Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are a well-documented risk factor for the development of urinary tract infection (UTI) in children. Prevention of UTI in this group of patients ...Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are a well-documented risk factor for the development of urinary tract infection (UTI) in children. Prevention of UTI in this group of patients is advocated due to their increased risk of renal scarring, hypertension and end stage kidney failure. Methods: A 10-year retrospective review of CAKUT patients at the Johannesburg Academic Hospital, who were placed on prophylactic antibiotics over a certain period was done. The rate of UTI, the types of causative organisms isolated and the efficacy of prophylactic antibiotics in preventing UTI were documented. Results: Thirty-six (36) out of 134 patients had been started on prophylactic antibiotics after the diagnosis of CAKUT was made. There was a statistically significant association between the use of prophylactic antibiotics and the rate of UTI (p Conclusion: Antibiotic prophylaxis was very effective in decreasing the rate of UTI in our cohort of patients with CAKUT.展开更多
目的探究超声检查对隐睾、隐睾合并先天性肾脏和尿路畸形(Congenital Anomalies of the Kidney and the Urinary Tract,CAKUT)患儿病情诊断的作用以及评估隐睾手术效果的价值。方法选取2019年7月至2021年5月于我院就诊的101例疑似隐睾...目的探究超声检查对隐睾、隐睾合并先天性肾脏和尿路畸形(Congenital Anomalies of the Kidney and the Urinary Tract,CAKUT)患儿病情诊断的作用以及评估隐睾手术效果的价值。方法选取2019年7月至2021年5月于我院就诊的101例疑似隐睾患儿为研究对象,对其行体格、实验室检查与彩色多普勒超声、腹腔镜探查。以腹腔镜探查结果为金标准,分析彩色多普勒超声对小儿隐睾诊断的准确性(准确度、敏感度、特异度、误诊率)。以体格、实验室检查与其他影像学检查结果为标准,分析彩色多普勒超声对隐睾合并CAKUT诊断的准确性。对确诊隐睾患儿行腹腔镜睾丸下固定术,于术后5 d、术后3个月、术后6个月实施彩色多普勒超声检查。比较术前超声诊断隐睾类型、体积与术中所见一致性,探究超声在评估手术成功率与术后3个月、术后6个月睾丸恢复情况(睾丸体积、形态、血运、精索)中的作用。结果101例患儿中83例确诊隐睾,超声诊断隐睾的准确度97.03%、敏感度98.80%、特异度88.89%、误诊率11.11%。83例隐睾患儿中9例确诊隐睾合并CAKUT,超声诊断隐睾合并CAKUT的准确度95.18%、敏感度90.00%、特异度95.89%、误诊率4.11%。超声诊断睾丸位置、体积与术中所见比较差异无统计学意义(P>0.05)。83例患儿进行手术后,其中80例患儿的睾丸位于阴囊内,无回缩,成功率为96.39%;3例患儿的睾丸回缩至阴囊上方,需进行再次手术,失败率为3.61%。与术后6个月恢复情况比较,术后3个月隐睾患儿血运良好情况、精索情况比较无统计学差异(P>0.05),睾丸体积及睾丸形态正常率明显更低,差异有统计学意(P<0.05)。结论超声诊断隐睾的方式简单,准确性高,且其对隐睾合并CAKUT的早期诊断有一定价值,超声能够详细观察患儿的睾丸位置及发育情况,可作为隐睾术后评估的有效工具。展开更多
Kidney disease is manifested in a wide variety of phenotypes,many of which have an important hereditary component.To delineate the genotypic and phenotypic spectrum of pediatric nephropathy,a multicenter registration ...Kidney disease is manifested in a wide variety of phenotypes,many of which have an important hereditary component.To delineate the genotypic and phenotypic spectrum of pediatric nephropathy,a multicenter registration system is being imple-mented based on the Chinese Children Genetic Kidney Disease Database(CCGKDD).In this study,all the patients with kidney and urological diseases were recruited from 2014 to 2020.Genetic analysis was conducted using exome sequencing for families with multiple affected individuals with nephropathy or clinical suspicion of a genetic kidney disease owing to early-onset or extrarenal features.The genetic diagnosis was confirmed in 883 of 2256(39.1%)patients from 23 provinces in China.Phenotypic profiles showed that the primary diagnosis included steroid-resistant nephrotic syndrome(SRNS,23.5%),glomerulonephritis(GN,32.2%),congenital anomalies of the kidney and urinary tract(CAKUT,21.2%),cystic renal disease(3.9%),renal calcinosis/stone(3.6%),tubulopathy(9.7%),and chronic kidney disease of unknown etiology(CKDu,5.8%).The pathogenic variants of 105 monogenetic disorders were identified.Ten distinct genomic disorders were identified as pathogenic copy number variants(CNVs)in 11 patients.The diagnostic yield differed by subgroups,and was highest in those with cystic renal disease(66.3%),followed by tubulopathy(58.4%),GN(57.7%),CKDu(43.5%),SRNS(29.2%),renal calcinosis/stone(29.3%)and CAKUT(8.6%).Reverse phenotyping permitted correct identification in 40 cases with clinical reassessment and unexpected genetic conditions.We present the results of the largest cohort of children with kidney disease in China where diagnostic exome sequencing was performed.Our data demonstrate the utility of family-based exome sequencing,and indicate that the combined analysis of genotype and phenotype based on the national patient registry is pivotal to the genetic diagnosis of kidney disease.展开更多
文摘Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are a well-documented risk factor for the development of urinary tract infection (UTI) in children. Prevention of UTI in this group of patients is advocated due to their increased risk of renal scarring, hypertension and end stage kidney failure. Methods: A 10-year retrospective review of CAKUT patients at the Johannesburg Academic Hospital, who were placed on prophylactic antibiotics over a certain period was done. The rate of UTI, the types of causative organisms isolated and the efficacy of prophylactic antibiotics in preventing UTI were documented. Results: Thirty-six (36) out of 134 patients had been started on prophylactic antibiotics after the diagnosis of CAKUT was made. There was a statistically significant association between the use of prophylactic antibiotics and the rate of UTI (p Conclusion: Antibiotic prophylaxis was very effective in decreasing the rate of UTI in our cohort of patients with CAKUT.
文摘目的探究超声检查对隐睾、隐睾合并先天性肾脏和尿路畸形(Congenital Anomalies of the Kidney and the Urinary Tract,CAKUT)患儿病情诊断的作用以及评估隐睾手术效果的价值。方法选取2019年7月至2021年5月于我院就诊的101例疑似隐睾患儿为研究对象,对其行体格、实验室检查与彩色多普勒超声、腹腔镜探查。以腹腔镜探查结果为金标准,分析彩色多普勒超声对小儿隐睾诊断的准确性(准确度、敏感度、特异度、误诊率)。以体格、实验室检查与其他影像学检查结果为标准,分析彩色多普勒超声对隐睾合并CAKUT诊断的准确性。对确诊隐睾患儿行腹腔镜睾丸下固定术,于术后5 d、术后3个月、术后6个月实施彩色多普勒超声检查。比较术前超声诊断隐睾类型、体积与术中所见一致性,探究超声在评估手术成功率与术后3个月、术后6个月睾丸恢复情况(睾丸体积、形态、血运、精索)中的作用。结果101例患儿中83例确诊隐睾,超声诊断隐睾的准确度97.03%、敏感度98.80%、特异度88.89%、误诊率11.11%。83例隐睾患儿中9例确诊隐睾合并CAKUT,超声诊断隐睾合并CAKUT的准确度95.18%、敏感度90.00%、特异度95.89%、误诊率4.11%。超声诊断睾丸位置、体积与术中所见比较差异无统计学意义(P>0.05)。83例患儿进行手术后,其中80例患儿的睾丸位于阴囊内,无回缩,成功率为96.39%;3例患儿的睾丸回缩至阴囊上方,需进行再次手术,失败率为3.61%。与术后6个月恢复情况比较,术后3个月隐睾患儿血运良好情况、精索情况比较无统计学差异(P>0.05),睾丸体积及睾丸形态正常率明显更低,差异有统计学意(P<0.05)。结论超声诊断隐睾的方式简单,准确性高,且其对隐睾合并CAKUT的早期诊断有一定价值,超声能够详细观察患儿的睾丸位置及发育情况,可作为隐睾术后评估的有效工具。
基金J.R.is supported by National Natural Science Foundation of China(NSFC-8182207)Shanghai Academic/Technology Research Leader(19XD1420600)Chinese Academy of Medical Sciences(2019-RC-HL_020).
文摘Kidney disease is manifested in a wide variety of phenotypes,many of which have an important hereditary component.To delineate the genotypic and phenotypic spectrum of pediatric nephropathy,a multicenter registration system is being imple-mented based on the Chinese Children Genetic Kidney Disease Database(CCGKDD).In this study,all the patients with kidney and urological diseases were recruited from 2014 to 2020.Genetic analysis was conducted using exome sequencing for families with multiple affected individuals with nephropathy or clinical suspicion of a genetic kidney disease owing to early-onset or extrarenal features.The genetic diagnosis was confirmed in 883 of 2256(39.1%)patients from 23 provinces in China.Phenotypic profiles showed that the primary diagnosis included steroid-resistant nephrotic syndrome(SRNS,23.5%),glomerulonephritis(GN,32.2%),congenital anomalies of the kidney and urinary tract(CAKUT,21.2%),cystic renal disease(3.9%),renal calcinosis/stone(3.6%),tubulopathy(9.7%),and chronic kidney disease of unknown etiology(CKDu,5.8%).The pathogenic variants of 105 monogenetic disorders were identified.Ten distinct genomic disorders were identified as pathogenic copy number variants(CNVs)in 11 patients.The diagnostic yield differed by subgroups,and was highest in those with cystic renal disease(66.3%),followed by tubulopathy(58.4%),GN(57.7%),CKDu(43.5%),SRNS(29.2%),renal calcinosis/stone(29.3%)and CAKUT(8.6%).Reverse phenotyping permitted correct identification in 40 cases with clinical reassessment and unexpected genetic conditions.We present the results of the largest cohort of children with kidney disease in China where diagnostic exome sequencing was performed.Our data demonstrate the utility of family-based exome sequencing,and indicate that the combined analysis of genotype and phenotype based on the national patient registry is pivotal to the genetic diagnosis of kidney disease.
