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更新于：2025-05-07

Cakut

先天性肾脏及泌尿系统异常

更新于：2025-05-07

基本信息

别名

CAKUT、Cakut、Congenital Anomalies Of Kidney And Urinary Tract

+ [4]

简介-

关联

项与先天性肾脏及泌尿系统异常相关的药物

Rilparencel

靶点-

作用机制

细胞替代物

在研机构

原研机构

在研适应症

非在研适应症

最高研发阶段临床3期

首次获批国家/地区-

首次获批日期1800-01-20

项与先天性肾脏及泌尿系统异常相关的临床试验

NCT06912490

/ Not yet recruitingN/AIIT

Proteomic Analysis of Amniotic Fluid to Predict Postnatal Renal Function in Fetuses With Renal and Urinary Tract Malformations

The aim of this project is to validate a previously established amniotic fluid 98 peptide signature predictive of post-natal outcome in fetuses with congenital anomalies of the kidney and the urinary tract (CAKUT) in a "real" clinical context. It includes the feasibility of collecting, transporting and analyzing the amniotic fluid peptidome from clinical centers all over France and of providing the result in a clinically accepted time-frame. Therefore, this multicenter study will not only allow to determine the added value of such new prenatal test but also to ensure the feasibility of its introduction in the management of CAKUT pregnancies.

开始日期2025-04-15

申办/合作机构

Toulouse University Hospital

NCT06921733

/ RecruitingN/A

Non-invasive Evaluation of Kidneys in Patient With Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) Using Ultrasound Localization Microscopy

This clinical study aims to non-invasively visualize perfusion and microvascularization, as well as individual glomeruli, using Ultrasound Localization Microscopy (ULM) and CEUS in patients with congenital anomalies of the kidney and urinary tract (CAKUT).

开始日期2025-04-05

申办/合作机构

Friedrich Alexander Universität Erlangen Nürnberg

NCT06440499

/ Not yet recruitingN/AIIT

Prenatal Ultrasonographic Screening of Congenital Anomalies of Kidney and Urinary Tract During the Third Trimester of Pregnancy

To evaluate the role of ultrasound in prenatal diagnosis of congenital anomalies of kidney and urinary system in third trimester of pregnancy.
Primay outcomes:
To determine incidence of congenital anomalies in kidney and urinary system in Third Timerter by ultrasound.

开始日期2024-07-01

申办/合作机构

Assiut University

100 项与先天性肾脏及泌尿系统异常相关的临床结果

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100 项与先天性肾脏及泌尿系统异常相关的转化医学

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0 项与先天性肾脏及泌尿系统异常相关的专利（医药）

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1,101

项与先天性肾脏及泌尿系统异常相关的文献（医药）

2025-06-01·Brain and Development

A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature

Article

作者: Romaniello, Romina ; Morelli, Federica ; Rognone, Elisa ; Nicolosi, Silvia ; Politano, Davide ; Gana, Simone ; Marazzi, Francesca ; Scognamillo, Ilaria ; Signorini, Sabrina ; Borgatti, Renato ; Valente, Enza Maria

BACKGROUNDZMYM2 heterozygous pathogenic variants cause an ultra-rare disease characterized by a broad clinical phenotype. This condition has been named neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities (NECRC, MIM#619522). Associated anomalies include congenital abnormalities of the kidney and urinary tract (CAKUT), non-specific facial, cardiac, and skeletal abnormalities, along with a variety of neurodevelopmental disorders. Other abnormalities reported in some patients include infantile hypotonia, poor growth, microcephaly, hypospadias, and motor stereotypies. Recently, one patient with cerebral palsy embedded in a complex phenotype was reported to carry a pathogenic ZMYM2 variant.CASE PRESENTATIONThis study presents the case of a 13-year-old girl carrying a de novo ZMYM2 heterozygous pathogenic variant. The patient displayed a Rett-like phenotype, associated with non-specific features such as precocious puberty, short stature, facial dysmorphisms, and spastic diplegia.CONCLUSIONSThis case expands the known clinical phenotype associated with ZMYM2 pathogenic variants, suggesting for the first time a possible link to Rett-like syndromes.

2025-06-01·Acta Histochemica

The significance of Itga8 and Vangl2 in kidney development: Insights from yotari mice

Article

作者: Katsuyama, Yu ; Filipović, Natalija ; Gelemanović, Andrea ; Vukojević, Katarina ; Kelam, Nela ; Bajt, Patricija ; Racetin, Anita ; Pavlović, Nikola

The permanent kidney develops from the metanephros through the interaction of the ureteric bud (UB) and metanephric mesenchyme (MM). Congenital anomalies of the kidney and urinary tract (CAKUT) are common prenatal diagnoses, and genetic factors play a critical role in their development. This study explores the involvement of Integrin alpha-8 (Itga8) and Van Gogh-like 2 (Vangl2) proteins in kidney development, using the yotari (yot) mouse model, which harbors a mutation in the Dab1 gene, disrupting Reelin signaling. Immunofluorescence was employed to analyze the spatiotemporal expression patterns of these proteins in embryonic and postnatal kidney samples. Our results show that Itga8 and Vangl2 expression is significantly higher in the embryonic kidneys of yot mice than those of wt mice. However, the two groups observed no significant differences in the temporal expression of these proteins in postnatal kidneys. Spatially, Itga8 was most strongly expressed in the metanephric mesenchyme and renal vesicles/immature glomeruli. At the same time, Vangl2 showed the highest expression in the metanephric mesenchyme, renal vesicles/immature glomeruli, and collecting ducts in yot mice. Our findings suggest that the Dab1 mutation disrupts the expression of Itga8 and Vangl2, contributing to kidney developmental defects associated with CAKUT phenotypesThis increased expression suggests a disruption in the normal regulation of these proteins, likely due to the Dab1 mutation, which impairs Reelin signaling. Still, the exact mechanism through which the Reelin/Dab1 pathway influences the expression of examined markers remains to be elucidated. These results offer valuable insights into the factors associated with kidney malformations and suggest potential therapeutic targets for CAKUT abnormalities.

2025-06-01·Early Human Development

Factors affecting the incidence of congenital anomaly of the kidney and urinary tract: A systematic review and meta-analysis

Review

作者: Wisnu, Gusti Ngurah P Pradnya ; Rodjani, Arry ; Wahyudi, Irfan ; Raharja, Putu Angga Risky ; Fahlevi, Reza ; Situmorang, Gerhard Reinaldi

INTRODUCTIONCongenital anomaly of kidney and urinary tract (CAKUT) is one of the most common congenital anomalies, occurring in over 1 % of live births and accounting for 40-50 % of chronic kidney failure cases in children. The prevalence of CAKUT was multifaceted and varies widely. This study aimed to report the latest evidence of incidence, trends, and risk factors associated with the incidence of CAKUT.EVIDENCE ACQUISITIONWe conducted a systematic search of PubMed, ScienceDirect, Scopus, and Proquest databases. The included studies were then assessed using Newcastle-Ottawa (NOS) risk of bias tools. Meta-analysis was performed using Review Manager version 5.4.1 software and presented as pooled incidence and Odds Ratio (OR) with a 95 % confidence interval.EVIDENCE SYNTHESISEight studies in total were included from 2004 to 2022 (12.838 infants with CAKUT of all ages). NOS risk of bias tools indicated all studies had low risk of bias. The overall pooled incidence of CAKUT was 13,6 per 1000 births (95 % CI: 4 to 45,7 per 1000 births) in all infants and 4,9 per 1000 births (95 % CI: 1,1 to 21,3 per 1000 births) in term infants without congenital anomalies, with an increasing trend over the years. Factors, such as sex (boys) (OR = 1,53; 95 % CI 1,26-1,86), prematurity (OR = 1,46; 95 % CI 1,27-1,67), low birth weight (OR = 1,28; 95 % CI 1,10-1,48), maternal diabetes (OR = 1,81; 95 % CI 1,43-2,28), maternal obesity (OR = 1,45; 95 % CI 1,23-1,70), and maternal age (>40 years) were also found to be risk factors of CAKUT incidence. Furthermore, one study reported race (black people [OR = 0,89; 95 % CI 0,87-0,91] and Hispanics [OR = 1,22; 95 % CI 1,18-1,25]) to be a risk factor of CAKUT.CONCLUSIONSThe incidence of CAKUT was high and showed an increasing trend over the years. Several risk factors, such as sex, prematurity, low birth weight, maternal diabetes, maternal obesity, maternal age and race were also found to be associated with CAKUT incidence. These findings should increase awareness regarding CAKUT incidence in at-risk populations.

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