Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract

Uy, Natalie; Reidy, Kimberly

doi:10.1055/s-0035-1558423

Cited by 38 publications

(31 citation statements)

References 105 publications

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“…The clinical phenotypes of urinary tract dilation vary, ranging from inconsequential (most common) to severe obstructive disease (rare). Severe obstructive disease accounts for one third of all cases of pediatric ESRD …”

Section: Noncystic Fetal Renal Pathologymentioning

confidence: 99%

“…Single gene disorders may be a primary source of CAKUT as evidenced by the following: (a) CAKUT appears with familial segregation, (b) monogenic mouse models exhibit CAKUT phenotypes, and (c) human multi‐organ monogenic syndromes may include CAKUT phenotypes . In fact, 10% to 50% of children with CAKUT will report a family history of kidney anomalies or urinary tract disease …”

Section: Introductionmentioning

confidence: 99%

“…2 In fact, 10% to 50% of children with CAKUT will report a family history of kidney anomalies or urinary tract disease. 3 Although there are hundreds of Mendelian disorders associated with prenatal CAKUT phenotypes, we will focus specifically on polycystic kidney disease (autosomal dominant and recessive), select ciliopathies such as Bardet-Biedel and Meckel-Gruber, and genetic associations with apparently isolated yet more common prenatal ultrasound findings such as renal agenesis, megacystis microcolon, urinary tract dilation, and multicystic dyplastic kidney (MCDK). This review provides a systemic approach to the prenatal diagnosis of CAKUT and highlights specific prenatal genetic considerations when CAKUT is identified.…”

Section: Introductionmentioning

confidence: 99%

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Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT)

2019

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Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20% of all congenital malformations occurring in one in 500 live births. Worldwide, CAKUT are responsible for 40% to 50% of pediatric and 7% of adult end‐stage renal disease. Pathogenic variants in genes causing CAKUT include monogenic diseases such as polycystic kidney disease and ciliopathies, as well as syndromes that include isolated kidney disease in conjunction with other abnormalities. Prenatal diagnosis most often occurs using ultrasonography; however, further genetic diagnosis may be made using a variety of testing strategies. Family history and pathologic examination can also provide information to improve the ability to make a prenatal diagnosis of CAKUT. Here, we provide a comprehensive overview of genetic considerations in the prenatal diagnosis of CAKUT disorders. Specifically, we discuss monogenic causes of CAKUT, associated ultrasound characteristics, and considerations for genetic diagnosis, antenatal care, and postnatal care.

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Section: Noncystic Fetal Renal Pathologymentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT)

2019

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“…Thus, it is therefore likely that many cases of CAKUT are polygenic, with multiple gene variants contributing. Genetic causes of CAKUT have been reviewed recently [68–72], therefore we will focus here on a subset of mutations identified in humans.…”

Section: Genetic Defects Leading To Cakutmentioning

confidence: 99%

Renal development in the fetus and premature infant

Rosenblum

Pal

Reidy

2017

Seminars in Fetal and Neonatal Medicine

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SUMMARY Congenital abnormalities of the kidney and urinary tract (CAKUT) are one of the leading congenital defects to be identified on prenatal ultrasound. CAKUT represents a broad spectrum of abnormalities, from transient hydronephrosis to severe bilateral renal agenesis. CAKUT is a major contributor to chronic and end stage kidney disease (CKD/ESKD) in children. Both genetic abnormalities and the fetal environment contribute to CAKUT. Monogenic gene mutations identified in human CAKUT have advanced our understanding of molecular mechanisms of renal development. Low nephron number and solitary kidneys are associated with increased risk of adult onset CKD and ESKD. Premature and low birth weight infants represent a high risk population for low nephron number. Additional research is needed to identify modifiable factors to enhance nephron development in premature infants and biomarkers and appropriate follow-up of premature and low birth weight infants into adulthood.

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“…They include a wide spectrum of renal abnormalities, from mild hydronephrosis to more severe cases, such as bilateral renal dysplasia. The etiology of the majority of cases of CAKUT remains unknown, but there is increasing evidence that genomic imbalance contributes to the pathogenesis of CAKUT [4].…”

Section: Introductionmentioning

confidence: 99%

Comparison of amniotic fluid volumetry between fetal sonography and MRI - Correlation to MR diffusion parameters of the fetal kidney

Moschos¹,

Güllmar²,

Fiedler³

et al. 2017

Birth Defect

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Objective: Determine whether amniotic fluid volume (AFV) determination by magnetic resonance imaging (MRI) can be compared with ultrasound based amniotic fluid index (AFI) and whether diffusion weighted imaging (DWI) of the fetal kidneys can be used as surrogate marker for the assessment of AFV and fetal kidney function. Methods:In the period from August 2013 to September 2014 prospective evaluation of AFV based on TRUFI MRI in 2 spatial planes (AFVMRI) and ultrasound based AFI. Inclusion criteria for the evaluation were: 1) Full image of the fetus (including AF and placenta) in an MR-study in at least two planes (sagittal and coronal), 2) Layer thickness 8 mm, 3) DWI-images of the fetal kidney in two planes (sagittal and transverse to the fetus). ROI analysis of the ADC values in normal kidneys and in pathological fetal kidneys (CAKUT) as well as the correlation of AFVMRI vs. AFI, renal volume and ADC were performed. Results:The correlation between AFI (13.60 ± 2.46 cm) and AFVMRI (579 ± 353 mL) was 0.69 (p=0.03). There was no significant correlation between AFVMRI and kidney volume, between AFVMRI and ADC700 and ADC800. The B700-ADC values of fetuses with CAKUT (n=14) were considerably higher than the values in fetuses with healthy kidneys. Conclusion:Compared to AFI, AFVMRI showed higher accuracy, but was associated with higher time consumption. Thus it cannot be routinely recommended for the purpose of AFV-determination alone. MRI can be used to establish a relationship between kidney diffusion parameters, renal volume, GA and AFV in fetuses with CAKUT.

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Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract

Cited by 38 publications

References 105 publications

Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT)

Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT)

Renal development in the fetus and premature infant

Comparison of amniotic fluid volumetry between fetal sonography and MRI - Correlation to MR diffusion parameters of the fetal kidney

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