Congenital Anomalies of the Kidney and Urinary Tract: A Genetic Disorder?

Yosypiv, Ihor V.

doi:10.1155/2012/909083

Cited by 109 publications

(105 citation statements)

References 103 publications

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“…Renal malformations are responsible for 34-59% of chronic kidney disease in children and for 31% of paediatric end-stage renal disease in the USA [1][2][3]. Of the many factors associated with congenital abnormalities of the kidney and urinary tract, diabetes mellitus during gestation seems to be one of the key players in both human and experimental settings [4].…”

Section: Introductionmentioning

confidence: 99%

Maternal diabetes modulates kidney formation in murine progeny: the role of hedgehog interacting protein (HHIP)

et al. 2014

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Aims/hypothesis We hypothesised that maternal diabetes impairs kidney formation in offspring via augmented expression of hedgehog interacting protein (HHIP). Our gene-array results were performed in neonatal kidneys from our murine model of maternal diabetes and indicated that Hhip expression was significantly modulated by maternal diabetes. Methods We systematically examined the functional role of HHIP in kidney formation in our murine maternal diabetes model and elucidated the potential mechanisms related to dysnephrogenesis in vitro. Results The kidneys of the offspring of diabetic dams, compared with those of the offspring of control non-diabetic dams, showed retardation of development-small kidneys and less ureteric bud (UB) branching morphogenesis. Augmented HHIP expression was observed in the offspring of diabetic dams, initially localised to differentiated metanephric mesenchyme and UB epithelium and subsequently in maturing glomerular endothelial and tubulointerstitial cells. The heightened HHIP targeting TGF-β1 signalling was associated with dysmorphogenesis. In vitro, HHIP overexpression decreased sonic hedgehog and paired box gene 2 proteins (SHH and PAX2, respectively) and increased transcriptional nuclear factor-kappa B (NFκB, p50/p65), phosphorylation of p53, and TGF-β1 expression. In contrast, overexpression of PAX2 inhibited HHIP and NFκB and activated SHH, N-myc and p27Kip1 expression. Moreover, high glucose stimulated HHIP expression, and then targeted TGF-β1 signalling. Thus, PAX2, via a negative autocrine feedback mechanism, attenuated the stimulatory effect of high glucose on HHIP expression. Conclusions/interpretation Maternal diabetes modulates kidney formation in young progeny mediated, at least in part, via augmented HHIP expression.

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Section: Introductionmentioning

confidence: 99%

Maternal diabetes modulates kidney formation in murine progeny: the role of hedgehog interacting protein (HHIP)

et al. 2014

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“…Bu anomalilerin gelişiminde ailevi paternin de katkısı bildirilmektedir [1,3]. Ülkemizden yapılan bir çalışmada, CAKUT tanısı ile izlenen hastaların %22,9'unda pozitif aile öyküsü ve %24,8'inde akraba evliliği bildirilmiştir [3].…”

Section: Yöntemlerunclassified

“…Konjenital böbrek ve üriner kanal anomalisi (CA-KUT), üriner sistemin böbrek, toplayıcı kanal, mesane veya üretra gibi değişik seviyelerindeki yapısal ve fonksiyonel malformasyonları içerir [1]. CAKUT insidansı 1000 infantda (ölü ve canlı doğan) 0,3 ila1,6 civarındadır.…”

Section: Introductionunclassified

“…Vakaların yaklaşık %50'sinde alt üriner sistem anomalisi mevcuttur [2]. ABD'de CAKUT insidansı 1000 canlı doğum-da 3-6 olup, tüm vakaların %34-59'u kronik böb-rek hastalığı (KBH) ve %31'i son dönem böbrek hastalığı ile sonuçlanır [1]. Bu anomalilerin büyük bir kısmı ultrasonografi ile prenatal dönemde tanı alabilir.…”

Section: Introductionunclassified

“…Postnatal dönemde CAKUT açısından uyarıcı bulgular; batında palpe edilen kitle, beslenme güçlüğü ve idrar çıkışında azalmadır. Bazı formları multiorgan anomalilerin eşlik ettiği sendromlar ile beraber görülse de CAKUT vakalarının çoğu non-sendromiktir [1,2].…”

Section: Introductionunclassified

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Clinical and demographic characteristics of children with congenital anomaly of kidney and urinary tract

Elmacı¹,

Akın²

2014

Diclemedj

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Objective: Congenital anomaly of kidney and urinary tract (CAKUT) includes functional and structural anomalies that can cause end-stage renal disease in children. Clinical and demographic characteristics of patients with CAKUT are evaluated in this study. Methods:The files of patients who were followed up with the diagnosis of CAKUT between November 2008 and June 2011 in Diyarbakır Children's Hospital were reviewed retrospectively. Patient characteristics including age, gender, family history of CAKUT, consangineous marriage, and radiological imaging results were recorded. Results:The study was consisted of 232 patients 129 (55.6%) boys, and 103 (44.4%) girls. The mean age was 4.4 years. A family history of CAKUT was found in 15.2% of patients and 50.9% of parents had consanguineous marriage. Anomalies that were observed in the study included, ureteropelvic junction obstruction in 66 (28.5%), renal agenesis in 49 (21.1%), ectopic kidney in 25 (10.8%), horseshoe kidney in 25 (10.8%), multicystic dysplastic kidney in 20 (8.6%), vesicoureteral reflux in 20 (8.6%), polycystic kidney in 12 (5.2%), posterior urethral valve in 7 (3%), ureterovesical obstruction in 4 (1.7%), renal hypoplasia in 2 (0.9%), and fusion of kidneys in 2 (%0.9) patients. Renal scarring and chronic kidney disease was present in 32 (13.8%) and 7 (3%) patients, respectively. Conclusion:Childhood CAKUT can cause serious morbidities. Cases should be followed up carefully even from the antenatal period. Early intervention of cases requiring treatment will minimize the risk of permanent renal damage.

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Renal complications in 6p duplication syndrome: Microarray‐based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS)

Yoshimura-Furuhata

Nishimura-Tadaki

Amano

et al. 2015

American J of Med Genetics Pt A

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6p duplication syndrome is a rare chromosomal disorder that frequently manifests renal complications, including proteinuria, hypoplastic kidney, and hydronephrosis. We report a girl with the syndrome, manifesting left hydronephrosis, proteinuria/hematuria, and focal segmental glomerular sclerosis (FSGS) resulting in chronic end-stage renal failure, successfully treated with renal transplantation. Microarray comparative genomic hybridization showed the derivative chromosome 6 to have a 6.4-Mb duplication at 6p25.3-p25.1 with 32 protein-coding genes and a 220-Kb deletion at 6p25.3 with two genes of no possible relation to the renal pathology. Review of the literature shows that variation of renal complications in the syndrome is compatible with congenital anomalies of the kidney and urinary tract (CAKUT). FSGS, observed in another patient with 6p duplication syndrome, could be a non-coincidental complication. FOXC1, located within the 6.4-Mb duplicated region at 6p25.3-p25.2, could be a candidate gene for CAKUT, but its single gene duplication effect would not be sufficient. FSGS would be a primary defect associated with duplicated gene(s) albeit no candidate could be proposed, or might occur in association with CAKUT.

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Congenital Anomalies of the Kidney and Urinary Tract: A Genetic Disorder?

Cited by 109 publications

References 103 publications

Maternal diabetes modulates kidney formation in murine progeny: the role of hedgehog interacting protein (HHIP)

Maternal diabetes modulates kidney formation in murine progeny: the role of hedgehog interacting protein (HHIP)

Clinical and demographic characteristics of children with congenital anomaly of kidney and urinary tract

Renal complications in 6p duplication syndrome: Microarray‐based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS)

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