本期目錄：
1、非骨水泥鉭金屬脛骨平臺假體用于小于60歲患者的全膝關(guān)節(jié)置換術(shù)：平均10年的隨訪結(jié)果
2、全髖關(guān)節(jié)置換術(shù)后通過Budin位和頭頸干角技術(shù)測量股骨假體扭轉(zhuǎn)角的比較研究
3、短柄全髖關(guān)節(jié)置換術(shù)后髖關(guān)節(jié)旋轉(zhuǎn)對股骨偏心距的影響
4、不穩(wěn)定股骨頭骺滑脫的治療的對照治療：關(guān)節(jié)內(nèi)楔形截骨術(shù)或原位內(nèi)固定
5、 常染色體顯性多發(fā)骨骺發(fā)育不良；常染色體隱性多發(fā)骨骺發(fā)育不良；遲發(fā)性X染色體連鎖脊椎骨骺發(fā)育不良
6、髖關(guān)節(jié)發(fā)育不良：基于多中心大樣本關(guān)節(jié)鏡患者的相關(guān)發(fā)現(xiàn)及治療措施的分析
7、術(shù)后即刻MRI檢查明確髖關(guān)節(jié)切開或閉合復(fù)位治療效果
第一部分：關(guān)節(jié)置換相關(guān)文獻(xiàn)
文獻(xiàn)1
非骨水泥鉭金屬脛骨平臺假體用于小于60歲患者的全膝關(guān)節(jié)置換術(shù)：平均10年的隨訪結(jié)果
譯者：張軼超
背景：盡管我們很擔(dān)心非骨水泥全膝置換術(shù)中脛骨假體的松動問題，但由于其具有骨長入及更多的保留骨量的優(yōu)勢，因此更適合應(yīng)用在年輕患者身上。但目前非骨水泥假體應(yīng)用的中長期結(jié)果還很少。既往我們報(bào)道過在年齡小于60歲的患者中應(yīng)用多孔鉭金屬非骨水泥假體的5年的效果。本研究是報(bào)告以上這些患者10年時(shí)的臨床及影像學(xué)生存率。
方法：本研究中包括79名（96膝）手術(shù)時(shí)年齡小于60歲的患者。所有手術(shù)均由一位經(jīng)驗(yàn)豐富的醫(yī)生在一個(gè)醫(yī)療中心完成，都使用的是非骨水泥、后穩(wěn)定型、多孔鉭金屬脛骨平臺假體。隨訪并記錄膝關(guān)節(jié)協(xié)會評分（KSS），放射學(xué)情況及并發(fā)癥或翻修情況。
結(jié)果：在最后隨訪時(shí)，79名（96膝的74%）患者中有76%（60名患者）的被評估或做了翻修手術(shù)（n=6）；7名患者死亡，12名失訪。平均隨訪10年（從8年到12年）。影像學(xué)上無漸進(jìn)性的透亮線表現(xiàn)。平均的KSS功能評分為68分（0到100分）。所有翻修病例均與脛骨固定無關(guān)：股骨假體松動（1例），關(guān)節(jié)僵直（1例），疼痛和腫脹（2例），關(guān)節(jié)不穩(wěn)（2例）。翻修率為6%。
結(jié)論：術(shù)后隨訪10年，非骨水泥多孔鉭金屬脛骨假體具有可靠的固定，好的影像學(xué)表現(xiàn)及良好的功能。沒有假體松動。從臨床和影像學(xué)結(jié)果顯示非骨水泥假體使用結(jié)果良好。這種假體可以通過骨長入和人體骨形成一個(gè)整體，使用壽命長，適合應(yīng)用于年輕患者。
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.
文獻(xiàn)出處：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.
文獻(xiàn)2
全髖關(guān)節(jié)置換術(shù)后通過Budin位和頭頸干角技術(shù)測量股骨假體扭轉(zhuǎn)角的比較研究
譯者：馬云青
背景：正確測量股骨假體前傾角對于全髖關(guān)節(jié)置換（THA）十分重要。本研究的目的是比較最近發(fā)表的一種新的方法即基于前位后位髖關(guān)節(jié)X線片使用投影后的頭-頸-骨干角(AP-CCD)和改良后前位Budin位，分別對股骨假體的前傾角進(jìn)行測量。
方法：收集30名接受生物型假體置換的全髖術(shù)后患者的前后位、改良Budin位和三維CT影像學(xué)資料。4名檢測人員間隔6周對X線片進(jìn)行測量并與三維CT結(jié)果進(jìn)行比較。此外，評價(jià)放射學(xué)資料與三維CT的偏差與患者的特異性特征之間的相關(guān)性。
結(jié)果：發(fā)現(xiàn)APCCD的測量結(jié)果與三維CT間比較差異為2.2 ± 6.8°，改良Budin位的差異為0.5 ± 4.2°，兩者均有統(tǒng)計(jì)學(xué)差異(r ? 0.78, P < .001 AP CCD， r ? 0.84, P< .001 Budin)。同時(shí)測量人員間和本人兩次對X線資料的測量值(APCCD的相關(guān)系數(shù)≥0.88，Budin位相關(guān)系數(shù)≥0.94)和（APCCD平均一致性相關(guān)系數(shù)≥0.79，Budin位一致性相關(guān)系數(shù)≥0.86)之間有很好的一致性。
結(jié)論：兩種X線平片的測量方法均能對髖關(guān)節(jié)術(shù)后股骨假體的扭轉(zhuǎn)進(jìn)行簡單的評估和具有一定的臨床實(shí)用性。但是，CT檢查仍然是準(zhǔn)確測量股骨假體扭轉(zhuǎn)角度的金標(biāo)準(zhǔn)。
前后位頭頸干角測量方法，由于假體的真實(shí)頭頸干角是一已知的。通過計(jì)算AP CCD與真實(shí)假體CCD的比值計(jì)算假體扭轉(zhuǎn)（ST）
Budin位測量假體扭轉(zhuǎn)，A為假體頭a和頸a‘的連線，B為后髁連線通過兩者夾角計(jì)算假體扭轉(zhuǎn)（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 ? 0.78, P < .001 for AP CCD and r ? 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.
文獻(xiàn)出處：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.
文獻(xiàn)3
短柄全髖關(guān)節(jié)置換術(shù)后髖關(guān)節(jié)旋轉(zhuǎn)對股骨偏心距的影響
譯者：張薔
短柄全髖關(guān)節(jié)置換手術(shù)被認(rèn)為是一種適合年輕患者的治療選擇。股骨偏心距是公認(rèn)的全髖術(shù)后療效的重要影響因素之一。然而，學(xué)界對于短柄全髖術(shù)后股骨偏心距的變化以及功能影響知之甚少。更重要的是，術(shù)后髖關(guān)節(jié)旋轉(zhuǎn)會對投射的股骨偏心距產(chǎn)生影響，進(jìn)而導(dǎo)致偏心距被低估。因此，我們研究了一組37例（48髖）短柄全髖關(guān)節(jié)置換病例，并尋找一種全新的方法來準(zhǔn)確評估髖關(guān)節(jié)旋轉(zhuǎn)。我們反復(fù)計(jì)算測量值，比較測量值的組間及組內(nèi)可靠性并依據(jù)旋轉(zhuǎn)矯正股骨偏心距測量值。因此，我們測出的旋轉(zhuǎn)矯正后的股骨偏心距值是目前研究中準(zhǔn)確性最高的，今后的股骨偏心距研究均應(yīng)進(jìn)行相應(yīng)的旋轉(zhuǎn)矯正。
施樂輝Nanos 9號柄
A．術(shù)前偏心距測量方法；B.術(shù)后假體頸干角測量方法; C.術(shù)后偏心距測量方法
髖關(guān)節(jié)旋轉(zhuǎn)及計(jì)算方法: Hiprotation (°) = arcos (tan (180–投射頸干角)/tan (180–真實(shí)頸干角)).
Rotation-correctedFO (FO RC) = calibrated FO · (tan (180?投射頸干角)/tan (180–真實(shí)頸干角))
髖關(guān)節(jié)旋轉(zhuǎn)角度（平均值）
nFO：術(shù)前偏心距/rotation corrected nFO：旋轉(zhuǎn)矯正的術(shù)前偏心距/pFO：術(shù)后偏心距/rotation corrected pFO：旋轉(zhuǎn)矯正的術(shù)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.
文獻(xiàn)出處： 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：保髖相關(guān)文獻(xiàn)
文獻(xiàn)1
不穩(wěn)定股骨頭骺滑脫的治療的對照治療：關(guān)節(jié)內(nèi)楔形截骨術(shù)或原位內(nèi)固定
譯者：羅殿中
我們回顧性對比研究了自1998年至2011年間就診的不穩(wěn)定性股骨頭骺滑脫患者，共計(jì)45名患者（46髖），年齡9-14歲，平均年齡12.6歲。16例接受了關(guān)節(jié)內(nèi)楔形截骨術(shù)，30例接受了原位內(nèi)固定術(shù)，固定后頭骺位置各不相同。關(guān)節(jié)內(nèi)截骨組患者均未失隨訪，平均隨訪28個(gè)月（11-48個(gè)月）。原位內(nèi)固定組有4例患者在術(shù)后平均30個(gè)月（10-50個(gè)月）時(shí)失隨訪。截骨組有4例（25%）患者術(shù)后發(fā)生股骨頭壞死；原位內(nèi)固定組有11例（42%）發(fā)生股骨頭壞死。股骨頭骺滑脫發(fā)生超過13天后進(jìn)行關(guān)節(jié)內(nèi)截骨術(shù)的5例患者均未發(fā)生股骨頭壞死。而在原位內(nèi)固定組，進(jìn)行急診手術(shù)的10例患者中有4例發(fā)生了股骨頭壞死；非急診手術(shù)的15例患者中有4例發(fā)生了股骨頭壞死；在滑脫發(fā)生第二天或第三天進(jìn)行手術(shù)的6例患者中，有4例（6%）發(fā)生股骨頭壞死。
原位內(nèi)固定組，在5例完全復(fù)位的患者中，4例（80%）發(fā)生了股骨頭壞死。相比之下，未完全復(fù)位的21例患者中有7例（33%）發(fā)生了股骨頭壞死。完全復(fù)位固定患者發(fā)生股骨頭壞死的概率明顯高于關(guān)節(jié)內(nèi)楔形截骨患者，差異具有統(tǒng)計(jì)學(xué)意義（P=0.048）。急診手術(shù)的病例中更易出現(xiàn)完全復(fù)位，并與股骨頭壞死呈現(xiàn)強(qiáng)相關(guān)性（P=0.005）。
非急診關(guān)節(jié)內(nèi)楔形截骨術(shù)有助于保護(hù)股骨頭骺學(xué)運(yùn)，建議在滑脫發(fā)生2周后再進(jìn)行手術(shù)治療。我們應(yīng)對進(jìn)行原位內(nèi)固定的患者進(jìn)行再次評估，或許急診開放手術(shù)或者延期關(guān)節(jié)內(nèi)截骨術(shù)是更好的選擇。原位內(nèi)固定術(shù)應(yīng)在滑脫發(fā)生至少5天后進(jìn)行，切記滑脫發(fā)生2-3天手術(shù)最危險(xiǎn)。關(guān)節(jié)內(nèi)截骨術(shù)應(yīng)在滑脫發(fā)生至少14天后進(jìn)行。根據(jù)我們的經(jīng)驗(yàn)，閉合復(fù)位更容易發(fā)生并發(fā)癥。
關(guān)節(jié)內(nèi)楔形截骨術(shù)術(shù)中“H”形切開關(guān)節(jié)囊
術(shù)中顯示截骨端情況
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.
文獻(xiàn)出處：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.
文獻(xiàn)2（合集）
常染色體顯性多發(fā)骨骺發(fā)育不良
譯者：程徽
臨床特征：常染色體顯性多發(fā)骨骺發(fā)育不良（MED）在兒童早期出現(xiàn)，通常伴有運(yùn)動后髖部和/或膝關(guān)節(jié)疼痛?；純撼１г归L途步行會感到疲勞?？赡艹霈F(xiàn)蹣跚步態(tài)。成年患者身高常為正常身高下限或低于正常身高。與軀干相比，四肢相對較短。疼痛和關(guān)節(jié)畸形不斷進(jìn)展，導(dǎo)致早發(fā)骨關(guān)節(jié)炎，特別是負(fù)重大關(guān)節(jié)。
診斷/檢測：常染色體顯性MED的診斷基于臨床和放射學(xué)檢查結(jié)果。如果臨床和放射學(xué)特征不明確，可在COMP，MATN3，COL9A1，COL9A2，或COL9A3基因中鑒定雜合致病變異，以明確診斷。
治療：對癥治療：疼痛控制，包括鎮(zhèn)痛藥和物理治療的組合，包括水療；如果需要，轉(zhuǎn)診給風(fēng)濕科或疼痛科專家；進(jìn)行下肢力線矯形截骨和/或髖臼截骨術(shù)以限制關(guān)節(jié)破壞和骨關(guān)節(jié)炎的發(fā)展。如果退行性髖關(guān)節(jié)改變導(dǎo)致無法控制的疼痛和功能障礙，則考慮全關(guān)節(jié)置換術(shù)；針對身材矮小，慢性疼痛，殘疾和就業(yè)問題，提供社會心理支持。觀察：由骨科醫(yī)生對慢性疼痛和/或肢體畸形進(jìn)行評估（膝內(nèi)翻，膝外翻）。要避免的情況：避免胖，避免鍛煉導(dǎo)致受累關(guān)節(jié)勞損。
遺傳咨詢：許多具有常染色體顯性MED的個(gè)體的致病變異基因遺傳自父母。新發(fā)致病性變異尚無流行病學(xué)資料。具有常染色體顯性MED的個(gè)體的每個(gè)孩子有50％的機(jī)會遺傳致病變異基因。如果在已患病的家庭成員中鑒定出致病性變異基因，則可能對存在風(fēng)險(xiǎn)的孕婦進(jìn)行產(chǎn)前診斷。
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.
文獻(xiàn)出處：AuthorsBriggs MD, Wright MJ, Mortier GR. Multiple Epiphyseal Dysplasia, Autosomal Dominant. GeneReviews? [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2001 Nov 1.
常染色體隱性多發(fā)骨骺發(fā)育不良
譯者：程徽
臨床特征：常染色體隱性多發(fā)骨骺發(fā)育不良（EDM4 / rMED）的特征是關(guān)節(jié)疼痛（通常在髖關(guān)節(jié)或膝關(guān)節(jié)）；手，腳和膝關(guān)節(jié)的畸形和脊柱側(cè)凸。大約50％的患者在出生時(shí)有異常發(fā)現(xiàn)，例如馬蹄內(nèi)翻足，指趾畸形或（罕見）囊腫耳腫脹。關(guān)節(jié)疼痛的發(fā)作存在個(gè)體差異，但通常發(fā)生在兒童晚期。在青春期之前，身材通常在正常范圍內(nèi)；在成年后，身材略低于正常，范圍從150到180厘米。功能障礙很輕微。
診斷/檢測：EDM4 / rMED的診斷基于臨床和影像學(xué)表現(xiàn)。 SLC26A2是唯一已知致病變異基因引起EDM4 / rMED的基因。
治療：對癥治療：物理療法以強(qiáng)化肌肉和維持關(guān)節(jié)活動度；謹(jǐn)慎地使用鎮(zhèn)痛藥物，如非甾體抗炎藥（NSAIDs）；必要時(shí)行骨科手術(shù)（關(guān)節(jié)置換術(shù)）；職業(yè)咨詢。預(yù)防繼發(fā)病變：強(qiáng)化的理療可能有助于延緩關(guān)節(jié)攣縮和維持關(guān)節(jié)活動度。觀察： X線片。要避免的情況：避免受累關(guān)節(jié)的超負(fù)荷的運(yùn)動。
遺傳咨詢：EDM4/ rMED以常染色體隱性方式遺傳。在概念上，EDM4 / rMED患者的每個(gè)同胞都有25％的機(jī)會受到影響，50％的機(jī)會成為無癥狀的攜帶者，25％的機(jī)會不受影響（不是攜帶者）。一旦疑似患者被排除患病的可能，他為攜帶者的風(fēng)險(xiǎn)是2/3。如果家族中的致病等位基因已知，并且父母的攜帶者狀態(tài)已得到確認(rèn)，則應(yīng)該對風(fēng)險(xiǎn)較高的親屬進(jìn)行攜帶者檢測，并對存在風(fēng)險(xiǎn)的孕婦進(jìn)行產(chǎn)前檢測。對于諸如EDM4 / rMED之類致病性較弱的疾病并不常規(guī)進(jìn)行孕期篩查。
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.
文獻(xiàn)出處：AuthorsBonafé L, Mittaz-Crettol L, Ballhausen D, Superti-Furga A. Multiple Epiphyseal Dysplasia, Recessive.SourceGeneReviews? [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
遲發(fā)性X染色體連鎖脊椎骨骺發(fā)育不良
譯者：程徽
臨床描述：在成年人中，X連鎖型脊柱骨骺發(fā)育不良癥（X連鎖SEDT）的特征是身材不成比例，短軀干和臂展明顯大于身高。出生時(shí)，男性患者身長正常，體型正常。男性患者在6歲至8歲左右開始呈現(xiàn)線性增長遲緩。最終成人身高通常為137-163厘米。漸進(jìn)性關(guān)節(jié)和背部疼痛伴骨關(guān)節(jié)炎隨之而來；通常涉及髖關(guān)節(jié)，膝關(guān)節(jié)和肩關(guān)節(jié)，程度上存在個(gè)體差異。早在40歲時(shí)就需要更換髖關(guān)節(jié)。指間關(guān)節(jié)不受累為其特征。運(yùn)動和智力發(fā)育正常。
診斷/檢測：X連鎖SEDT的診斷依賴于臨床和影像學(xué)特征的結(jié)合，通?？梢栽趦和瘯r(shí)期進(jìn)行。青少年和成年男性身材不成比例，身材相對較矮，桶形胸部。上半身與下半身的比例通常約為0.8。臂展通常超過身高10-20厘米。通常在青春期之前出現(xiàn)的特征性X線表現(xiàn)包括：多發(fā)性骺異常；扁平椎體（扁平椎體），在側(cè)面觀察時(shí)具有特征性的上下椎板“隆起”；成年時(shí)椎間隙狹窄；脊柱側(cè)彎；齒狀突發(fā)育不良；股骨頸短；扁平髖畸形；以及從剛成年時(shí)即出現(xiàn)的早期骨關(guān)節(jié)炎。 TRAPPC2（SEDL）是已知致病變異基因引起X連接的SEDT的唯一基因。在80％以上的男性中，分子遺傳學(xué)檢測揭示TRAPPC2中的一種致病性變異，臨床診斷為X連鎖SEDT。
治療：表現(xiàn)治療：手術(shù)干預(yù)可包括關(guān)節(jié)置換術(shù)（髖關(guān)節(jié)，膝關(guān)節(jié)，肩關(guān)節(jié)），或脊柱手術(shù)（矯正脊柱側(cè)彎或后凸畸形）。通常需要在矯形手術(shù)之前或之后進(jìn)行標(biāo)準(zhǔn)的慢性疼痛管理。觀察：每年隨訪評估關(guān)節(jié)疼痛和脊柱側(cè)彎；在學(xué)齡前以及任何涉及全身麻醉的外科手術(shù)之前必須評估臨床上顯著的齒狀突發(fā)育不全。要避免情況：齒狀突發(fā)育不全患者須避免極端頸部屈曲和伸展；避免對脊柱和負(fù)重關(guān)節(jié)造成不必要的壓力的活動和職業(yè)。需評估存在患病風(fēng)險(xiǎn)的親屬：對于存在患病風(fēng)險(xiǎn)的男性進(jìn)行的早期診斷，可以避免對身材矮小和/或骨關(guān)節(jié)炎的進(jìn)行其他不必要的檢查。
遺傳咨詢：X練過的SEDT以為X染色體伴性遺傳。當(dāng)進(jìn)行時(shí)，經(jīng)分子遺傳學(xué)檢測確定，無論有無家族史，所有患者的母親都是TRAPPC2中致病變異基因的攜帶者。女性攜帶者在每次懷孕中傳播TRAPPC2致病變異基因的風(fēng)險(xiǎn)為50％：遺傳了致病變異基因的男性會發(fā)病而；遺傳致病變異基因的女性將成為攜帶者，不會發(fā)病。男性患者的兒子都不會受到影響；而男性患者的所有的女兒將成為TRAPPC2致病變異基因的攜帶者。如果家系中的致病性變異已被確定，則應(yīng)對風(fēng)險(xiǎn)較高的女性親屬進(jìn)行攜帶者檢測和對存在風(fēng)險(xiǎn)的懷孕進(jìn)行產(chǎn)前檢測。
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.
文獻(xiàn)出處：AuthorsTiller GE, Hannig VL. X-Linked Spondyloepiphyseal Dysplasia Tarda. SourceGeneReviews? [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2001 Nov 1 .
編者附：
我們304醫(yī)院關(guān)節(jié)外科已對骨骺發(fā)育不良患者的家系展開全外顯子測序工作，并已發(fā)現(xiàn)目前未知的變異。
圖為家系之一，患者，患者之女，患者之外孫
罕見病的研究雖不具有普遍意義，但罕見病的患者也與我們一樣有健康快樂生活的權(quán)利，一樣需要得到關(guān)注。在研究工作上必須做到不拋棄、不放棄！
文獻(xiàn)3
髖關(guān)節(jié)發(fā)育不良：基于多中心大樣本關(guān)節(jié)鏡患者的相關(guān)發(fā)現(xiàn)及治療措施的分析
譯者：肖凱
目的：基于對接受髖關(guān)節(jié)鏡手術(shù)的髖關(guān)節(jié)發(fā)育不良患者的研究，報(bào)道觀察研究結(jié)果。
方法：觀察對象選自2014年至2016年間就診于多個(gè)治療中心的患者，納入標(biāo)準(zhǔn)包括：單純髖關(guān)節(jié)鏡手術(shù)、有外側(cè)CE角數(shù)值記錄的、完整的患者自我評分?jǐn)?shù)據(jù)。我們回顧性分析了髖關(guān)節(jié)發(fā)育不良患者（外側(cè)CE角≤25°）和非髖關(guān)節(jié)發(fā)育不良患者（外側(cè)CE角>25°）間關(guān)節(jié)活動度、關(guān)節(jié)鏡病變特點(diǎn)及治療措施的不同。
結(jié)果：共有1053例患者符合納入標(biāo)準(zhǔn)，其中133例（13%）患者存在髖關(guān)節(jié)發(fā)育不良，平均外側(cè)CE角22.8°（標(biāo)準(zhǔn)差為2.4°）；其余非髖關(guān)節(jié)發(fā)育不良患者的平均外側(cè)CE角為34.6°（標(biāo)準(zhǔn)差為6.3°）。兩組患者術(shù)前改良Harris評分、國際髖關(guān)節(jié)預(yù)后工具-12評分及疼痛VAS評分間均無統(tǒng)計(jì)學(xué)差異。80%的髖關(guān)節(jié)發(fā)育不良患者存在Cam畸形。兩組患者間髖關(guān)節(jié)內(nèi)旋活動度存在統(tǒng)計(jì)學(xué)差異（髖關(guān)節(jié)發(fā)育不良組：21°，非發(fā)育不良組：16°，P<0.001）。在髖關(guān)節(jié)發(fā)育不良患者中，無Cam畸形的平均內(nèi)旋活動度為33.5°（標(biāo)準(zhǔn)差為15.6°），有Cam畸形的平均內(nèi)旋活動度為18.5°（標(biāo)準(zhǔn)差為11.6°），差異具有統(tǒng)計(jì)學(xué)意義（P <0.001）。髖關(guān)節(jié)發(fā)育不良組盂唇肥厚的發(fā)生率為33%，非發(fā)育不良組為11%，差異具有統(tǒng)計(jì)學(xué)意義（P<0.001）。對于髖關(guān)節(jié)發(fā)育不良患者盂唇損傷的治療，76%的采用了盂唇縫合，13%的應(yīng)用了盂唇重建，11%的進(jìn)行了選擇性切除。兩組患者見針對盂唇損傷的處理無顯著差異。關(guān)節(jié)鏡下除了處理盂唇損傷，對76%的患者進(jìn)行了股骨成形術(shù)，對73%的患者進(jìn)行了滑膜切除術(shù)。兩組患者間髖關(guān)節(jié)切開方式及關(guān)節(jié)囊縫合率（發(fā)育不良組為96%，非發(fā)育不良組92%）上無統(tǒng)計(jì)學(xué)差異。
結(jié)論：髖關(guān)節(jié)發(fā)育不良的患者，尤其示交界區(qū)性與輕度的患者，占了13%的髖關(guān)節(jié)鏡手術(shù)量。盡管兩組患者術(shù)前疼痛程度及關(guān)節(jié)功能情況相仿，但發(fā)育不良患者髖關(guān)節(jié)屈髖位內(nèi)旋活動度更大。合并Cam畸形的患者內(nèi)旋活動度會顯著降低。關(guān)節(jié)鏡下常見的操作是盂唇縫合、股骨成形及關(guān)節(jié)囊修復(fù)縫合。
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.
文獻(xiàn)出處：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.
文獻(xiàn)4
術(shù)后即刻MRI檢查明確髖關(guān)節(jié)切開或閉合復(fù)位治療效果
譯者：張振東
背景：年齡及疾病嚴(yán)重程度是決定髖關(guān)節(jié)發(fā)育不良患者治療方式的決定因素，一般來講，0-6月齡患兒，常使用髖外展支具固定治療；6-18月齡患兒，常選擇閉合復(fù)位伴或不伴內(nèi)收肌切斷術(shù)治療；18月齡以上者，則需要行切開復(fù)位伴或不伴骨盆截骨股骨截骨術(shù)治療。目前，對髖關(guān)節(jié)發(fā)育不良患兒切開或閉合復(fù)位、石膏固定后行髖關(guān)節(jié)MRI檢查，在臨床中應(yīng)用越來越多。MRI可明確復(fù)位效果，決定是否需再次干預(yù)。本研究目的在于觀察術(shù)后即刻MRI在切開或閉合復(fù)位石膏固定治療髖關(guān)節(jié)發(fā)育不良患兒中的作用。
方法：回顧性搜集6年期間內(nèi)于同一中心接受石膏固定后髖關(guān)節(jié)MRI檢查的74例（107髖）患者臨床資料，包括52例男孩、22例女孩。臨床資料包括：年齡、性別、治療方式（切開/閉合）、MRI結(jié)果、是否需要再次干預(yù)以及再次干預(yù)時(shí)間間隔等。通過統(tǒng)計(jì)分析明確兩組間差異，同時(shí)比較兩組患兒石膏固定后再次干預(yù)治療者所占的比例差異。
結(jié)果：患兒平均年齡為16.4月（范圍：4-63月），其中閉合復(fù)位石膏固定組患兒平均年齡為10.5月（范圍：4-24月），切開復(fù)位石膏固定組患兒平均年齡為23.7月（范圍：5-63月）。兩組間比較有統(tǒng)計(jì)學(xué)差異。接受閉合復(fù)位的52髖中，16例（31%）需接受再次治療，其中8例術(shù)中透視未見異常而經(jīng)MRI明確（圖），其余8例術(shù)后MRI未見異常，在術(shù)后復(fù)查時(shí)見復(fù)位失敗；而在接受切開復(fù)位55髖中，3例（5%）需接受再次治療，而MRI僅確定出1例（2%）。
女，7月齡，髖關(guān)節(jié)發(fā)育不良接受閉合復(fù)位石膏固定。a 術(shù)中復(fù)位后造影前后位X線片；b 石膏固定后；c 冠狀位、d 軸位MRI顯示髖關(guān)節(jié)后脫位
結(jié)論：閉合復(fù)位石膏固定治療患兒髖關(guān)節(jié)發(fā)育不良，術(shù)后MRI檢查可有效評估復(fù)位效果，決定是否需要再次手術(shù)；而切開復(fù)位石膏固定后，MRI檢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.
文獻(xiàn)出處：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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