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Article ; Online: Clinical Integration of Genome Diagnostics for Congenital Anomalies of the Kidney and Urinary Tract.

Westland, Rik / Renkema, Kirsten Y / Knoers, Nine V A M

Clinical journal of the American Society of Nephrology : CJASN

2020 Volume 16, Issue 1, Page(s) 128–137

Abstract: Revolutions in genetics, epigenetics, and bioinformatics are currently changing the outline of diagnostics and clinical medicine. From a nephrologist's perspective, individuals with congenital anomalies of the kidney and urinary tract (CAKUT) are an ... ...

Abstract	Revolutions in genetics, epigenetics, and bioinformatics are currently changing the outline of diagnostics and clinical medicine. From a nephrologist's perspective, individuals with congenital anomalies of the kidney and urinary tract (CAKUT) are an important patient category: not only is CAKUT the predominant cause of kidney failure in children and young adults, but the strong phenotypic and genotypic heterogeneity of kidney and urinary tract malformations has hampered standardization of clinical decision making until now. However, patients with CAKUT may benefit from precision medicine, including an integrated diagnostics trajectory, genetic counseling, and personalized management to improve clinical outcomes of developmental kidney and urinary tract defects. In this review, we discuss the present understanding of the molecular etiology of CAKUT and the currently available genome diagnostic modalities in the clinical care of patients with CAKUT. Finally, we discuss how clinical integration of findings from large-scale genetic, epigenetic, and gene-environment interaction studies may improve the prognosis of all individuals with CAKUT.
MeSH term(s)	DNA Copy Number Variations ; Epigenesis, Genetic ; Gene-Environment Interaction ; Genetic Counseling ; Genetic Testing ; Genomics ; Humans ; Phenotype ; Precision Medicine ; Urogenital Abnormalities/diagnosis ; Urogenital Abnormalities/genetics ; Vesico-Ureteral Reflux/diagnosis ; Vesico-Ureteral Reflux/genetics
Language	English
Publishing date	2020-04-20
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2226665-3
ISSN	1555-905X ; 1555-9041
ISSN (online)	1555-905X
ISSN	1555-9041
DOI	10.2215/CJN.14661119
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Article ; Online: The genomic landscape of CAKUT; you gain some, you lose some.

Knoers, Nine V A M / Renkema, Kirsten Y

Kidney international

2019 Volume 96, Issue 2, Page(s) 267–269

MeSH term(s)	DNA Copy Number Variations ; Genomics ; Humans ; Kidney ; Urinary Tract ; Urogenital Abnormalities ; Vesico-Ureteral Reflux
Language	English
Publishing date	2019-07-19
Publishing country	United States
Document type	Journal Article ; Comment
ZDB-ID	120573-0
ISSN	1523-1755 ; 0085-2538
ISSN (online)	1523-1755
ISSN	0085-2538
DOI	10.1016/j.kint.2019.03.017
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Article ; Online: Impact of next generation sequencing on our understanding of CAKUT.

Nigam, Anukrati / Knoers, Nine V A M / Renkema, Kirsten Y

Seminars in cell & developmental biology

2018 Volume 91, Page(s) 104–110

Abstract: Congenital abnormalities of the kidney and urinary tract (CAKUT) form the leading cause of pediatric end-stage renal disease. Knowledge on the molecular mechanisms that underlie CAKUT leads to the improvement of DNA diagnostics and counseling regarding ... ...

Abstract	Congenital abnormalities of the kidney and urinary tract (CAKUT) form the leading cause of pediatric end-stage renal disease. Knowledge on the molecular mechanisms that underlie CAKUT leads to the improvement of DNA diagnostics and counseling regarding prognosis and recurrence risk estimation for CAKUT patients and their relatives. Implementation of next generation sequencing in research and diagnostic settings has led to the identification of the molecular basis of many developmental diseases. In this review, we summarize the efforts on next generation sequencing in CAKUT research and we discuss how next generation sequencing added to our understanding of CAKUT genetics. Although next generation sequencing has certainly proven to be a game changer in the field of disease gene identification and novel CAKUT-causing gene variants have been identified, most CAKUT cases still remain unsolved. Occurring with genetic and phenotypic heterogeneity along with incomplete penetrance, the identification of CAKUT etiology poses many challenges. We see great potential for combined -omics approaches that include next generation sequencing in the identification of CAKUT-specific biomarkers, which is necessary to optimize the care for CAKUT patients.
MeSH term(s)	Animals ; Gene Expression Regulation, Developmental ; Genetic Association Studies/methods ; Genetic Predisposition to Disease/genetics ; High-Throughput Nucleotide Sequencing/methods ; Humans ; Kidney/embryology ; Kidney/metabolism ; Kidney/pathology ; Mutation ; Urogenital Abnormalities/diagnosis ; Urogenital Abnormalities/embryology ; Urogenital Abnormalities/genetics ; Vesico-Ureteral Reflux/diagnosis ; Vesico-Ureteral Reflux/embryology ; Vesico-Ureteral Reflux/genetics
Language	English
Publishing date	2018-09-05
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	1312473-0
ISSN	1096-3634 ; 1084-9521
ISSN (online)	1096-3634
ISSN	1084-9521
DOI	10.1016/j.semcdb.2018.08.013
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Article ; Online: Genetics of kidney disease in 2016: Ingenious tactics to unravel complex kidney disease genetics.

Renkema, Kirsten Y / Knoers, Nine V A M

Nature reviews. Nephrology

2017 Volume 13, Issue 2, Page(s) 67–68

MeSH term(s)	Disease Progression ; Genetic Markers ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Kidney Diseases/diagnosis ; Kidney Diseases/genetics
Chemical Substances	Genetic Markers
Language	English
Publishing date	2017-01-18
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2490366-8
ISSN	1759-507X ; 1759-5061
ISSN (online)	1759-507X
ISSN	1759-5061
DOI	10.1038/nrneph.2016.192
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Article ; Online: Association between maternal diabetes and renal malformations in the offspring: more than environmental factors.

Schreuder, Michiel F / Renkema, Kirsten Y

Birth defects research. Part A, Clinical and molecular teratology

2011 Volume 91, Issue 2, Page(s) 125

MeSH term(s)	Case-Control Studies ; Congenital Abnormalities/genetics ; Female ; Hepatocyte Nuclear Factor 1-beta/genetics ; Humans ; Kidney/abnormalities ; Kidney Diseases/congenital ; Pregnancy ; Pregnancy in Diabetics/genetics
Chemical Substances	Hepatocyte Nuclear Factor 1-beta (138674-15-4)
Language	English
Publishing date	2011-02
Publishing country	United States
Document type	Comment ; Letter
ZDB-ID	2104792-3
ISSN	1542-0760 ; 1542-0752 ; 1542-9733 ; 1542-975X
ISSN (online)	1542-0760
ISSN	1542-0752 ; 1542-9733 ; 1542-975X
DOI	10.1002/bdra.20765
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Article: A Genome-Wide Association Study into the Aetiology of Congenital Solitary Functioning Kidney.

Groen In 't Woud, Sander / Maj, Carlo / Renkema, Kirsten Y / Westland, Rik / Galesloot, Tessel / van Rooij, Iris A L M / Vermeulen, Sita H / Feitz, Wout F J / Roeleveld, Nel / Schreuder, Michiel F / van der Zanden, Loes F M

Biomedicines

2022 Volume 10, Issue 12

Abstract: Congenital solitary functioning kidney (CSFK) is a birth defect that occurs in 1:1500 children and predisposes them to kidney injury. Its aetiology is likely multifactorial. In addition to known monogenic causes and environmental risk factors, common ... ...

Abstract	Congenital solitary functioning kidney (CSFK) is a birth defect that occurs in 1:1500 children and predisposes them to kidney injury. Its aetiology is likely multifactorial. In addition to known monogenic causes and environmental risk factors, common genetic variation may contribute to susceptibility to CSFK. We performed a genome-wide association study among 452 patients with CSFK and two control groups of 669 healthy children and 5363 unaffected adults. Variants in two loci reached the genome-wide significance threshold of 5 × 10
Language	English
Publishing date	2022-11-23
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2720867-9
ISSN	2227-9059
ISSN	2227-9059
DOI	10.3390/biomedicines10123023
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Article ; Online: Diabetes-Induced Congenital Anomalies of the Kidney and Urinary Tract (CAKUT): Nurture and Nature at Work?

Renkema, Kirsten Y / Verhaar, Marianne C / Knoers, Nine V A M

American journal of kidney diseases : the official journal of the National Kidney Foundation

2015 Volume 65, Issue 5, Page(s) 644–646

MeSH term(s)	Diabetes Mellitus, Type 1/epidemiology ; Diabetes Mellitus, Type 2/epidemiology ; Diabetes, Gestational/epidemiology ; Female ; Humans ; Male ; Pregnancy ; Pregnancy in Diabetics/epidemiology ; Vesico-Ureteral Reflux/epidemiology
Language	English
Publishing date	2015-05
Publishing country	United States
Document type	Comment ; Editorial ; Research Support, Non-U.S. Gov't
ZDB-ID	604539-x
ISSN	1523-6838 ; 0272-6386
ISSN (online)	1523-6838
ISSN	0272-6386
DOI	10.1053/j.ajkd.2015.02.320
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Article ; Online: Uncovering risk factors for kidney injury in children with a solitary functioning kidney.

Groen In 't Woud, Sander / Roeleveld, Nel / Westland, Rik / Renkema, Kirsten Y / Steffens, Martijn G / Gracchi, Valentina / Lilien, Marc R / van Wijk, Joanna A E / Feitz, Wout F J / Schreuder, Michiel F / van der Zanden, Loes F M

Kidney international

2022 Volume 103, Issue 1, Page(s) 156–165

Abstract: Children with a solitary functioning kidney (SFK) have an increased risk of kidney injury. The exact risk of and risk factors for kidney injury remain unknown, which impedes personalized care. Here, we recruited a nationwide multicenter cohort of 944 ... ...

Abstract	Children with a solitary functioning kidney (SFK) have an increased risk of kidney injury. The exact risk of and risk factors for kidney injury remain unknown, which impedes personalized care. Here, we recruited a nationwide multicenter cohort of 944 patients with SFK to get more insight into this by consenting patients born in 1993-2020 and diagnosed with congenital or acquired SFK before adulthood. The median follow-up was 12.8 years and four indications of kidney injury were studied: urine protein-creatinine ratios, blood pressure, estimated glomerular filtration rate and use of anti-hypertensive/proteinuric medication. For each indicator except medication use, separate cut-off values for any injury and severe injury were used. Survival analyses indicated that at 18 years of age, any or severe kidney injury were present in 75% and 39% of patients with congenital SFK, respectively. Risk factors for kidney injury included kidney agenesis as cause of the SFK, anomalies in the SFK, and high body mass index at last follow-up. Kidney agenesis and being overweight were specifically associated with proteinuria and high blood pressure, whereas anomalies in the SFK were associated with reduced estimated glomerular filtration rates. The high prevalence of kidney injury in patients with SFK emphasizes the need for long-term follow-up, in which lifestyle is an important topic to address. More research into the etiological role of risk factors will help to translate our findings into individualized care strategies. Thus, our study shows that a significant proportion of children with SFK will develop kidney injury over time.
MeSH term(s)	Humans ; Child ; Adult ; Solitary Kidney/complications ; Solitary Kidney/diagnosis ; Kidney ; Glomerular Filtration Rate/physiology ; Risk Factors ; Antihypertensive Agents
Chemical Substances	Antihypertensive Agents
Language	English
Publishing date	2022-10-28
Publishing country	United States
Document type	Multicenter Study ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	120573-0
ISSN	1523-1755 ; 0085-2538
ISSN (online)	1523-1755
ISSN	0085-2538
DOI	10.1016/j.kint.2022.09.028
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Article ; Online: Genetic, environmental, and epigenetic factors involved in CAKUT.

Nicolaou, Nayia / Renkema, Kirsten Y / Bongers, Ernie M H F / Giles, Rachel H / Knoers, Nine V A M

Nature reviews. Nephrology

2015 Volume 11, Issue 12, Page(s) 720–731

Abstract: Congenital anomalies of the kidney and urinary tract (CAKUT) refer to a spectrum of structural renal malformations and are the leading cause of end-stage renal disease in children. The genetic diagnosis of CAKUT has proven to be challenging due to ... ...

Abstract	Congenital anomalies of the kidney and urinary tract (CAKUT) refer to a spectrum of structural renal malformations and are the leading cause of end-stage renal disease in children. The genetic diagnosis of CAKUT has proven to be challenging due to genetic and phenotypic heterogeneity and incomplete genetic penetrance. Monogenic causes of CAKUT have been identified using different approaches, including single gene screening, and gene panel and whole exome sequencing. The majority of the identified mutations, however, lack substantial evidence to support a pathogenic role in CAKUT. Copy number variants or single nucleotide variants that are associated with CAKUT have also been identified. Numerous studies support the influence of epigenetic and environmental factors on kidney development and the natural history of CAKUT, suggesting that the pathogenesis of this syndrome is multifactorial. In this Review we describe the current knowledge regarding the genetic susceptibility underlying CAKUT and the approaches used to investigate the genetic basis of CAKUT. We outline the associated environmental risk factors and epigenetic influences on CAKUT and discuss the challenges and strategies used to fully address the involvement and interplay of these factors in the pathogenesis of the disease.
MeSH term(s)	Congenital Abnormalities/etiology ; Congenital Abnormalities/genetics ; Environmental Exposure/adverse effects ; Epigenesis, Genetic ; Humans ; Kidney/abnormalities ; Urinary Tract/abnormalities
Language	English
Publishing date	2015-12
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2490366-8
ISSN	1759-507X ; 1759-5061
ISSN (online)	1759-507X
ISSN	1759-5061
DOI	10.1038/nrneph.2015.140
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Article ; Online: Maternal risk associated with the VACTERL association: A case-control study.

van de Putte, Romy / de Walle, Hermien E K / van Hooijdonk, Kirsten J M / de Blaauw, Ivo / Marcelis, Carlo L M / van Heijst, Arno / Giltay, Jacques C / Renkema, Kirsten Y / Broens, Paul M A / Brosens, Erwin / Sloots, Cornelius E J / Bergman, Jorieke E H / Roeleveld, Nel / van Rooij, Iris A L M

Birth defects research

2020 Volume 112, Issue 18, Page(s) 1495–1504

Abstract: Background: The VACTERL association (VACTERL) includes at least three of these congenital anomalies: vertebral, anal, cardiac, trachea-esophageal, renal, and limb anomalies. Assisted reproductive techniques (ART), pregestational diabetes mellitus, and ... ...

Abstract	Background: The VACTERL association (VACTERL) includes at least three of these congenital anomalies: vertebral, anal, cardiac, trachea-esophageal, renal, and limb anomalies. Assisted reproductive techniques (ART), pregestational diabetes mellitus, and chronic lower obstructive pulmonary disorders (CLOPD) have been associated with VACTERL. We aimed to replicate these findings and were interested in additional maternal risk factors. Methods: A case-control study using self-administered questionnaires was performed including 142 VACTERL cases and 2,135 population-based healthy controls. Multivariable logistic regression analyses were performed to estimate confounder adjusted odds ratios (aOR) and 95% confidence intervals (95%CI). Results: Parents who used invasive ART had an increased risk of VACTERL in offspring (aOR 4.4 [95%CI 2.1-8.8]), whereas the increased risk for mothers with CLOPD could not be replicated. None of the case mothers had pregestational diabetes mellitus. Primiparity (1.5 [1.1-2.1]) and maternal pregestational overweight and obesity (1.8 [1.2-2.8] and 1.8 [1.0-3.4]) were associated with VACTERL. Consistent folic acid supplement use during the advised periconceptional period may reduce the risk of VACTERL (0.5 [0.3-1.0]). Maternal smoking resulted in an almost twofold increased risk of VACTERL. Conclusion: We identified invasive ART, primiparity, pregestational overweight and obesity, lack of folic acid supplement use, and smoking as risk factors for VACTERL.
MeSH term(s)	Anal Canal/abnormalities ; Case-Control Studies ; Esophagus/abnormalities ; Female ; Heart Defects, Congenital ; Humans ; Kidney/abnormalities ; Limb Deformities, Congenital/epidemiology ; Limb Deformities, Congenital/etiology ; Spine/abnormalities ; Trachea/abnormalities
Language	English
Publishing date	2020-07-22
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2104792-3
ISSN	2472-1727
ISSN (online)	2472-1727
DOI	10.1002/bdr2.1773
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