Shh/Bmp4信号通路在先天性肛门直肠畸形末端肠壁神经系统中的作用

肛门直肠畸形(anorectal malformation,ARM)是小儿外科常见的消化道畸形,手术是目前最主要的治疗方式,但仍有一部分ARM患者术后存在着不同程度的排便功能障碍,影响患者术后生活质量。虽然ARM的具体发病机制及术后排便功能障碍发生机制尚不明确,但有文献指出直肠末端肠壁神经系统(enteric nervous system,ENS)的发育与术后排便功能相关。目前有动物模型实验及相关临床研究证实,Shh/Bmp4信号通路可在ENS发生发展过程中发挥重要的调节作用。     

输尿管膀胱扩大成形术治疗神经源性膀胱

目的介绍我院最近开展的利用输尿管进行膀胱扩大成形术。方法2例均为男性,年龄4岁和12岁,均诊断为神经源性膀胱,其中1例为双侧5级膀胱输尿管返流,采用双侧输尿管下段进行膀胱扩大术;另1例为单侧5级膀胱输尿管返流伴同侧肾无功能,采用单侧输尿管进行膀胱扩大术。结果2例均术后3周拔除膀胱引流管,开始间歇导尿。分别随访2年和6个月,膀胱容量平均增加150%。病例1完全采用间歇性导尿排尿,导尿间隔时间3h,术后逼尿肌不稳定消失,左侧返流消失,右侧返流从5级降至3级;病例2导尿间隔时间4h,偶有经尿道排尿。结论输尿管膀胱扩大成形术是一种治疗神经源性膀胱安全有效的手术方法。     

小儿原发性膀胱输尿管反流的临床研究

目的　探讨小儿原发性膀胱输尿管反流的发病机制、临床特点、肾损害评价、治疗及预后。方法　回顾性研究 1990～ 2 0 0 2年复旦大学附属儿科医院 5 0例小儿原发性膀胱输尿管反流 ,对反流程度、尿路感染、肾疤痕形成、尿液分析及血管紧张素转化酶 (ACE)基因型进行了分析 ,并将药物和手术治疗组的随访结果进行比较。结果　 5 0例中双侧反流者 2 2例 (44 % ) ,单侧反流者 2 8例 (5 6 % ) ;39例行膀胱尿道造影检查发现反流Ⅰ度2 9 5 % (2 3/ 78) ,Ⅱ度 7 7% (6 / 78) ,Ⅲ度 14 1% (11/ 78) ,Ⅳ度 4 1 0 % (32 / 78) ,Ⅴ度 7 7% (6 / 78)。尿液 β2 微球蛋白、尿视黄醇结合蛋白、N乙酰半胱氨酸异常升高与肾疤痕形成相关 (P <0 0 5 ) ,血ACE基因型ID或DD型与肾疤痕形成相关 (P <0 0 5 )。药物与手术治疗组尿路感染复发率、肾疤痕形成率及反流有效控制率无显著差别。结论　小儿原发性膀胱输尿管反流需要及早诊断 ,同时通过对尿液微量蛋白及血ACE基因型检测 ,对肾损害作出预测 ,建立个体化的有效的治疗方案     

后尿道瓣膜切除术后尿动力学研究

目的探讨后尿道瓣膜患儿行经尿道镜瓣膜切除术后的尿动力学改变.方法回顾性分析2007年1月至2008年12月本院收治的17例因后尿道瓣膜经尿道镜瓣膜切除术患儿的临床资料.均采取问卷调查、排尿性膀胱尿道造影、静脉肾盂造影、泌尿系超声、尿动力学检查等进行随访,重点分析尿动力学检查结果.结果诊断时常见症状排序依次为排尿困难、泌尿系感染症状、尿失禁等.术前发现肾积水17例,膀胱输尿管反流9例.均行经尿道镜瓣膜切除术.平均随访时间27(15～40)个月.临床症状均消失或减轻,无尿道狭窄、尿道瘘,造影检查提示解剖性梗阻均已解除,9例肾积水较前好转;8例存在膀胱输尿管反流.16例(94.1%)存在尿动力学异常,7例(41.2%)表现为膀胱顺应性降低,平均最大逼尿肌压力降低,逼尿肌不稳定;7例(41.2%)表现为残余尿增多.8例(47.1%)膀胱容量低于同年龄正常预测值的80%.结论后尿道瓣膜切除术后膀胱功能异常仍然存在,尿动力学检查能及时发现膀胱功能损害及其程度,建议PUV患儿术后定期行尿动力学检查,以了解膀胱功能,保护上尿路.     

肾上腺皮质功能减退药物治疗进展

<正>肾上腺皮质功能减退(adrenal insufficiency,AI)是指各种原因导致的肾上腺皮质激素分泌不足,如不及时治疗,会有很高的病死率及并发症发生率。该病可由肾上腺皮质本身的病变或功能障碍所致(原发性AI),也可因为下丘脑-垂体-肾上腺(hypothalamic-pituitary-adrenal,HPA)轴功能损伤(继发性AI或获得性AI)引起。明确病因对于评估患者整体状况及制定适当治疗方案至关重要。自从20世纪50年代临床使用糖皮质激素替代治疗以来,挽救了无数AI患者的生命,近20年来类     

儿童原发性肾病综合征血管紧张素Ⅰ转换酶基因多态性研究

目的　探讨血管紧张素I转换酶 (ACE)基因多态性在儿童原发性肾病综合征 (PNS)中的作用。方法　PNS76例 ,施行了肾穿刺活检术 4 9例 ,对照组为健康儿童 5 0例 ,检测ACE基因和血清ACE水平。结果　ACE基因多态性在PNS单纯型和肾炎型组、频复发组和非频复发组、肾上腺皮质激素 (激素 )效应组与对照组一样 ,以插入型 (II基因型 )分布频率高 ;耐药组和肾活检病例尤其局灶性节段性肾小球硬化 (FSGS)明显显示缺失型 (DD基因型 )和D等位基因占优势 ,临床耐药的肾活检病例也以DD型和D等位基因明显占优势。PNS和对照组的血ACE水平由高至低排列的基因型依次是DD型、ID型和II型 ;PNS治疗前ACE(85 6 6 7± 17 90 7)U/L ,与对照组 (6 0 13± 2 1 4 1)U/L比较 ,t =- 2 5 96 ,P <0 0 5 ,差异有显著性 ;激素治疗 1周血ACE(4 5 375±18 35 3)U/L ,治疗 4周血ACE(2 8 6 6 7± 7 6 33)U/L ,治疗前后比较 χ2 =12 ,P <0 0 5 ,差异有显著性。结论　D等位基因影响了PNS治疗的反应性 ;D等位基因的血ACE水平高于I等位基因 ,ACE基因在一定程度上调控了血ACE水平 ;激素可降低血ACE水平。     

尿动力学检查对小儿神经源性膀胱手术方式选择的意义

目的 探讨尿动力学检查对小儿神经源性膀胱手术方式选择的意义.方法 回顾性分析我院手术治疗的神经源性膀胱患儿的资料41例.所有患儿术前完成B型超声、排尿性膀胱尿道造影(voiding cystourethrogram,VCUG)、99mTc-DTPA肾动态显像(DTPA)、尿动力学检查.其中34例行储尿期+排尿期膀胱压力描记.结果 尿动力学检查提示逼尿肌过度活动23例,活动低下11例;括约肌过度活动21例,活动低下13例.根据患儿不同的临床症状,参考尿动力学检查结果,选用不同的手术方式.具体术式包括:回肠代膀胱扩大+阑尾代可控性膀胱流出道(Mitrofanoff)+阑尾代顺行结肠灌洗造瘘(Malone)+膀胱颈悬吊(Sling)2例,回肠代膀胱扩大+Mitrofanoff+ Sling 5例,回肠代膀胱扩大+输尿管再植+ Mitrofanoff+ Sling 7例,回肠代膀胱扩大+Mitrofanoff+右肾切除+Sling 1例,回肠代膀胱扩大+输尿管再植+ Mitrofanoff 18例,回肠代膀胱扩大+Mitrofanoff 2例,输尿管再植+Mitrofanoff 3例,膀胱颈封闭+回肠代膀胱扩大+Malone+回肠卷管代可控性膀胱流出道(Monti)1例,Mitrofanoff 2例.术后39例患儿获得随访,随访时限3个月～5年,7例出现术后并发症,大部分患儿术后恢复满意.结论 小儿神经源性膀胱的手术方式选择主要依据其临床症状以及超声、影像、同位素检查结果,尿动力学检查可明确膀胱尿道功能障碍的类型,对于手术的方案制定也有重要参考意义.     

小儿神经源性膀胱的治疗对策与理念

一、概述 神经源性膀胱(neurogenic bladder,NB)是一类由于神经性病变导致膀胱、尿道功能失常产生排尿障碍的疾病,病因包括中枢性、外周性神经病变、手术、外伤及感染等造成的神经系统损伤.小儿主要由先天性脊髓发育不良和脊髓栓系引起,常见脊膜膨出、骶骨发育不全及脊髓纵裂等,肾脏损伤和肾衰竭是其最严重的并发症[1].     

先天性肛门直肠畸形相关排尿异常的尿动力学评估北大核心CSCD

先天性肛门直肠畸形(ARM)占小儿消化道畸形的首位,发病率在新生儿中为1/5000-1/1500。该病常表现为肛门狭窄或肛门闭锁,伴或不伴瘘管和泄殖腔畸形。其中泌尿生殖系统伴发畸形最多见,发生率为26%-55%。35%-50%的儿童出现脊髓束末梢畸形或神经源性下尿路功能障碍,这也是ARM合并排尿异常症状的常见原因。尿动力学检查(UDS)是评估ARM合并下尿路功能变化最好的方法,可以对膀胱尿道功能进行客观分类指导并制定精准治疗方案和随访治疗效果。现就ARM合并排尿异常的原因及相关UDS评估的进展进行综述,为临床提供参考。     

尿道下裂术后尿路感染的原因及治疗分析

目的探讨尿道下裂术后尿路感染的原因及处理措施。方法本院于2012年1月至2016年6月期间收治尿道下裂术后尿路感染病例44例,年龄1岁10个月至25岁,平均7岁6个月。均完善相关检查确定尿路感染原因,在有效抗生素的合理应用下,采用相应措施对因治疗。结果全部病例尿液培养以G-杆菌为主。41例存在单一致感因素,尿道狭窄排在首位,此外还有合并先天性畸形以及膀胱直肠功能障碍等少见感染危险因素;有3例尿路感染是上述致感因素综合作用的结果。在对因处理中,对27例尿道狭窄予手术解除梗阻,1例定期探条扩张;5例前列腺囊予手术切除或造口,6例坚持前列腺囊按摩;3例膀胱输尿管反流予口服抗生素保守治疗;2例后尿道瓣膜切开;4例加强直肠膀胱功能训练控制相关尿感。44例中,失访3例,其余随访1~54个月,平均21个月,其中保守治疗的2例膀胱输尿管反流、3例前列腺囊、2例单纯残余尿增多患者仍存在反复尿路感染。结论尿道下裂术后尿路感染的病因具有多样性,尿道狭窄排在首位,应注意评估综合致感因素并进行针对性治疗。     

Urinary incontinence and vesicourethral dysfunction in pediatric surgical conditions

The most common cause for urinary incontinence in children with pediatric surgical conditions of the pelvic region and perineum is lower urinary tract dysfunction caused by concomitant sacral agenesis, especially in children with anorectal malformations. Another common cause is iatrogenic pelvic nerve damage secondary to reconstructive surgery. Moreover, an intrinsically altered pelvic floor anatomy as seen in some cases of complex cloacas, or disruption of pelvic floor muscles with consecutive loss of supportive structures, as in sacrococcygeal teratoma, should also be taken into consideration. It is important to understand that the causes of urinary incontinence in these children are not isolated problems concerning only the urinary tract. They may have the same negative impact on anorectal function as they have on the bladder and urethral sphincter. Therefore, children with pediatric surgical conditions of the pelvic and perineal region often will present with a combination of both fecal incontinence caused by anorectal dysfunction and urinary incontinence caused by vesicourethral dysfunction. The additional morbidity caused by urinary incontinence may have an enormous impact on the patient's life and well being, not only with regard to physical disability, but also in terms of emotional problems, social handicap, and socioeconomic burden. It is obvious that a patient's quality of life will be significantly reduced if he or she suffers from both fecal and urinary incontinence. Therefore, an integrated approach to the management of both vesicourethral and anorectal dysfunction should be developed to achieve the optimum care for these children.     

Severe ROP in twins after blockage of the renin-angiotensin system during gestation

Blockage of the renin-angiotensin system (RAS) during pregnancy is known to cause serious dysfunction of many organs of the foetus and newborn. Angiotensin II is an angiogenic factor and angiotensin-converting enzyme (ACE) inhibitors prevent retinal neovascularisation and their use in preventing proliferative retinopathy of prematurity has been suggested. We report on twin girls born after 32 gestational weeks, who were exposed to blockage of the RAS during gestation, had severely reduced retinal vasculature and developed severe retinopathy of prematurity (ROP) despite receiving very little extra oxygen. CONCLUSION: It is likely that ACE inhibitors and angiotensin receptor blockers not only reduce pathological neovascularisation but also normal vascularisation of the eyes and other organs.     

The renin-angiotensin system in the development of the congenital anomalies of the kidney and urinary tract

PURPOSE OF REVIEW: Recognition of the dramatically expanded functional repertoire of the renin-angiotensin system now includes a role in morphogenesis of the kidney and urinary tract. On the basis of published data, the article presents formulations of mechanisms through which the system operates. RECENT FINDINGS: Studies in humans and animals carrying defective angiotensin-related genes have provided unequivocal evidence that the renin-angiotensin system is involved in the normal development of both the kidney and the urinary tract. Angiotensin exerts its function through at least two different types of receptors, AT1 and AT2. AT1 mediates establishment of the ureteral peristaltic machinery, while AT2 mediates the early kidney and urinary tract morphogenesis. Disruption in receptor functions promotes development of congenital anomalies of the kidney and urinary tract. SUMMARY: Angiotensin is involved in multiple steps of normal development of the kidney and urinary tract through two types of receptors. This takes place in concert with other functionally overlapping genes.     

肾素-血管紧张素系统与高血压发育程序化

大量研究表明生命早期不良刺激与成年期的高血压的发生密切相关,在此基础上,有学者提出血压的"发育程序化"理论.肾素-血管紧张素系统是机体维持血压和心血管稳态的重要调节系统,而且在胚胎组织器官的发生发育中发挥重要作用.生命早期不良环境的刺激可在循环、组织局部等多水平影响肾素-血管紧张素系统的表达,进而影响其调节平衡,并调控后期的血压.该文就生命早期不良刺激对肾素-血管紧张素系统影响及其与高血压发育程序化的关系展开综述.     

关于神经母细胞瘤外科治疗的几点思考CSCD

神经母细胞瘤手术复杂危险,极具挑战。尽管外科手术的水平高低难以被科学定量评估,且这种艰苦手术对于患儿生存获益的贡献还有不同的意见,但就神经母细胞瘤治疗而言,外科手术仍然是必须的,而且要努力做到更好。临床应努力创新各种技术方法,拓展微创手术,提高神经母细胞瘤的外科治疗效果。     

Management of daytime urinary incontinence and lower urinary tract symptoms in children

Lower urinary tract symptoms, particularly urgency, frequency and incontinence are common in school-aged children but are often overlooked. They may cause considerable physical, social and psychological difficulties to children and their families, and usually are manifestations of underlying non-neurogenic voiding disorders. The differential diagnoses include overactive bladder syndrome, dysfunctional voiding and vaginal reflux as well as less common conditions like giggle incontinence, voiding postponement, pollakiuria and diabetes insipidus. In this paper, we discuss an evidence-based approach to the management of conditions causing daytime urinary incontinence and lower urinary tract symptoms in children from a general paediatrician's perspective.     

Relationship of bladder dysfunction with upper urinary tract deterioration in cerebral palsy

Although lower urinary tract dysfunction (LUTD) in patients with cerebral palsy (CP) has been previously documented by clinical observations and urodynamic tests, its correlation with upper urinary tract deterioration (UUTD) has not been demonstrated. This paper documents symptoms and urodynamic findings of LUTD and their relationship with UUTD in 33 children with CP. By sonography, 4 of these children were found to have UUTD. Age was found to correlate with UUTD, but gender difference and mental or motor functions did not. When comparing urinary symptoms with UUTD, incontinence (n = 31) did not correlate, but on the other hand symptoms of detrusor sphincter dyssynergia (interrupted voiding, urinary retention, hesitancy; n = 5) and culture proven febrile urinary tract infections (n = 4) did. Abnormal urodynamics findings were not diagnostic. We conclude that, apart from incontinence, dysfunctional voiding symptoms and febrile urinary tract infections are valuable indicators of UUTD.     

Lower urinary tract dysfunction in cerebral palsy

The clinical features and management of 27 children with cerebral palsy referred with symptoms of lower urinary tract dysfunction were reviewed. The mean age at referral was 9.9 years. Daytime urinary incontinence was the commonest presenting symptom. Videourodynamic studies were abnormal in 23 patients (85%). Only two children had evidence of upper renal tract damage. Treatment was determined by urodynamic findings, and led to improvement in symptoms in all patients for whom there was follow up information. Urinary incontinence may be improved or cured in children with cerebral palsy. These children would therefore benefit from early referral for assessment and treatment.     

Evaluation of lower urinary tract dysfunction in Turkish primary schoolchildren: An epidemiological study

ObjectiveThe aim was to determine the prevalence of voiding dysfunction and its related risk factors in Turkish schoolchildren.Materials and methodsA randomly selected, cross-sectional study was conducted using a self-administered and previously validated questionnaire. The questionnaire consisted of two parts. The first part included personal demographic and familial information, and the second part included the Dysfunctional Voiding and Incontinence Scoring System (DVISS). The questionnaires were given to 4668 children between 6 and 15 years of age, which were completed by the parents and children together. The children with a score of ≥9 were accepted as having lower urinary tract dysfunction (LUTD).ResultsThe data were collected from 4016 children (the response rate was 86.0%), including 48.6% boys and 51.4% girls. The mean age was 10.5 ± 2.2 years. The overall frequency of LUTD was 9.3%. While the 6-year-old children had the highest frequency (23.1%) of LUTD, this rate was 7.9% at the age of 10, and the children aged 14 years had the lowest frequency (4.9%), (p < 0.001). Lower urinary tract symptoms were significantly more common in girls (7.6%) than in boys (3.2%) only for the older age group (between 12 and 15 years of age). Compared with normal children, those with LUTD (with a score of ≥9) had the following risk factors: less educated parents, a parent that had lower urinary tract symptoms when he or she was a child, more persons per room (≥2 persons), more siblings (≥4 siblings) at home, past medical history of urinary tract infections, and squatting position (in girls).ConclusionsLower urinary tract problems are one of the most important and ongoing health problems in childhood. Determining the prevalence of lower urinary tract problems in children and their related risk factors is the first step to managing and reducing the number of children suffering from voiding problems.