The Prevalence and Clinical Significance of Congenital Anomalies of the Kidney and Urinary Tract in Preterm Infants
Sign Up to like & getrecommendations! Published in 2022 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2022.31626
Abstract: Key Points Question What is the prevalence and importance of congenital anomalies of the kidney and urinary tract (CAKUT) in preterm infants? Findings In this cohort study of 409 704 infants born at 23 to 33… read more here.
Keywords: urinary tract; preterm infants; kidney urinary; congenital anomalies ... See more keywords
Detection of copy number disorders associated with congenital anomalies of the kidney and urinary tract in fetuses via single nucleotide polymorphism arrays
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.23025
Abstract: While congenital anomalies of the kidney and urinary tract (CAKUT) constitute one‐third of all congenital malformations, the mechanisms underlying their development are poorly understood. Some studies have reported an association between CAKUT and copy number… read more here.
Keywords: congenital anomalies; urinary tract; copy number; kidney urinary ... See more keywords
Diagnostic accuracy of an interdisciplinary tertiary center evaluation in children referred for suspected congenital anomalies of the kidney and urinary tract on fetal ultrasound - a retrospective outcome analysis
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric Nephrology"
DOI: 10.1007/s00467-021-05139-z
Abstract: Fetal ultrasound organ screening has become a standard of care in most high-income countries. This has resulted in increased detection of congenital abnormalities, which may lead to major uncertainty and anxiety in expectant parents, even… read more here.
Keywords: urinary tract; nephrology; fetal ultrasound; grade ... See more keywords
Congenital Anomalies of the Kidney and Urinary Tract: a Clinical Review
Sign Up to like & getrecommendations! Published in 2019 at "Current Treatment Options in Pediatrics"
DOI: 10.1007/s40746-019-00166-3
Abstract: Purpose of reviewThis review highlights the most common congenital anomalies of the kidney and urinary tract (CAKUT) that are encountered in pediatric practices. CAKUT are the most common cause of prenatally diagnosed developmental malformations and… read more here.
Keywords: congenital anomalies; urinary tract; kidney urinary; tract ... See more keywords
Biallelic pathogenic variants in roundabout guidance receptor 1 associate with syndromic congenital anomalies of the kidney and urinary tract.
Sign Up to like & getrecommendations! Published in 2022 at "Kidney international"
DOI: 10.1016/j.kint.2022.01.028
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) represent the most common cause of chronic kidney failure in children. Despite growing knowledge of the genetic causes of CAKUT, the majority of cases remain etiologically… read more here.
Keywords: kidney urinary; anomalies kidney; roundabout guidance; urinary tract ... See more keywords
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
Sign Up to like & getrecommendations! Published in 2018 at "Nature genetics"
DOI: 10.1038/s41588-018-0281-y
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in 2,824 cases and 21,498 controls. Affected individuals… read more here.
Keywords: congenital anomalies; urinary tract; copy number; kidney urinary ... See more keywords
Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract
Sign Up to like & getrecommendations! Published in 2017 at "Nephrology Dialysis Transplantation"
DOI: 10.1093/ndt/gfx031
Abstract: Background In the absence of cytogenetic abnormality, fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) with/without other structural anomalies show a higher likelihood of monogenic causes; however, defining the underlying pathology can… read more here.
Keywords: congenital anomalies; urinary tract; cakut; kidney urinary ... See more keywords
Interleukin‐10‐1082A/G polymorphism is associated with renal parenchymal damage in congenital anomalies of the kidney and urinary tract
Sign Up to like & getrecommendations! Published in 2019 at "Nephrology"
DOI: 10.1111/nep.13229
Abstract: The aim of the study was to investigate whether the functional IL10‐1082A/G polymorphism exert a role in congenital anomalies of the kidney and urinary tract (CAKUT) in children. Also, the serum IL‐10 and its association… read more here.
Keywords: congenital anomalies; urinary tract; 1082a polymorphism; renal parenchymal ... See more keywords
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the American Society of Nephrology : JASN"
DOI: 10.1681/asn.2017010043
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) occur in three to six of 1000 live births, represent about 20% of the prenatally detected anomalies, and constitute the main cause of CKD in children.… read more here.
Keywords: congenital anomalies; exome sequencing; urinary tract; kidney urinary ... See more keywords
Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13101687
Abstract: The use of next-generation sequencing (NGS) has helped in identifying many genes that cause congenital anomalies of the kidney and urinary tract (CAKUT). Bilateral renal agenesis (BRA) is the most severe presentation of CAKUT, and… read more here.
Keywords: urinary tract; missense; kidney urinary; missense variants ... See more keywords
Genetics of Congenital Anomalies of the Kidney and Urinary Tract: The Current State of Play
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms18040796
Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) are the most frequent form of malformation at birth and represent the cause of 40–50% of pediatric and 7% of adult end-stage renal disease worldwide. The… read more here.
Keywords: congenital anomalies; urinary tract; genetics; kidney urinary ... See more keywords