先天性脊柱畸形合并泌尿生殖系统畸形发病情况及相关因素分析

目的 了解先天性脊柱畸形患儿中泌尿生殖系统畸形的发生率并探讨其与多种因素之间的联系.方法 选取2003年3月至2008年11月入院治疗的425例先天性脊柱畸形患儿,术前均行腹部B超了解泌尿生殖系统畸形情况、行脊柱CT了解脊柱畸形及脊柱内神经畸形、行心电图除外心脏异常,出现阳性结果行MRI及超声心动网以确诊.结果 先天性脊柱畸形患儿中泌尿生殖系统的发生率为11.8%(50/425),其发病与胎次、母亲年龄、出生地差异、脊柱畸形的分类、侧弯部位、侧弯方向以及是否合并心血管畸形、椎管内神经系统畸形均无统计学关系.泌尿生殖系统畸形的患儿出生时父亲年龄较无泌尿生殖畸形的患儿父亲年龄大(P=0.018),合并泌尿生殖系统畸形的患儿较易合并肋骨畸形(P=0.011).结论 先天性脊柱畸形患儿合并泌尿生殖系统畸形的发生率较高,需引起临床高度重视,从而给予适当处理.     

先天性肾脏和尿路畸形超声筛查三级转诊体系的高危儿肾盂扩张筛查和随访研究

目的 对0~3月龄高危儿肾盂扩张（RPD）筛查和随访,探讨先天性肾脏和尿路畸形泌尿系统超声筛查三级（社区卫生服务中心-妇幼保健院-儿童专科医院）转诊体系（简称三级转诊体系）实施的可行性。方法 在三级转诊体系中,社区卫生服务中心甄别高危儿并转诊至妇幼保健院,妇幼保健院泌尿系统超声筛查RPD、随访和转诊,儿童专科医院对转诊RPD患儿确诊和制定干预措施。 结果①筛查结果：2010年6月至2012年5月,3 743名0~3月龄高危儿泌尿系统超声筛查RPD阳性率9.0%（338例）,男婴在总的RPD以及轻、中和重度RPD的筛查阳性率均明显高于女婴,但男女婴轻、中、重度RPD构成比差异无统计学意义;②随访结果：285例在1岁时统计随访结果,诊断肾盂输尿管连接处梗阻 3例,巨输管症2例,重复肾、重复上肾积水伴输尿管异位开口1例,其中手术3例;余279例RPD患儿经(5.4±4.5)个月随访,241例RPD恢复正常,其中轻、中和重度比例分别为91.9%、76.3%和22.2%;RPD好转16例,持续17例,加重5例。③三级转诊体系：第2年度较第1年度自愿接受泌尿系统超声筛查高危儿的比例增加（83.0% vs 64.1%）,RPD筛查阳性率未见明显差异（9.5% vs 7.8%）;第1年度较第2年度转诊率及随访率差异均无统计学意义。结论 基于三级转诊体系的高危儿RPD筛查、随访和转诊运行实施效果良好,儿童专科医院需进一步完善培训和转诊机制,妇幼保健院在三级转诊体系中的作用关键,特别是随访和转诊是三级转诊体系的最重要环节。     

儿童先天性肾脏及尿路畸形的研究现状

先天性肾脏及尿路畸形(congenital abnormalities of the kidmey and urinary tract,CAKUT)是由于各种原因所致的,以先天性泌尿系统解剖学异常为临床特征的表型多样的一组疾病,发生率较高.CAKUT是导致儿童慢性肾脏病(chronic kidney disease,CKD)的最主要原因,部分患者可隐匿进展至终末期肾病(end-stage renal disease,ESRD).儿童CAKUT的研究对优生优育有重要意义,其发病机制尚不完全明确,但不少研究证明该病的发病与基因突变、拷贝数变异及环境等多因素有关.另外,采用彩色多普勒超声检查对于发现儿童CAKUT具有明显优势,是筛查的首选方法,进而实行早期相应治疗干预,必将大大降低患儿肾功能的损伤程度,提高患儿的生存率,对于疾病预防意义重大.该文综述近年来儿童CAKUT的流行病学研究、病因学研究、彩超筛查及干预治疗,旨在使医务人员更全面地了解儿童CAKUT,并采取积极的干预措施,延缓CKD的进展从而防止ESRD发生.     

先天性肾脏和尿路畸形诊断治疗进展

先天性肾脏和尿路畸形(CAKUT)是由肾脏和泌尿道胚胎期发育缺陷所致的以先天性泌尿系统结构异常为临床特征、表型多样的一组疾病,是导致儿童期终末期肾病的最主要原因。目前,CAKUT的发病机制尚不完全明确,但不少研究证实该病的发病与基因突变、基因拷贝数变异及环境等多因素有关。利用适宜的影像学方法及一些新型的生物学标志物,能够对CAKUT患者进行早期诊断及预后分析。此外,CAKUT的产前筛查及干预对于预防和延缓CAKUT疾病的发生发展也具有重要意义。现就儿童CAKUT的病因学研究、诊断及治疗进行阐述,旨在使医务人员更全面地了解儿童CAKUT。     

先天性畸形产前超声诊断与临床价值评估

目的探讨产前诊断先天性畸形的超声影像学特点及临床价值。方法总结我院1999年6月～2007年1月接诊的156例产前诊断先天性畸形的临床和超声检查资料并分析。结果典型超声征象：①食管闭锁：羊水过多和胃泡影消失；②十二指肠梗阻：“双泡征”，伴羊水过多；③小肠闭锁：腹部多个囊泡；④脐膨出与腹裂：腹腔脏器于中腹部膨出腹腔外，有包膜为脐膨出，无包膜为腹裂；⑤先天性膈疝：腹腔脏器疝入胸腔伴纵隔、心脏移位及腹围减小；⑥肾积水：肾盂扩张；⑦腹腔囊性肿物：根据囊肿部位、性质、与周围脏器关系等进行诊断；⑧血管瘤、淋巴管瘤：根据瘤体质地、部位和血供情况等进行诊断；⑨脑积水：不同程度和部位的脑室扩张。结论超声检查为先天性畸形产前诊断的主要手段。常见的十二指肠梗阻、脐膨出、腹裂、肾积水等畸形的产前诊断准确率高。了解产前超声检查征象、诊断价值及临床意义，有助于临床医生更好地把握畸形儿病情、向家长解释病情和制定正确的治疗方案。     

经产前超声诊断先天性畸形的外科干预

目的探讨先天性畸形产前超声诊断与小儿外科干预措施的价值。方法总结我院近3年收治25例先天性畸形的超声检查与临床资料。畸形包括消化道9例(36％)，泌尿系7例(28％)，腹壁4例(16％)和其它系统5例(20％)。结果本组25例中24例经手术或产后超声证实了产前诊断，特异性为96％。1例终止妊娠；16例经手术(急诊手术11例)治疗的患儿中13例治愈，2例因合并其他畸形家长放弃治疗，1例死亡；药物注射治愈胸壁淋巴管瘤1例；7例泌尿系畸形均在随诊观察中：结论超声检查是诊断宫内先天性畸形的首选和重要手段。我国先天性畸形产前诊断的水平及范围还很不平衡，本组诊断水平较高与地域有关。多数畸形适于早期手术治疗，而大部分泌尿系畸形需随诊观察。小儿外科医师应积极参与先天性畸形的产前诊断和围产期管理，使患儿得到及时、妥当的治疗，可进一步提高先天性畸形的诊治水平。     

先天性肾脏和尿路畸形的环境因素研究进展

先天性肾脏和尿路畸形受基因和环境因素的共同影响,其中环境因素属于可控因素,研究先天性肾脏和尿路畸形的环境因素将有利于预防其发生。本综述就有关先天性肾脏和尿路畸形的环境因素研究现状进行综述。主要包括：母体妊娠期疾病、妊娠期药物暴露、妊娠期不良生活方式、羊水含量、胎儿出生体重、胎儿性别、胎龄、胎次等因素。     

膀胱皮肤造口术在新生儿尿路畸形中早期应用探讨

目的探讨膀胱皮肤造口术在新生儿尿路畸形患儿中的早期应用。方法回顾性分析我院2003年1月至2006年6月因先天性尿路畸形行膀胱皮肤造口术的患儿资料,包括原发病、临床表现、影像检查、皮肤膀胱造口术后转归等。结果共13例新生儿,均为男婴,手术日龄16～28天,平均22天,其中后尿道瓣膜8例,前尿道瓣膜1例,双侧原发性膀胱输尿管反流4例。膀胱皮肤造口术后半年至1年复查,2例因皮肤膀胱造口狭窄改为膀胱造瘘,1例仍间断反复泌尿系感染,17侧膀胱输尿管反流中6侧反流消失,16侧肾输尿管积水中5侧消失,无肾、输尿管积水及膀胱输尿管反流加重病例。结论尿路畸形新生儿行皮肤膀胱造口术操作简单、易护理,可有效引流尿液,抑制膀胱输尿管反流,改善泌尿系感染,保护肾功能。     

先天性畸形围产期处理的初步体会

目的 总结2年多来10例先天性畸形围产期管理的方法和效果。方法 对经产科B超检查拟诊为食管闭锁、右侧卵巢囊肿、左侧唇裂及右侧胸壁囊肿各1例和十二指肠闭锁、脐膨出及肾积水各2例共10例妊娠25周—39周的孕妇进行了产前咨询。并在分娩后及时转诊、手术治疗或定期随访服务。结果 10例中8例诊断正确，1例产后影像学检查与产前诊断相符，但因21—三体，家长放弃手术治疗，1例脐膨出妊娠27周时人工流产。8例中手术治疗5例(食管闭锁、十二指肠重复畸形、环状胰腺、脐膨出和唇裂)。1例胸壁淋巴管瘤穿刺注药治疗中。2例肾积水正在随访。结论 产前经B超诊断为先天性畸形的，应早期、有针对性地对家长进行有关疾病的诊断治疗、效果及预后的宣传解释。这样会有利于家长对未来子女出生后的手术治疗有思想准备，也会使孕妇心态平稳地度过妊娠中后期或及时下决心停止治疗或中止妊娠，还可明显提前转诊和治疗，有利于提高治愈率。在产前诊断先天性畸形工作中小儿外科医生可以更早地介入并发挥作用。     

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。     

Fetal urinary tract abnormalities detected on maternal ultrasound

Twenty-one cases of fetal urinary tract abnormalities were detected on maternal ultrasound in a 5 year period. Six fetuses died and 13 of the 15 surviving cases have had corrective urological surgery, usually during the neonatal period. Maternal ultrasound provides advanced warning of major urinary tract abnormalities in the newborn. Therefore, appropriate investigations and medical management can be instituted early and potentially destructive urological lesions can be corrected as soon as possible. As yet, antenatal intervention does not seem to be warranted as the most common cause of bilateral upper tract dilatation in the surviving cases in this series was primary reflux, and In the cases that died the urinary abnormalities were not salvagable.     

Antenatally detected urinary tract abnormalities: changing incidence and management

To define the incidence of urinary tract abnormalities detected by antenatal ultrasound and assess changes in postnatal management we conducted a retrospective survey using data bases of the nephro-urology unit, obstetric ultrasound and perinatal pathology departments. The birth population (105,542) of the two Nottingham teaching hospitals between January 1984 and December 1993 was divided into two 5-year cohorts, 1984–1988 and 1989–1993. Detailed fetal scanning at 18–20 weeks gestation was introduced in 1989. During this 10-year period, 201 abnormalities of the urinary tract were noted with a 2:1 male to female ratio. The incidence of abnormalities in the first 5 years was 1 in 964 compared to 1 in 364 in the last 5 years. There was a significant increase in the number detected before 20 weeks gestation (12% in 1984–1988 compared to 62% in 1989–1993). Despite the increased incidence of abnormalities detected, the termination rate remained static between the two 5-year cohorts. Only 3 fetuses had intra-uterine intervention and 173 were live-born. Eight infants subsequently died in association with other major congenital abnormalities. The incidence of transient abnormalities (antenatal dilatation with no abnormality noted on postnatal ultrasound) increased from 6% in 1984–1988 to 18% in the 1989–1993 cohort. A more conservative approach to postnatal management is reflected by 71% of infants having operations between 1984 and 1988 compared to 35% in 1989–1993. Conclusion The advent of detailed fetal scanning at 18–20 weeks gestation has significantly increased the detection rate of urinary tract abnormalities with no significant increase in pregnancy termination rates. The need for antenatal intervention is a rare event and most problems can be managed conservatively both pre- and postnatally. Received: 16 April 1997 and in revised form: 10 November 1997 / Accepted: 10 November 1997     

Mass screening for early detection of congenital kidney and urinary tract abnormalities in infancy

BACKGROUND: Recent widespread use of ultrasound has led to new efforts at screening for congenital kidney and urinary tract abnormalities. However, a standard screening methodology, criteria defining abnormalities, and follow-up procedures remain to be established. In order to establish screening criteria for these abnormalities, we performed a preliminary study in 800 1-month-old infants using provisional methods and criteria. METHODS: Based on the results of preliminary study, we screened 2700 1-month-old infants in a prospective study using the criteria of renal size (longitudinal diameter or=60 mm, or a difference between sides of >or=10 mm), and of pelvic dilatation (Society for Fetal Urology [SFU] grade 2 or higher) as positive at the first ultrasound screening. We used the SFU grading system instead of anteroposterior pelvic diameter measurements for pelvic dilatation. RESULTS: One hundred and twelve (4.1%) of the 2700 infants had abnormalities at the first ultrasound screening, while 18 (0.67%) had congenital kidney and urinary tract abnormalities on further examination. Use of the SFU grading system enabled us to reduce the false-positive rate at first screening, while maintaining a high diagnostic rate. The abnormalities consisted of ureteropelvic junction obstruction in seven infants, megaureter in two, hypoplastic kidney in four, vesicoureteral reflux in six (three were accompanied by hypoplastic kidneys or multicystic dysplastic kidney), multicystic dysplastic kidney in one, and horseshoe kidney in one. CONCLUSION: These results indicate that our screening methods and criteria are useful variables for detecting congenital kidney and urinary tract abnormalities.     

先天性马蹄内翻足早期肌力平衡手术中期及远期疗效对比分析

目的 研究早期采用肌力平衡手术对治疗先天性马蹄内翻足术后中期及远期的疗效对比及原因分析.方法 1957至1993年,采用早期肌力平衡手术治疗CCF970例1 373足(手术年龄平均1岁),采用自行设计的评定标准,对术后16～52年(平均22年6个月)的470例569足进行随访.结果 此次远期随访总优良率为82.07%,较1999年的中期随访总优良率91.83%有明显下降(P<0.05).术后远期疗效与术前畸形程度和手术年龄有明显相关性,术前轻度畸形术后远期优良率与中度和重度畸形优良率差异有统计学意义(P<0.05),主要原因为术前中重度畸形患儿术后远期优良率明显下降.手术年龄为6个月至1岁的患儿术后远期优良率89.34%,均高于其他年龄组,差异有统计学意义(P<0.05),与中期随访结果 一致.结论 采用早期肌力平衡手术纠正先天性马蹄内翻畸形远期效果优良,术后远期优良率较中期降低,可指导l临床早期制定更为全面的手术方案.     

儿童泌尿系统感染诊治进展

泌尿系统感染(UTI)是儿科最常见的细菌感染性疾病之一,约30%的婴幼儿在初次感染6~12个月反复发作。而在有泌尿系统发育畸形的儿童中,约30%的患儿以UTI为首发表现,故UTI可能是潜在肾脏结构异常的前哨事件。婴幼儿UTI常并膀胱输尿管反流等先天性尿路畸形,对于反复感染的高危患儿,易出现肾脏损害及肾瘢痕,进而导致终末期肾病。因此,早期识别、及时治疗和合理管理对改善预后十分重要。现总结近年来国内外相关文献,以期为儿童UTI的诊治提供临床参考。     

Ultrasonography after the first febrile urinary tract infection in children

The importance of ultrasonography after the first febrile urinary tract infection has been recently challenged. The aim of this study was to evaluate the role of ultrasonography in detection of significant non-reflux abnormalities in the kidneys and the urinary tract, and to determine whether these findings influence treatment in these children. The clinical data and ultrasonography results of 155 children admitted to a university hospital with the first febrile urinary tract infection were analysed retrospectively. Renal ultrasonography was abnormal in 23 patients (14.8%). The major portion of these patients (81%) were younger than 2 years of age. Management of nine of these patients was changed based primarily on ultrasonography findings. Four of these patients were treated operatively. Conclusion: Our findings indicate that ultrasonography performed after the first urinary tract infection may offer clinically important information about non-reflux abnormalities in the kidneys and urinary tract that can affect the management of children with these complications.