of 21 cases (33%). The rate of development of AVN was significantly higher following pinning in situ with complete reduction than following intracapsular osteotomy (p = 0.048). Complete reduction was more frequent in those treated by emergency pinning and was strongly associated with AVN (p = 0.005). Non-emergency intracapsular osteotomy may have a protective effect on the epiphyseal vasculature and should be undertaken with a delay of at least two weeks. The place of emergency pinning in situ in these patients needs to be re-evaluated, possibly in favour of an emergency open procedure or delayed intracapsular osteotomy. Non-emergency pinning in situ should be undertaken after a delay of at least five days, with the greatest risk at two and three days after presentation. Intracapsular osteotomy should be undertaken after a delay of at least 14 days. In our experience, closed epiphyseal reduction is harmful.
文献出处:Walton RD, Martin E, Wright D, et al. The treatment of an unstable slipped capital femoral epiphysis by either intracapsular cuneiform osteotomy or pinning in situ: a comparative study. Bone Joint J 2015;97-B:412-19.
文献2(合集)
常染色体显性多发骨骺发育不良
译者:程徽
临床特征:常染色体显性多发骨骺发育不良(MED)在儿童早期出现,通常伴有运动后髋部和/或膝关节疼痛。患儿常抱怨长途步行会感到疲劳。可能出现蹒跚步态。成年患者身高常为正常身高下限或低于正常身高。与躯干相比,四肢相对较短。疼痛和关节畸形不断进展,导致早发骨关节炎,特别是负重大关节。
诊断/检测:常染色体显性MED的诊断基于临床和放射学检查结果。如果临床和放射学特征不明确,可在COMP,MATN3,COL9A1,COL9A2,或COL9A3基因中鉴定杂合致病变异,以明确诊断。
治疗:对症治疗:疼痛控制,包括镇痛药和物理治疗的组合,包括水疗;如果需要,转诊给风湿科或疼痛科专家;进行下肢力线矫形截骨和/或髋臼截骨术以限制关节破坏和骨关节炎的发展。如果退行性髋关节改变导致无法控制的疼痛和功能障碍,则考虑全关节置换术;针对身材矮小,慢性疼痛,残疾和就业问题,提供社会心理支持。观察:由骨科医生对慢性疼痛和/或肢体畸形进行评估(膝内翻,膝外翻)。要避免的情况:避免胖,避免锻炼导致受累关节劳损。
遗传咨询:许多具有常染色体显性MED的个体的致病变异基因遗传自父母。新发致病性变异尚无流行病学资料。具有常染色体显性MED的个体的每个孩子有50%的机会遗传致病变异基因。如果在已患病的家庭成员中鉴定出致病性变异基因,则可能对存在风险的孕妇进行产前诊断。
Multiple Epiphyseal Dysplasia, Autosomal Dominant
CLINICAL CHARACTERISTICS: Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.
DIAGNOSIS/TESTING: The diagnosis of autosomal dominant MED is based on clinical and radiographic findings. Identification of a heterozygous pathogenic variant in COMP, MATN3, COL9A1, COL9A2, or COL9A3 establishes the diagnosis if clinical and radiographic features are inconclusive.
MANAGEMENT: Treatment of manifestations: For pain control, a combination of analgesics and physiotherapy including hydrotherapy; referral to a rheumatologist or pain specialist as needed; consideration of realignment osteotomy and/or acetabular osteotomy to limit joint destruction and development of osteoarthritis. Consider total joint arthroplasty if the degenerative hip changes cause uncontrollable pain/dysfunction; offer psychosocial support addressing issues of short stature, chronic pain, disability, and employment. Surveillance: Evaluation by an orthopedic surgeon for chronic pain and/or limb deformities (genu varum, genu valgum). Agents/circumstances to avoid: Obesity; exercise causing repetitive strain on affected joints.
GENETIC COUNSELING: Many individuals with autosomal dominant MED have inherited the pathogenic variant from a parent. The prevalence of de novo pathogenic variants is not known. Each child of an individual with autosomal dominant MED has a 50% chance of inheriting the pathogenic variant. Prenatal diagnosis of pregnancies at increased risk is possible if the pathogenic variant has been identified in an affected family member.
文献出处:AuthorsBriggs MD, Wright MJ, Mortier GR. Multiple Epiphyseal Dysplasia, Autosomal Dominant. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2001 Nov 1.
常染色体隐性多发骨骺发育不良
译者:程徽
临床特征:常染色体隐性多发骨骺发育不良(EDM4 / rMED)的特征是关节疼痛(通常在髋关节或膝关节);手,脚和膝关节的畸形和脊柱侧凸。大约50%的患者在出生时有异常发现,例如马蹄内翻足,指趾畸形或(罕见)囊肿耳肿胀。关节疼痛的发作存在个体差异,但通常发生在儿童晚期。在青春期之前,身材通常在正常范围内;在成年后,身材略低于正常,范围从150到180厘米。功能障碍很轻微。
诊断/检测:EDM4 / rMED的诊断基于临床和影像学表现。 SLC26A2是唯一已知致病变异基因引起EDM4 / rMED的基因。
治疗:对症治疗:物理疗法以强化肌肉和维持关节活动度;谨慎地使用镇痛药物,如非甾体抗炎药(NSAIDs);必要时行骨科手术(关节置换术);职业咨询。预防继发病变:强化的理疗可能有助于延缓关节挛缩和维持关节活动度。观察: X线片。要避免的情况:避免受累关节的超负荷的运动。
遗传咨询:EDM4/ rMED以常染色体隐性方式遗传。在概念上,EDM4 / rMED患者的每个同胞都有25%的机会受到影响,50%的机会成为无症状的携带者,25%的机会不受影响(不是携带者)。一旦疑似患者被排除患病的可能,他为携带者的风险是2/3。如果家族中的致病等位基因已知,并且父母的携带者状态已得到确认,则应该对风险较高的亲属进行携带者检测,并对存在风险的孕妇进行产前检测。对于诸如EDM4 / rMED之类致病性较弱的疾病并不常规进行孕期筛查。
Multiple Epiphyseal Dysplasia, Recessive
CLINICAL CHARACTERISTICS: Recessive multiple epiphyseal dysplasia (EDM4/rMED) is characterized by joint pain (usually in the hips or knees); malformations of hands, feet, and knees; and scoliosis. Approximately 50% of affected individuals have an abnormal finding at birth, e.g., clubfoot, clinodactyly, or (rarely) cystic ear swelling. Onset of articular pain is variable but usually occurs in late childhood. Stature is usually within the normal range prior to puberty; in adulthood, stature is only slightly diminished and ranges from 150 to 180 cm. Functional disability is mild.
DIAGNOSIS/TESTING: Diagnosis of EDM4/rMED is based on clinical and radiographic findings. SLC26A2 is the only gene in which pathogenic variants are known to cause EDM4/rMED.
MANAGEMENT: Treatment of manifestations: Physiotherapy for muscular strengthening and maintaining mobility; cautious use of analgesic medications such as nonsteroidal anti-inflammatory drugs (NSAIDs); orthopedic surgery (joint replacement) as indicated; career counseling. Prevention of secondary complications: Intensive physiotherapy may help in delaying joint contractures and in maintaining mobility. Surveillance: Radiographs as indicated. Agents/circumstances to avoid: Sports involving joint overload.
GENETIC COUNSELING: EDM4/rMED is inherited in an autosomal recessive manner. At conception, each sib of a proband with EDM4/rMED has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier is 2/3. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk is possible if both pathogenic alleles in the family are known and the carrier status of the parents has been confirmed. Requests for prenatal testing for mild conditions such as EDM4/rMED are not common.
文献出处:AuthorsBonafé L, Mittaz-Crettol L, Ballhausen D, Superti-Furga A. Multiple Epiphyseal Dysplasia, Recessive.SourceGeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
迟发性X染色体连锁脊椎骨骺发育不良
译者:程徽
临床描述:在成年人中,X连锁型脊柱骨骺发育不良症(X连锁SEDT)的特征是身材不成比例,短躯干和臂展明显大于身高。出生时,男性患者身长正常,体型正常。男性患者在6岁至8岁左右开始呈现线性增长迟缓。最终成人身高通常为137-163厘米。渐进性关节和背部疼痛伴骨关节炎随之而来;通常涉及髋关节,膝关节和肩关节,程度上存在个体差异。早在40岁时就需要更换髋关节。指间关节不受累为其特征。运动和智力发育正常。
诊断/检测:X连锁SEDT的诊断依赖于临床和影像学特征的结合,通常可以在儿童时期进行。青少年和成年男性身材不成比例,身材相对较矮,桶形胸部。上半身与下半身的比例通常约为0.8。臂展通常超过身高10-20厘米。通常在青春期之前出现的特征性X线表现包括:多发性骺异常;扁平椎体(扁平椎体),在侧面观察时具有特征性的上下椎板“隆起”;成年时椎间隙狭窄;脊柱侧弯;齿状突发育不良;股骨颈短;扁平髋畸形;以及从刚成年时即出现的早期骨关节炎。 TRAPPC2(SEDL)是已知致病变异基因引起X连接的SEDT的唯一基因。在80%以上的男性中,分子遗传学检测揭示TRAPPC2中的一种致病性变异,临床诊断为X连锁SEDT。
治疗:表现治疗:手术干预可包括关节置换术(髋关节,膝关节,肩关节),或脊柱手术(矫正脊柱侧弯或后凸畸形)。通常需要在矫形手术之前或之后进行标准的慢性疼痛管理。观察:每年随访评估关节疼痛和脊柱侧弯;在学龄前以及任何涉及全身麻醉的外科手术之前必须评估临床上显着的齿状突发育不全。要避免情况:齿状突发育不全患者须避免极端颈部屈曲和伸展;避免对脊柱和负重关节造成不必要的压力的活动和职业。需评估存在患病风险的亲属:对于存在患病风险的男性进行的早期诊断,可以避免对身材矮小和/或骨关节炎的进行其他不必要的检查。
遗传咨询:X练过的SEDT以为X染色体伴性遗传。当进行时,经分子遗传学检测确定,无论有无家族史,所有患者的母亲都是TRAPPC2中致病变异基因的携带者。女性携带者在每次怀孕中传播TRAPPC2致病变异基因的风险为50%:遗传了致病变异基因的男性会发病而;遗传致病变异基因的女性将成为携带者,不会发病。男性患者的儿子都不会受到影响;而男性患者的所有的女儿将成为TRAPPC2致病变异基因的携带者。如果家系中的致病性变异已被确定,则应对风险较高的女性亲属进行携带者检测和对存在风险的怀孕进行产前检测。
X-Linked Spondyloepiphyseal Dysplasia Tarda
CLINICAL DESCRIPTION: In adults, X-linked spondyloepiphyseal dysplasia tarda (X-linked SEDT) is characterized by disproportionately short stature with short trunk and arm span significantly greater than height. At birth, affected males are normal in length and have normal body proportions. Affected males exhibit retarded linear growth beginning around age six to eight years. Final adult height is typically 137-163 cm. Progressive joint and back pain with osteoarthritis ensues; hip, knee, and shoulder joints are commonly involved but to a variable degree. Hip replacement is often required as early as age 40 years. Interphalangeal joints are typically spared. Motor and cognitive milestones are normal.
DIAGNOSIS/TESTING: he diagnosis of X-linked SEDT, which relies on a combination of clinical and radiographic features, is usually possible in childhood. Adolescent and adult males have disproportionately short stature with a relatively short trunk and barrel-shaped chest. Upper- to lower-body segment ratio is usually about 0.8. Arm span typically exceeds height by 10-20 cm. Characteristic radiographic findings, which typically appear prior to puberty, include: multiple epiphyseal abnormalities; platyspondyly (flattened vertebral bodies) with characteristic superior and inferior 'humping' seen on lateral view; narrow disc spaces in adulthood; scoliosis; hypoplastic odontoid process; short femoral necks; coxa vara; and evidence of premature osteoarthritis beginning in young adulthood. TRAPPC2 (SEDL) is the only gene in which pathogenic variants are known to cause X-linked SEDT. Molecular genetic testing reveals a pathogenic variant in TRAPPC2 in more than 80% of males with a clinical diagnosis of X-linked SEDT.
MANAGEMENT: Treatment of manifestations: Surgical intervention may include joint replacement (hip, knee, shoulder) or spine surgery (correction of scoliosis or kyphosis). Standard chronic pain management preceding or following orthopedic surgery is often required. Surveillance: Annual follow up for assessment of joint pain and scoliosis; cervical spine films prior to school age and before any surgical procedure involving general anesthesia to assess for clinically significant odontoid hypoplasia. Agents/circumstances to avoid: Extreme neck flexion and extension in individuals with odontoid hypoplasia. Activities and occupations that place undue stress on the spine and weight-bearing joints. Evaluation of relatives at risk: Presymptomatic testing in males at risk may obviate unnecessary diagnostic testing for other causes of short stature and/or osteoarthritis.
GENETIC COUNSELING: X-linked SEDT is inherited in an X-linked manner. When performed, molecular genetic testing of all mothers of affected sons determined that regardless of family history all were carriers of a pathogenic variant in TRAPPC2. Carrier females are at a 50% risk of transmitting the TRAPPC2 pathogenic variant in each pregnancy: males who inherit the pathogenic variant will be affected; females who inherit the pathogenic variant will be carriers and will not be affected. None of the sons of an affected male will be affected; all daughters will be carriers of the TRAPPC2 pathogenic variant. Carrier testing of at-risk female relatives and prenatal testing for pregnancies at increased risk are possible if the pathogenic variant in the family has been identified.
文献出处:AuthorsTiller GE, Hannig VL. X-Linked Spondyloepiphyseal Dysplasia Tarda. SourceGeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2001 Nov 1 .
编者附:
我们304医院关节外科已对骨骺发育不良患者的家系展开全外显子测序工作,并已发现目前未知的变异。
图为家系之一,患者,患者之女,患者之外孙
罕见病的研究虽不具有普遍意义,但罕见病的患者也与我们一样有健康快乐生活的权利,一样需要得到关注。在研究工作上必须做到不抛弃、不放弃!
文献3
髋关节发育不良:基于多中心大样本关节镜患者的相关发现及治疗措施的分析
译者:肖凯
目的:基于对接受髋关节镜手术的髋关节发育不良患者的研究,报道观察研究结果。
方法:观察对象选自2014年至2016年间就诊于多个治疗中心的患者,纳入标准包括:单纯髋关节镜手术、有外侧CE角数值记录的、完整的患者自我评分数据。我们回顾性分析了髋关节发育不良患者(外侧CE角≤25°)和非髋关节发育不良患者(外侧CE角>25°)间关节活动度、关节镜病变特点及治疗措施的不同。
结果:共有1053例患者符合纳入标准,其中133例(13%)患者存在髋关节发育不良,平均外侧CE角22.8°(标准差为2.4°);其余非髋关节发育不良患者的平均外侧CE角为34.6°(标准差为6.3°)。两组患者术前改良Harris评分、国际髋关节预后工具-12评分及疼痛VAS评分间均无统计学差异。80%的髋关节发育不良患者存在Cam畸形。两组患者间髋关节内旋活动度存在统计学差异(髋关节发育不良组:21°,非发育不良组:16°,P<0.001)。在髋关节发育不良患者中,无Cam畸形的平均内旋活动度为33.5°(标准差为15.6°),有Cam畸形的平均内旋活动度为18.5°(标准差为11.6°),差异具有统计学意义(P <0.001)。髋关节发育不良组盂唇肥厚的发生率为33%,非发育不良组为11%,差异具有统计学意义(P<0.001)。对于髋关节发育不良患者盂唇损伤的治疗,76%的采用了盂唇缝合,13%的应用了盂唇重建,11%的进行了选择性切除。两组患者见针对盂唇损伤的处理无显著差异。关节镜下除了处理盂唇损伤,对76%的患者进行了股骨成形术,对73%的患者进行了滑膜切除术。两组患者间髋关节切开方式及关节囊缝合率(发育不良组为96%,非发育不良组92%)上无统计学差异。
结论:髋关节发育不良的患者,尤其示交界区性与轻度的患者,占了13%的髋关节镜手术量。尽管两组患者术前疼痛程度及关节功能情况相仿,但发育不良患者髋关节屈髋位内旋活动度更大。合并Cam畸形的患者内旋活动度会显著降低。关节镜下常见的操作是盂唇缝合、股骨成形及关节囊修复缝合。
Hip Dysplasia: Prevalence, Associated Findings, and Procedures From Large Multicenter Arthroscopy Study Group
PURPOSE: To report observational findings of patients with acetabular dysplasia undergoing hip arthroscopy.
METHODS: We performed a comparative case series of multicenter registry patients from January 2014 to April 2016 meeting the inclusion criteria of isolated hip arthroscopy, a documented lateral center-edge angle (LCEA), and completion of preoperative patient-reported outcome measures. A retrospective analysis compared range of motion, intra-articular pathology, and procedures of patients with dysplasia (LCEA ≤25°) and patients without dysplasia (LCEA >25°).
RESULTS: Of 1,053 patients meeting the inclusion criteria, 133 (13%) had dysplasia with a mean LCEA of 22.8° (standard deviation, 2.4°) versus 34.6° (standard deviation, 6.3°) for non-dysplasia patients. There were no statistically significant differences in preoperative modified Harris Hip Score, International Hip Outcome Tool-12 score, or visual analog scale score (pain). Cam deformity occurred in 80% of dysplasiapatients. There was a significant difference in internal rotation between the dysplasia (21°) and non-dysplasia groups (16°, P < .001). Mean internal rotation (33.5°; standard deviation, 15.6°) of the dysplastic subjects without cam morphology was greater than that of the dysplastic patients with cam morphology (18.5°; standard deviation, 11.6°; P < .001). Hypertrophic labra were found more commonly in dysplastic (33%) than non-dysplastic hips (11%, P < .001). Labral tears in patients with dysplasia were treated by repair (76%), reconstruction (13%), and selective debridement (11%); labral treatments were not significantly different between cohorts. The most common nonlabral procedures included femoroplasty (76%) and synovectomy (73%). There was no significant difference between the dysplasia and non-dysplasia groups regarding capsulotomy types and capsular closure rates (96% and 92%, respectively).
CONCLUSIONS: Dysplasia, typically of borderline to mild severity, comprises a significant incidence of surgical cases (13%) by surgeons performing high-volume hip arthroscopy. Despite having similar preoperative pain and functional profiles to patients without dysplasia, dysplasia patients may have increased flexed-hip internal rotation. Commonly associated cam morphology significantly decreases internal rotation. Arthroscopic labral repair, femoroplasty, and closure of interportal capsulotomy are the most commonly performed procedures.
文献出处:Matsuda DK, Wolff AB, Nho SJ, et al. Hip Dysplasia: Prevalence, Associated Findings, and Procedures From Large Multicenter Arthroscopy Study Group. Arthroscopy. 2018 Feb;34(2):444-453. doi: 10.1016/j.arthro.2017.08.285. Epub 2017 Nov 13.
文献4
术后即刻MRI检查明确髋关节切开或闭合复位治疗效果
译者:张振东
背景:年龄及疾病严重程度是决定髋关节发育不良患者治疗方式的决定因素,一般来讲,0-6月龄患儿,常使用髋外展支具固定治疗;6-18月龄患儿,常选择闭合复位伴或不伴内收肌切断术治疗;18月龄以上者,则需要行切开复位伴或不伴骨盆截骨股骨截骨术治疗。目前,对髋关节发育不良患儿切开或闭合复位、石膏固定后行髋关节MRI检查,在临床中应用越来越多。MRI可明确复位效果,决定是否需再次干预。本研究目的在于观察术后即刻MRI在切开或闭合复位石膏固定治疗髋关节发育不良患儿中的作用。
方法:回顾性搜集6年期间内于同一中心接受石膏固定后髋关节MRI检查的74例(107髋)患者临床资料,包括52例男孩、22例女孩。临床资料包括:年龄、性别、治疗方式(切开/闭合)、MRI结果、是否需要再次干预以及再次干预时间间隔等。通过统计分析明确两组间差异,同时比较两组患儿石膏固定后再次干预治疗者所占的比例差异。
结果:患儿平均年龄为16.4月(范围:4-63月),其中闭合复位石膏固定组患儿平均年龄为10.5月(范围:4-24月),切开复位石膏固定组患儿平均年龄为23.7月(范围:5-63月)。两组间比较有统计学差异。接受闭合复位的52髋中,16例(31%)需接受再次治疗,其中8例术中透视未见异常而经MRI明确(图),其余8例术后MRI未见异常,在术后复查时见复位失败;而在接受切开复位55髋中,3例(5%)需接受再次治疗,而MRI仅确定出1例(2%)。
女,7月龄,髋关节发育不良接受闭合复位石膏固定。a 术中复位后造影前后位X线片;b 石膏固定后;c 冠状位、d 轴位MRI显示髋关节后脱位
结论:闭合复位石膏固定治疗患儿髋关节发育不良,术后MRI检查可有效评估复位效果,决定是否需要再次手术;而切开复位石膏固定后,MRI检查的作用尚值得商榷。
Utility of immediate postoperative hip MRI in developmental hip dysplasia: closed vs. open reduction
BACKGROUND: Magnetic resonance imaging (MRI) of the hips is being increasingly used to confirm hip reduction after surgery and spica cast placement for developmental dysplasia of the hip (DDH).
OBJECTIVE: To review a single institutional experience with post-spica MRI in children undergoing closed or open hip reduction and describe the utility of MRI in directing the need for re-intervention.
MATERIALS AND METHODS: Seventy-four patients (52 female, 22 male) who underwent post-spica hip MRI over a 6-year period were retrospectively reviewed. One hundred and seven hips were included. Data reviewed included age at intervention, gender, type of intervention performed, MRI findings, the need for re-intervention and the interval between interventions. Gender was compared between the closed and open reduction groups via the Fisher exact test. Age at the first procedure was compared via the Wilcoxon rank test. Rates of re-intervention after closed and open reduction were calculated and the reasons for re-intervention were reviewed.
RESULTS: The mean age at the time of the first intervention was 16.4 months (range: 4 to 63 months). Mean age for the closed reduction group was 10.5 months (range: 4-24 months) and for the open reduction group was 23.7 months (range: 5-63 months), which was significant (P-value <0.0001). Of the 52 hips that underwent closed reduction, 16 (31%) needed re-intervention. Of the 55 hips that underwent open reduction, MRI was useful in deciding re-intervention in only 1 (2%). This patient had prior multiple failed closed and open reductions at an outside institute.
CONCLUSION: Post intervention hip spica MRI is useful in determining the need for re-intervention after closed hip reduction, but its role after open reduction is questionable.
文献出处:Jadhav SP, More SR, Shenava V, Zhang W, Kan JH. Utility of immediate postoperative hip MRI in developmental hip dysplasia: closed vs. open reduction. Pediatr Radiol. 2018 Apr 25.
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