成人肾盂输尿管连接部梗阻的手术治疗

目的 总结成人肾盂输尿管连接部梗阻的诊治经验。方法 对我院1990年7月至2003年6月收治的56例成人肾盂输尿管连接部梗阻患者的病因、诊断及治疗结果进行回顾性分析。结果 肾盂输尿管连接部狭窄引起梗阻者46例(82．1％)，其中3例为双侧；粘连带压迫者3例(5．3％)，输尿管肾盂高位连接者4例次(7．3％)，异位血管压迫者3例次(5．3％)。共行手术59例次，Anderson—Hynes离断式肾盂成形术47例次，肾盂Y—V成形术4例，纤维条索松解3例，异位血管切断3例，肾切除术2例。本组病例除2例肾切除者外，余54例均于术后3个月至1年进行复查随访，50例痊愈。总治愈率92．8％。4例(7．2％)发生再狭窄，二次行肾盂成形术后均痊愈。结论 IVU和RU是诊断成人肾盂输尿管连接部梗阻的主要方法，Anderson-Hynes离断式肾盂成形术是治疗成人肾盂输尿管连接部梗阻的首选术式。     

Transient minimal hydronephrosis on contralateral kidney in infants with unilateral hydronephrosis: Is it an early sign of worsening of the affected kidney?

Background/aim The criteria for surgical management of ureteropelvic junction obstruction are not well-defined, and there is a risk for loss of renal function before the operation. In this context, certain changes in contralateral kidney had been investigated in order to increase the sensitivity of diagnosis. In this study, we aimed to investigate whether contralateral transient minimal hydronephrosis (CTMH) can be considered as an “early alarm” sign for worsening of the affected kidney in infants with hydronephrosis.Materials and methods A total of 182 infants (92 surgically treated and 90 conservatively followed-up) with unilateral hydronephrosis were retrospectively analyzed. Ultrasonography and renal scan findings were evaluated. Correlation between the appearance of CTMH, contralateral compensatory hypertrophy (CCH) on ultrasonography, and prognosis of the affected kidney were evaluated.ResultsAmong the surgically treated patients, 18 (19.6%) patients developed CTMH on average 7 months (0–13 months) before surgery. Among these 18 patients with CTMH, 12 patients (66.6%) had loss of renal function preoperatively, while this ratio was 29.7% on their counterparts (p = 0049). CCH was observed in 31 (33.7%) individuals in surgically treated patient group including all 18 patients with CTMH, while none of the conservatively followed-up patients developed CCH and/or CTMH. In the multiple logistic regression analysis, among the variables investigated, CTMH was found as an independent predictor of the deterioration in the affected kidney and of the poor prognosis (p = 0.011 and p = 0.0004, respectively).Conclusion In our study, among the variables investigated, CTMH was found as an independent predictor of the deterioration in the affected kidney and poor prognosis in infants followed-up with isolated unilateral hydronephrosis. Additionally, CTMH can be considered as an “early alarm” sign for worsening of the affected kidney and the need for surgical intervention.     

Aberrant differentiation of urothelial cells in patients with ureteropelvic junction obstruction

Aim: To investigate the urothelial changes in the pathogenesis of ureteropelvic junction obstruction (UPJ-O). Methods: A total of 12 patients of UPJ-O were respectively studied. The expression of Annexin A7, Annexin A11, EGFR, Keratin 5, uroplakin III, and SMA in the urothelium of obstructed UPJ segment and of the normal ureter below the obstructed segment were determined by immunofluorescence. Transmission electron microscopy was used to determine the morphological changes in UPJ epithelium in compared to normal ureteral epithelium. Results: We found that Annexin A7, Annexin A11, EGFR, Keratin 5, and SMA were upregulated, while uroplakin III was downregulated in the urothelium of UPJ-O patients. Furthermore, ultrastructural analyses showed that intercellular spaces between urothelial cells were dilated and the number of microvilli on superficial cells was increased in UPJ-O patients. Conclusions: We propose that a disrupted urothelial barrier in UPJ-O may results in urothelial inflammatory response and truncated differentiated urothelial cells, which may play an important role in the development and pathogenesis of UPJO.     

Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: “The Ochoa syndrome”

Seven patients (4 females, and 3 males) born in unrelated families, one of them consanguineous (first cousins), were affected by peculiar facies and gestures while smiling and crying, and by hydronephrosis, hydroureter and intravesical stenosis of the ureter, abnormal caliber of the urether in the prostatic and membranous portions, urethral valves, abnormal bladder with trabeculation, and diverticula associated with severe hypertrophy of the mucosa with sclerotic changes. The genetic analysis of these families indicates that the condition is probably autosomal dominant, with variable expressivity and incomplete penetrance. The syndrome represents alteration of facial and urinary developmental fields. The peculiar facies allows early recognition of the condition, and this can be helpful for early assessment and treatment, leading perhaps to a better prognosis.     

Pathophysiological effect of bladder outlet obstruction on the urothelium

Bladder outlet obstruction (BOO) and associated lower urinary tract symptoms are major urological issues that significantly affect patient’s quality of life and may lead to severe complications. The prevalence of both is increasing each year, raising the burden to health system. Therefore, casual and symptomatic treatment should be of great importance. However, management of symptoms is often difficult as their pathophysiology is multifactorial and not well elucidated. Recently urothelium has gathered much attention as one of the potential causal agents. It has been suggested that in addition to its barrier function, urothelium regulates transport through blood-urine barrier and is a part of “sensory web” by which it modulates afferent input. In this review we focus on adjustment of urothelium related to BOO in terms of its ultrastructure, barrier and transport function, and impact on “sensory web.”     

Phocomelia,ectrodactyly, skull defect and urinary system anomaly: Schinzel-phocomelia syndrome?

This report describes a girl with phocomelia of the right upper limb, ectrodactyly, sacral hypoplasia and a large skull defect, but with normal growth and mental development. Ultrasonography and intravenous pyelography showed bilateral hydronephrosis and dilated ureters. We conclude that this patient may represent Schinzel-phocomelia syndrome with additional urinary tract anomalies.     

单中心6年先天性肾脏和尿道畸形病因构成分析

目的分析2005至2010年复旦大学附属儿科医院先天性肾脏和尿道畸形（CAKUT）诊断情况,为CAKUT的早期诊断提供线索。方法系统提取住院诊断为CAKUT病例的病史资料,将三聚氰胺事件结石筛查作为特殊暴露因素,与正常暴露因素下进行比较,分析CAKUT病种构成比、首次入院的病因和影像学检查。结果 6年间1358例CAKUT患儿进入分析,在重复入院只计1次的前提下CAKUT占同期住院患儿的1.33%（1358/102442）。男913例,女445例,男女比例为2.05∶1;首次入院时平均年龄为（3.0±3.4）岁。①正常暴露因素下CAKUT的住院构成比2005至2010年呈缓慢增高趋势（P〈0.05）,CAKUT的住院构成比特殊暴露因素较正常暴露因素下高0.67%和0.26%,2008至2009两个年度多筛查出112例达到手术干预指征的CAKUT病例,占同期正常因素暴露下达到手术干预指征CAKUT病例的24.4%[112/（227＋232）]。②CAKUT构成比排序前4位的病种分别为肾盂输尿管连接处梗阻（PUJO）、膀胱输尿管反流（VUR）、双集合系统和输尿管膀胱连接部梗阻（UVJO）,占总CAKUT病例的79.6%;③首诊通过产前B超检查发现异常406例（29.9%）,以PUJO、UVJO和输尿管膨出比例最高;48.5%（658/1358）CAKUT患儿有泌尿系统症状和体征（腹部症状、血尿、排尿异常、尿路感染伴发热和尿路感染）;尿路感染伴发热占41%（270/658）,为CAKUT病种主要的症状,〈2岁患儿是≥2岁患儿的3.2倍（206/64）;其他症状和体征均为≥2岁患儿明显多于〈2岁患儿。98.0%的CAKUT患儿进行B超检查,除VUR的B超异常检出率为68.5%外,其他CAKUT病种的B超异常检出率均〉94.0%;根据B超检查和临床表现,选择性进行了功能状态检查（DTPA、DMSA）1203例,形态学检查（MR、CT或IVP）1009例,反流情况（MCU）400例。结论 CAKUT构成比以PUJO、VUR、双集合系统和UVJO最为常见,泌尿系统B超筛查CAKUT的准确性较好。在人群中常规筛查可检出CAKUT,其成本效益有待进一步研究。     

Renal parenchyma impairment characterization in partial unilateral ureteral obstruction in mice with intravoxel incoherent motion‐MRI

Ureteropelvic junction obstruction constitutes a major cause of progressive pediatric renal disease. The biological mechanisms underlying the renal response to obstruction can be investigated using a clinically relevant mouse model of partial unilateral ureteral obstruction (pUUO). Renal function and kidney morphology data can be evaluated using renal ultrasound, scintigraphy and uro‐magnetic resonance imaging (uro‐MRI), but these methods are poorly linked to histological change and not all are quantitative. Here, we propose to investigate pUUO for the first time using an intravoxel incoherent motion diffusion sequence. The aim of this study was to quantitatively characterize impairment of the kidney parenchyma in the pUUO model. This quantitative MRI method was able to assess the perfusion and microstructure of the kidney without requiring the injection of a contrast agent. The results suggest that a perfusion fraction (f) reduction is associated with a decrease in the volume of the renal parenchyma, which could be related to decreased renal vascularization. The latter may occur before impairment by fibrosis and the findings are in accordance with the literature using the UUO mice model and, more specifically, on pUUO. Further investigation is required before this technique can be made available for the diagnosis and management of children with antenatal hydronephrosis and to select the optimal timing of surgery if required.     

Primary bladder neck obstruction may be determined by postural imbalances

Primary bladder neck obstruction (PBNO) is a frequent under-investigated urological condition in which the bladder neck fails to open adequately during voiding. In the majority of cases no known etiological factor can be found.In this study we propose a new hypothesis to explain the origin of the disease in young male patients with no neurological disorders. We suggest a possible role of an unbalanced biomechanics of the pelvis on urethral sphincters activity and on functional bladder capacity. To support the proposed hypothesis, we present pilot gait analysis data of young male patients with primary bladder neck obstruction.     

Persistent airflow obstruction in asthma of patients with Churg–Strauss syndrome and long-term follow-up

Background:  Little is known about the long-term outcome of airflow obstruction in asthma of patients with Churg–Strauss syndrome (CSS).
Methods:  We conducted a retrospective study of 24 consecutive patients (aged 41.1 ± 13.5 years) with CSS in a single center. All had asthma (starting 8.1 ± 9.5 years prior to the diagnosis of CSS), blood eosinophilia (6.1 ± 4.4 × 10⁹/l) and systemic manifestations of CSS. Antineutrophil cytoplasmic antibodies were found in 7 of 22 tested patients. Seven patients had smoked (a mean of 10 pack-years). All patients received oral corticosteroids, 11 cyclophosphamide and 23 inhaled corticosteroids.
Results:  Airflow obstruction was found in 14 patients (70%) at diagnosis, and in 11 of 22 patients (50%) at the time of the clinical remission of CSS. The mean postbronchodilator FEV1/FVC and FEV1 were 69 ± 12% and 74 ± 21% of predicted at diagnosis ( n  = 20); 71 ± 10% and 92 ± 19% of predicted at the clinical remission ( n  = 22); and 64 ± 13% and 80 ± 21% at last visit ( n  = 13), respectively. During follow-up, postbronchodilator FEV1 increased by 30 ± 28% in six patients with FEV1/FVC < 70% despite inhaled therapy who received higher dose of oral corticosteroids. At last visit, 5 of 13 patients (38%) with more than 3 years of follow-up had persistent airflow obstruction as defined by postbronchodilator FEV1/FVC < 70% and FEV1 < 80% of predicted.
Conclusion:  Airflow obstruction due to uncontrolled asthma is present despite corticosteroids in many patients at diagnosis and at clinical remission of CSS, and during follow-up. It may be still partly reversible with increased oral corticosteroid treatment.     

半胱氨酸蛋白酶抑制剂C与肾移植后尿路梗阻患者的肾功能

背景：半胱氨酸蛋白酶抑制剂C不被肾小管分泌和重吸收,近年来被认为是一种非常理想的评价肾小球滤过率的指标。 目的：探讨肾移植后输尿管狭窄患者血清半胱氨酸蛋白酶抑制剂C水平变化及其在肾功能损伤诊断中的价值。 方法：选取2007年4月至2011年4月于深圳市第二人民医院泌尿外科及广州华侨医院泌尿外科行肾移植并于移植后发生输尿管狭窄伴肾功能不全的患者18例作为病例组,同时纳入同期年龄性别与病例组相匹配的健康体检者63名作为对照组。分别于输尿管狭窄治疗前及治疗后1个月测定患者血清半胱氨酸蛋白酶抑制剂C、肌酐、尿素氮水平并分析其相关性。 结果与结论：与对照组比较,病例组输尿管狭窄治疗前半胱氨酸蛋白酶抑制剂C、血肌酐和尿素氮水平均显著增高(P < 0.01);治疗后1个月,病例组半胱氨酸蛋白酶抑制剂C、血肌酐和尿素氮水平较治疗前显著降低(P < 0.01)。相关分析结果显示,肾移植后输尿管狭窄患者血清半胱氨酸蛋白酶抑制剂C水平与血肌酐和尿素氮水平呈正相关。提示血清半胱氨酸蛋白酶抑制剂C可作为肾移植后肾功能恢复情况的监测指标。     

A case with dextrocardia, ventricular septal defect, persistent left superior vena cava and drainage of the great cardiac vein into the left internal thoracic vein

A 17-month-old female patient was operated on for ventricular septal defect and pulmonary stenosis. During the operation several cardiac anomalies were observed these were dextrocardia, ventricular septal defect, persistent left superior vena cava, drainage of the great cardiac vein into the left internal thoracic vein and a pericardial pouch. These anomalies have not previously been reported together.     

Familial aggregation of “apple peel” intestinal atresia and cardiac left‐sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations

“Apple peel” intestinal atresia is a rare form of small bowel atresia, in which the duodenum or proximal jejunum ends in a blind pouch and the distal small bowel wraps around its vascular supply, in a spiral resembling an apple peel. The etiology of “apple peel” intestinal atresia is presently unknown, although a congenital or acquired intestinal vascular accident can have a role in the pathogenesis. We report a family in which the proband affected by “apple peel” intestinal atresia, had a sibling (an interrupted pregnancy), and a paternal cousin with cardiac left‐sided obstructive lesions. Molecular testing for NOTCH1 gene was carried out in the proband, because pathogenic mutations in this gene have been associated with familial and sporadic cardiac left‐sided obstructive lesions and vascular anomalies, both isolated or within the spectrum of the Adams‐Oliver syndrome (AOS). The heterozygous c.2734C>T (p.Arg912Trp) NOTCH1 variant was found in the proband with “apple peel” intestinal atresia and in his father. This result argues for a possible causal relationship between NOTCH1 gene mutations and some forms of intestinal defects, through a vascular mechanism. The spectrum of NOTCH1‐associated malformations is widened. Genetic counseling should take into account intrafamilial variable clinical expression and incomplete penetrance.     

基于PIV技术的人体上呼吸道流场测量实验装置的构建

目的针对人体上呼吸道气流运动形成涡结构、流动分流、二次流等特点,研制基于粒子图像测速（particle image velocimetry, PIV）技术的人体上呼吸道流场测量实验装置,为开展人体上呼吸道流场特性实验研究提供平台。方法 基于完整人体上呼吸道医学扫描图像制备透明的实物模型,通过选择合适的气路系统,结合二维PIV系统搭建整套实验装置,并利用该装置对人体上呼吸道流场速度进行初步实验,将实验结果和数值仿真结果进行对比。结果呼吸流量为30 L/min稳态呼吸模式下,实验装置测得的气流在口腔上部有涡结构的形成,口腔下部贴近舌苔上部及口腔中部的气流速度较高,其他部位气流速度较低,与数值仿真结果较为一致。结论 基于PIV技术的人体上呼吸道流场测量实验装置合理可行,运行可靠,可用于人体上呼吸道内气流组织形式和涡量分布等测量,并能够实现对数值仿真的验证。