先天性脊柱畸形合并椎管内神经系统畸形发病因素分析

目的 了解先天性脊柱畸形患者中椎管内畸形的发生情况,并探讨发病相关因素.方法 选取2003年3月至2009年10月经本院治疗的610例先天性脊柱畸形患者,术前行病史采集,脊柱CT、MR、腹部B超,心脏彩超等检查,了解脊柱、椎管内畸形及其他系统畸形情况.结果 先天性脊柱畸形患者中椎管内神经系统畸形的发生率为33.0%(201/610),在发病与性别、胎次、父母亲年龄、出生地、脊柱畸形分类、侧弯部位、侧凸方向以及是否合并泌尿系畸形,心血管畸形,肋骨及胸壁畸形等方面比较,差异均无统计学意义.而脊柱侧弯Winter分型为混合型者,在椎管内神经系统畸形组较无畸形组发生率高,差异有统计学意义(P=0.009).结论 先天性脊柱畸形患者椎管内神经系统畸形的发生率较高,需引起临床重视,建议行CT结合MRI检查,以早期发现,避免漏诊,并予适当处理.     

儿童先天性脊柱侧凸合并泌尿系畸形临床分析

目的了解儿童先天性脊柱侧凸合并泌尿系畸形的发生情况,分析并总结其临床特点。方法回顾性分析本院2005年12月至2016年6月收治的75例第一诊断为先天性脊柱侧凸患儿的临床资料,其中男性40例,女性35例,平均首诊年龄4岁5个月。结果 75例患儿中,先天性脊柱侧凸合并肾脏畸形50例(孤立肾22例,异位肾9例,马蹄肾7例,重肾8例,异位融合3例,分支状肾盂1例),隐睾8例,尿道下裂9例,其他泌尿系异常10例(4例泌尿系结石,1例双侧输尿管囊肿,2例双肾积水,1例神经源性膀胱,1例脐尿管囊肿,1例遗尿)。首次住院前仅4例完成尿道下裂修复手术,l例接受输尿管切开取石手术。所有病例行脊柱矫形手术时均未对泌尿系畸形进行手术干预。本组病例脊柱侧凸矫正顺利,效果满意。脊柱矫形术后随访3个月至10年1个月,平均6年3个月。结论先天性脊柱侧凸合并泌尿系畸形较常见,细致的体格检查、腹部B超,结合脊柱CT筛查能尽早发现,针对性随访及处理泌尿系畸形,改善患儿远期预后。     

隐睾及隐睾合并其他泌尿生殖系统畸形的外显子测序分析

目的对隐睾及隐睾合并其他泌尿生殖系统畸形的不同表型患儿进行外显子测序,以探索不同临床表型的分子病因。方法提取19例隐睾及隐睾合并其他泌尿生殖系统畸形患儿外周血基因组DNA进行外显子测序,并对测序结果进行生物信息学分析,其中3例行全基因外显子测序,16例行常见基因外显子测序,再采用Sanger测序对获得候选致病突变的患儿及其父母的外周血样本进行突变位点验证。结果本研究纳入的19例患儿中,6例外显子测序结果经生物信息学分析后发现存在异常结果,并提示有3个基因可能与相关表型发病有关:①AR基因发生3处错义突变(c.1600C>A;p.Pro534Thr)、(c.2599G>A;p.Val867Met)和(c.528C>A;p.Ser176Arg);②NR5A1基因发生移码突变(c.442delG;p.Glu148Serfs*148)和错义突变(c.43G>A;p.Val15Met);③ATRX基因发生剪切位点突变(c.4317+13T>C)。其中c.2599G>A和c.43G>A为已知突变,其余4处未见相关研究报道,为新发突变。Sanger测序结果表明6处突变均得以验证,5例患儿母亲存在对应位点突变、患儿父亲未见异常,1例患儿父母均未见异常。结论AR基因错义突变、NR5A1移码和错义突变及ATRX的剪切位点突变可能是隐睾及隐睾合并其他泌尿生殖系统畸形发病的危险因素。     

先天性肛门直肠畸形伴发泌尿消化道重复等多发畸形一例

笔者报告1例先天性肛门闭锁患儿合并直肠重复及双肾双输尿管畸形等8种共存畸形。 患儿,男,7个月,孕1产1,足月顺产,出生体重3.2kg。因出生后发现肛门闭锁,尿道中见有胎粪排出而在当地医院行乙结肠造瘘,正常喂养至7个月时来本院行根治手术。入院后行B超和MRI及静脉肾盂造影、逆行膀胱造影和结肠造影等检查,发现患儿肛门闭锁合并多种畸形,诊断为先天性肛门闭锁,直肠膀胱瘘,直肠重复畸形,右肾缺如,左双肾双输尿管畸形(左肾无积水),左巨     

小儿泌尿生殖系统异物32例临床分析

目的 总结泌尿生殖道异物患儿的诊疗经验.方法 回顾性分析1992年4月至2013年5月我们收治的泌尿生殖系统异物患儿临床资料.共32例（男15例,女17例）患儿,平均年龄7.9岁.异物位于膀胱7例,阴道15例,尿道8例,阴茎根部皮下1例,阴囊内1例.异物种类多样,进入体内方式以患儿自行置入最常见（28例,87.5%）,存留时间最短半天,最长逾1年.经X线摄片诊断12例,B超或联合摄片诊断10例,CT/MRI或联合B超诊断7例,体查诊断2例,内镜检查诊断1例.结果 所有患儿均完整取出异物,治愈出院,随访期内正常排尿.结论 X线摄片及B超为诊断的首选方法,联合CT或内镜检查可有效提高诊断率.临床确诊或高度怀疑泌尿生殖系统异物的患儿应尽早手术,需根据异物的种类、位置及感染情况选择不同的手术方法,内镜为首选,开放手术亦为有效的治疗方式.加强对儿童的看护、教育,正确引导儿童的好奇心,可以预防泌尿生殖道异物.     

超声筛查26989名儿童中先天性肾脏和尿路畸形的临床分析

目的 了解泌尿系超声筛查儿童先天性肾脏和尿路畸形(CAKUT)的发生率及其中各种畸形的发病诊疗情况,探讨超声在筛查诊断儿童CAKUT的重要性.方法 对2008年底北京儿童医院超声筛查26 989名儿童发现的489例儿童泌尿系异常病例进行随访,核实是否进一步明确筛查发现的泌尿系异常情况,对于未复查或者仍未确诊者统一者安排到北京儿童医院复查超声,进行总结分析.结果 ①本次筛查中(26 989例)估算CAKUT发生率约为1.67%,绝大部分无临床表现.②489例病例中随访到320例,失访169例,随访组(320例)中明确CAKUT 295例,其中16例确诊结果与超声筛查结果不完全一致.③肾积水137例(0.78%),输尿管膀胱连接部梗阻33例(0.19%),肾发育不良30例(0.17%),肾囊肿26例(0.15%);重复肾24例(0.14%);孤立肾22例(0.12%);输尿管囊肿16例(0.09%);融合肾10例(0.06%);肾发育不全9例(0.05%);异位肾5例(0.03%);多囊肾3例(0.02%);原发膀胱输尿管反流、后尿道瓣膜、肾旋转不良、分支肾盂、肾外型肾盂各1例.④114例畸形病例需手术治疗,占随访组中CAKUT患儿的38.6%(114/295),只有1例肾盂输尿管连接部梗阻病例手术失败.结论 儿童CAKUT的发生率较高,且早期并无明显临床表现而不易发现;超过三分之一的CAKUT需要外科干预;超声检查对发现儿童CAKUT具有明显优势,是筛查的首选方法,可以作为儿童的常规体检项目.

Abstract：

Objective To investigate the proportion of children with congenital abnormalities of the kidney and urinary tract(CAKUT)among those who received screening,analyze the rate, diagnosis and treatment of each abnormality, and evaluate the value of ultrasonogrphy in the CAKUT diagnosis.Method Totally 489 of 26 989 children who received screening for urinary tract abnormalities were found to have CAKUT and were followed up by telephone interviews and were asked whether they had defined diagnosis of CAKUT, had clinical symptoms and received treatment. Children who had been operated on were also asked about the operation time, surgical procedure, postoperative diagnosis, and outcome. Children who had never been reviewed or still had no diagnosis were arranged to Beijing Children's Hospital for ultrasound follow-up. The final data were summed up for a retrospective analysis. Result ① The proportion of children with CAKUT was 1.67%. Most children with CAKUT had no clinical manifestations. ② Of the 489 cases, 320 were followed up, and 169 were lost. Of the cases who were followed up, 16 out of 295 cases who had clear diagnosis showed inconsistent results in ultrasound screening.③Hydronephrosis was identified in 137 cases (0.78%),among whom 111 were males and 26 were females,in 98 cases the hydronephrosis was on the left, in 28 on the right and in 11 were bilateral. Ureterovesical junction obstruction occurred in 33 cases (0.19%),25 males and 8 females,in 22 cases on the left, in 10 on right and bilateral in 1 case. Renal dysplasia was shown in 30 cases(0.17%),22 males and 8 females;renal cysts in 26 cases(0.15%); duplex kidney in 24 cases (0.14%) ;solitary kidney in 22 cases(0.12%);ureterocele in 16 cases(0.09%);fused kidney in 10 cases(0.06%);renal hypoplasia in 9 cases(0.05%);ectopic kidney in 5 cases(0.03%);polycystic kidney in 3 cases(0.02%).Primary vesicoureteral reflux, posterior urethral valves, renal malrotation, branch renal pelvis, extrarenal pelvis in 1 case each.④Totally 114 of the 295 cases (38.6%)who were followed up for CAKUT in screening test required surgical treatment.Only one case of ureteropelvic junction obstruction(UPJO)failed in surgery.Conclusion The proportion of children with CAKUT was high.CAKUT is difficult to detect since there is no significant clinical manifestations in early ages.More than one third of patients with CAKUT needed surgical treatment.Ultrasonography showed obvious advantages in detecting children's CAKUT, proven to be the most preferred method of screening, thus could be recommended as a routine of children's physical examination.     

先天性心脏病合并其他畸形病例分析

<正>先天性心脏病(简称先心病)是当今世界各国儿童致残、致死的主要原因之一,居出生缺陷之首,发病率约1%。先心病患儿合并其他畸形的发病率远远高于正常儿童,有报道约50%的先心病患儿存在1个及1个以上的心外畸形。先心病合并     

新生儿先天性畸形481例构成和相关因素分析

目的 回顾性分析10年中新生儿畸形在发生率和组成结构中的变化,并探讨可能与畸形发生相关的多种因素的暴露情况,以研究新生儿畸形的现状,从而寻求有效降低新生儿畸形的方法.方法 选择10年内发生的所有新生儿畸形病例,对历年孕妇产前检查率、胎儿畸形构成状况、孕妇多种相关暴露因素进行分析,并对结果进行x2检验.结果 孕妇按时作产前检查对降低新生儿畸形的发生率和降低畸形的严重程度有重要的意义.先天性心脏病的发生率占所有畸形之首,神经系统畸形的发生率则明显下降.育龄妇女患性病、孕期感染等致畸因素近年来呈上升趋势.结论 孕妇产前检查,特别是应用B超和染色体检测进行筛查;减少母亲性病及孕期感染的发生对防范新生儿畸形的发生有重要意义.     

纵向可延长钛金属肋骨假体技术治疗先天性脊柱侧弯合并胸廓畸形

目的 报道我们采用纵向可延长钛金属肋骨假体(VEPTR)技术治疗先天性脊柱侧弯合并胸廓畸形的初步体会.方法 5例先天性脊柱侧弯合并胸廓畸形的患儿,男3例,女3例,平均年龄8.3岁(4.7～12.2岁);均自出生就发现脊柱畸形并呈进行性加重.除1例曾经接受过弧度段脊柱张力钢丝捆绑治疗外,其余病例均无过去手术史;所有病例体格矮小、躯体平衡失调并倒向凸侧;肺功能检测明显低下,其中最大肺活量(VCMAX)和最大自主通气量(MVV)分别只有同年龄、同身高正常预测值的24.8%～48.1%(平均32.8%)和20.8%～54.4%(平均34.5%);胸段脊柱混合型分节、分化不良,3例存在凹侧肋骨融合畸形;术前Cobb's角平均为77.6°(63°～106°);CT及CT三维重建测量,脊柱旋转(SR)平均为19.6°(11.4°～26.8°),胸廓旋转(TR)平均为61.4°(34.2°～477.2°),后半胸廓对称度(PHSR)平均为2.4(1.2～3.6);MRI脊髓扫描未发现异常.手术在神经监护仪下进行,所有病例均I期完成手术,4例进行了肋骨开放截骨,术中4例胸膜壁层破裂,所有病例胸膜脏层均保持完整.所有病例均各安置了肋骨-肋骨、肋骨-脊柱钛肋各一组.结果 所有病例均获得随访,平均随访时间14个月(12～18个月),所有病例均已完成了2次延长.术后所有病例躯体平衡获得明显改善,凹侧胸廓扩大,骨盆倾斜平衡恢复,脊柱高度增加,身高平均增长4.4 cm(3～7 cm).所有患儿肺功能检查均较术前有不同程度提高,VCMAX和MVV平均增加35 7%(10.4%～78.4%)和51.7%(8.2%～84.9%).呼吸系统易患感染、活动后气急等现象明显改善.脊柱畸形均有所矫正,Cobb's角测量平均57°(44°～69°),家长对患儿外观改变均表示满意.结论 VEPTR技术对于治疗先天性脊柱侧弯合并胸廓畸形所致的胸腔功能不全综合症显示了一定的效果,肺功能改善,脊柱畸形控制,脊柱生长继续,躯体平衡恢复.其中长期功效和并发症尚待观察.     

乙状结肠重建阴道术治疗小儿阴道畸形的疗效分析

目的探讨乙状结肠重建阴道术治疗小儿阴道畸形的可行性,并总结手术技巧及治疗经验。方法回顾性分析2013—2017年在广州市妇女儿童医疗中心接受阴道重建术患儿的临床资料。其中一穴肛4例,先天型阴道闭锁1例。接受手术时年龄6个月至3岁10个月,体重6～20 kg。结果一穴肛重建手术时间为265～510 min,术中出血量10～50 m L,重建阴道长度6～8 cm,术后患处可见少量分泌物,无异味、狭窄、脱垂,未见明显瘢痕组织。1例先天型阴道闭锁患儿手术时间为335 min,术后阴道伤口无异味、脱垂,稍狭窄,术后1个月出现盆腔积液,膀胱镜检查结果提示成形阴道愈合良好,子宫及阴道交界处可见脓性分泌物,诊断为肠道分泌物积聚,予以生理盐水冲洗,术后一年复查未见明显异常。结论乙状结肠重建阴道术治疗小儿阴道畸形的术后并发症发生率低,治疗小儿阴道畸形安全、有效,但仍需大量的病例积累及长期随访研究。     

Definition of congenital malformations and detection of associations with maternal factors

Data collected from a cohort of 2913 pregnancies were analyzed to determine whether the varying definitions of congenital malformations influence the statistical result in the search for possible etiological factors. According to three different definitions of congenital malformations, three study groups were formed, i.e. structural malformations, all congenital defects, and all disorders or abnormalities with possible prenatal etiology. These consisted of 93, 197 and 334 cases, respectively. The control group consisted of 2579 cases. Positive associations were noted between the study groups and some factors concerning pregnancy, and the social history of the parents. The associations were strongest in the group of structural malformations and became weaker when this group was 'diluted' by other defects with questionable prenatal origin. Hence, when comparisons for evaluating the causality of significant associations in different materials are made, the definition of the concept of congenital malformations should be taken into consideration.     

新生儿先天畸形396例染色体异常核型及其表型临床特征分析

目的 研究新生儿畸形的主要染色体核型及其临床表型.方法 对2006年1月至2012年5月在苏州大学附属儿童医院就诊的396例先天畸形新生儿按常规方法制备外周血淋巴细胞染色体,G显带并进行核型分析;对各型核型异常患儿的临床表型进行统计分析.结果 1.新生儿396例中检出外周血染色体异常核型159例,异常率为40.2％,其中国内外首次报道3例.2.异常核型中以21-三体(唐氏综合征)最为常见,共130例,占81.8％,其中119例为标准型,10例合并涉及D组或G组的罗伯逊易位,1例伴有性染色体异常.3.其他常见异常核型依次为del(5) (p12-14)4例、18-三体4例、45,XO 4例、inv(9) (p11q12-21)4例、X-三体1例、Rob(13;14)1例、8-三体1例、del(18) (q22)1例等.4.染色体病的临床表型有特殊面容147例(92.5％)、先天性心脏病97例(61.0％)、低出生体质量72例(45.3％)、先天性肛门闭锁13例(8.1％)、多发性畸形11例(6.8％)、肠畸形10例(6.2％)、外生殖器异常9例(5.7％)、猫叫样哭声4例(2.5％)、四肢水肿4例(2.5％)、指趾异常6例(3.6％)、先天性脑发育不良6例(3.6％)、颈蹼5例(3.1％)和唇腭裂3例(1.8％)等.结论 染色体核型异常是导致新生儿先天性疾病的重要因素;特殊面容、先天性心脏病、低出生体质量、多发性畸形是新生儿染色体病的主要临床体征.     

Additional congenital defects in anorectal malformations

From 1974 until 1995 a total of 264 (141 , 123 ) patients born with an anorectal malformation (ARM) were referred to the University Hospital Nijmegen in the Netherlands. All additional congenital defects (ACDs) were registered. Special attention was paid to whether the ACDs take part in associations, syndromes, or sequences. One or more ACDs were observed in 67% of the patients. In decreasing order the defects concerned the uro-genital tract (43%), skeleton (38%), gastrointestinal tract (24%), circulation (21%), extremities (16%), face (16%), central nervous system (15%), respiratory tract (5%), and remaining defects (5%). Associations were observed in 49% of the patients, mostly (in 44%) the Vertebral, Anorectal, Cardial, Tracheo-Esophageal, Renal and Limb association. In 5% of the patients syndromes were recognized. Sequences were seen in 2% of the patients. Remarkable is the combination of trisomy 21 and ARM without a fistula. The combination of ARM and the Zellweger syndrome has not been reported before.Conclusion Almost all combinations of ARM and ACDs can be classified as an association, syndrome or sequence. ARM-causing agents affect males and females in equal numbers but lead to different expression in the sexes. The origin of the Omphalocele, Extrophia of the bladder, Imperforate anus, Sacral anomalies complex probably differs from that of other forms of ARM.     

Congenital malformations in the southeast of Sweden--a registry study with validation

A study was made of the occurrence of congenital malformations in the southeast region of Sweden, utilizing all available relevant health registries. Östergötland county had been pinpointed in a routine surveillance as having an increased malformation risk. Various validations of the register data were undertaken and different types of errors were detected. An increased risk was seen, in Östergötland county compared to the reference counties, for specific types of malformations: preauricular appendices, pylorostenosis, uterine/vaginal malformations, foot deformities, limb reduction defects and cardiovascular malformations. Variable classification or registration artefacts explained the excess among the first four conditions. Limb reduction defects were also mis‐coded, but the increased risk in Östergötland county may persist. Conclusion: There is an increased risk of major cardiovascular malformations in Östergötland county compared to the reference counties that also shows an uneven distribution within the county.     

Herbicides and congenital malformations: A review for the paediatrician

The herbicides 2,4,5-T and 2,4-D are relatively non-toxic to primates, in acute exposure. Dioxins, which have occurred as impurities in these two herbicides, manifest universal biological toxicity. The best understood dioxin TCDD, has, in susceptible strains of mice, a very low teratogenic minimal effective dose of 1–10 μg/kg. This fact has engendered an era of uncertainty about the potential teratogenic effects of herbicides, in the context of potential human exposure. This paper reviews current knowledge concerning herbicide teratogenesis following maternal exposure. Because of species specificity of teratogenic agents, it is not possible to extrapolate from effects in lower animals to potential effects in humans. It remains a fact however that all proven human teratogens have parallel animal models. Following maternal exposure to herbicides and to dioxins, it has not been possible to produce teratogenic effects in primates, although fertility may be affected. Epidemiological reports from Hungary, Italy (the ICMESA accident), New Zealand, the United States, Europe and Australia have not revealed any positive evidence to indicate that a human herbicide teratogenic syndrome exists.     

基因芯片筛选先天性肛门直肠畸形相关基因

目的 应用基因芯片筛选先天性肛门直肠畸形(ARM)的相关基因.方法 用Affy-metrix U133 Plus 2.0表达谱芯片对2例高位肛门直肠畸形直肠末端及1例死于非胃肠道疾病患儿直肠末端组织的基因表达谱进行分析.应用RT-PCR的方法对筛选出的7个表达差异基因进行了表达水平的实验验证.结果 肛门直肠畸形直肠末端与正常直肠末端组织中表达差异在2倍以上的基因有776条,其中ARM下调的基因有399条,上调基因377条.差异表达4倍以上的基因259条,其中ARM下调的基因有150条,上调的基因109条.RT-PCR技术验证的7个差异表达基因中,RHOB、HOXA5基因在高位肛门闭锁患儿直肠末端组织中的表达水平高于正常对照,而SOX11、MMP7、SALL1、NKX3-1和EPHB2基因在高位肛门闭锁患儿直肠末端组织中的表达水平明显低于正常对照.结论 基因芯片可有效筛查出肛门直肠畸形发生的相关基因,在ARM的发生发展中有多种类型的基因参与.本研究中基因表达谱的实验结果具有较好的可信度和可靠性.应用基因芯片筛查差异表达基因为先天性肛门直肠畸形的病因及病理生理学研究奠定基础.     

Excess of congenital abnormalities in French-Canadian children with neuroblastoma: A case series study from Montreal

Neuroblastoma is one of the most common cancers of childhood. Some studies have shown an excess of congenital abnormalities in children who have been diagnosed with neuroblastoma. In this study we examined the medical records of all children with neuroblastoma seen at St. Justine Children's Hospital between the years 1977 and 1993. A total of 141 children (131 of French-Canadian ancestry) were included in this study. Twelve children (8.5%) had 21 defined congenital abnormalities (1,490 per 10,000 children). This compared with a rate of 444.3 children with abnormalities per 10,000 live births (4.44%) for all congenital abnormalities in the British Columbia Health Surveillance Registry, 1979–1988 (relative risk 1.91, P = 0.03). Six of the 12 children had cardiovascular malformations. These and previous results suggest that there may be a common developmental origin to neuroblastoma and to some congenital malformations. Genes that control development may be worthy of further study in these children. Med. Pediatr. Oncol. 29:272–279, 1997. © 1997 Wiley-Liss, Inc.