scholarly journals Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

2014 ◽  
Vol 29 (4) ◽  
pp. 695-704 ◽  
Author(s):  
Asaf Vivante ◽  
Stefan Kohl ◽  
Daw-Yang Hwang ◽  
Gabriel C. Dworschak ◽  
Friedhelm Hildebrandt
Keyword(s):  
Urinary Tract ◽  
Congenital Anomalies ◽  
Single Gene

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

2012 ◽  
Vol 2012 ◽  
pp. 1-10 ◽  
Author(s):  
Ihor V. Yosypiv
Keyword(s):  
Urinary Tract ◽  
Congenital Anomalies ◽  
Genetic Disorder ◽  
Single Gene ◽  
Mouse Mutants ◽  
Gene Defects ◽  
End Stage ◽  
Genetic Contributions ◽  
New Strategies

Congenital anomalies of the kidney and urinary tract (CAKUTs) occur in 3–6 per 1000 live births, account for the most cases of pediatric end-stage kidney disease (ESKD), and predispose an individual to hypertension and cardiovascular disease throughout life. Although CAKUTs are a part of many known syndromes, only few single-candidate causative genes have been implicated so far in nonsyndromic cases of human CAKUT. Evidence from mouse models supports the hypothesis that non-syndromic human CAKUT may be caused by single-gene defects. Because increasing numbers of children with CAKUT are surviving to adulthood, better understanding of the molecular pathogenesis of CAKUT, development of new strategies aiming at prevention of CAKUT, preservation of renal function, and avoidance of associated cardiovascular morbidity are needed. In this paper, we will focus on the knowledge derived from the study of syndromic and non-syndromic forms of CAKUT in humans and mouse mutants to discuss the role of genetic, epigenetic, andin uteroenvironmental factors in the pathogenesis of non-syndromic forms of CAKUT in children with particular emphasis on the genetic contributions to CAKUT.

scholarly journals Protocol and Baseline Data on Renal Autologous Cell Therapy Injection in Adults with Chronic Kidney Disease Secondary to Congenital Anomalies of the Kidney and Urinary Tract

2021 ◽  
pp. 1-6
Author(s):  
Joseph Stavas ◽  
Maria Diaz-Gonzalez de Ferris ◽  
Ashley Johns ◽  
Deepak Jain ◽  
Tim Bertram
Keyword(s):  
Chronic Kidney Disease ◽  
Renal Function ◽  
Urinary Tract ◽  
Kidney Disease ◽  
Cell Therapy ◽  
Congenital Anomalies ◽  
Preliminary Analysis ◽  
Autologous Cell ◽  
Tissue Acquisition ◽  
Autologous Cell Therapy

Background: Advanced cell therapies with autologous, homologous cells show promise to affect reparative and restorative changes in the chronic kidney disease (CKD) nephron. We present our protocol and preliminary analysis of an IRB-approved, phase I single-group, open-label trial that tests the safety and efficacy of Renal Autologous Cell Therapy (REACT; NCT 04115345) in adults with congenital anomalies of the kidney and urinary tract (CAKUT). Methods: Adults with surgically corrected CAKUT and CKD stages 3 and 4 signed an informed consent and served as their “own” baseline control. REACT is an active biological ingredient acquired from a percutaneous tissue acquisition from the patient’s kidney cortex. The specimen undergoes a GMP-compliant manufacturing process that harvests the selected renal cells composed of progenitors for renal repair, followed by image-guided locoregional reinjection into the patient’s renal cortex. Participants receive 2 doses at 6-month intervals. Primary outcomes are stable renal function and stable/improved quality of life. Additional exploratory endpoints include the impact of REACT on blood pressure, vitamin D levels, hemoglobin, hematocrit and kidney volume by MRI analysis. Results: Four men and 1 woman were enrolled and underwent 5 cell injections. Their characteristics were as follows: mean 52.8 years (SD 17.7 years), 1 Hispanic, 4 non-Hispanic, and 5 white. There were no renal tissue acquisition, cell injection, or cell product-related complications at baseline. Conclusion: REACT is demonstrating feasibility and patient safety in preliminary analysis. Autologous cell therapy treatment has the potential to stabilize or improve renal function in CAKUT-associated CKD to delay or avert dialysis. Patient enrollment and follow-up are underway.

scholarly journals Functional Models for Congenital Anomalies of the Kidney and Urinary Tract

Nephron ◽  
2014 ◽  
Vol 129 (1) ◽  
pp. 62-67 ◽  
Author(s):  
Glenn van de Hoek ◽  
Nayia Nicolaou ◽  
Rachel H. Giles ◽  
Nine V.A.M. Knoers ◽  
Kirsten Y. Renkema ◽  
...  
Keyword(s):  
Urinary Tract ◽  
Congenital Anomalies ◽  
Functional Models

Ultrasound-Based Renal Parenchymal Area and Kidney Function Decline in Infants With Congenital Anomalies of the Kidney and Urinary Tract

2021 ◽  
Vol 41 (5) ◽  
pp. 427-433
Author(s):  
Bernarda Viteri ◽  
Mohamed Elsingergy ◽  
Jennifer Roem ◽  
Derek Ng ◽  
Bradley Warady ◽  
...  
Keyword(s):  
Urinary Tract ◽  
Kidney Function ◽  
Congenital Anomalies ◽  
Kidney Function Decline

CONGENITAL ANOMALIES

PEDIATRICS ◽  
1951 ◽  
Vol 7 (5) ◽  
pp. 607-610
Author(s):  
JOSEF WARKANY
Keyword(s):  
Urinary Tract ◽  
Surgical Treatment ◽  
American Academy ◽  
Experimental Work ◽  
Congenital Anomalies ◽  
Intestinal Tract ◽  
Diagnostic Methods ◽  
American Academy Of Pediatrics ◽  
General Aspects ◽  
Dietary Deficiency

I AM greatly honored by the Award which the American Academy of Pediatrics has bestowed upon me and I am certain that this recognition of our studies will stimulate my co-workers and myself to further efforts in the line of work which we began about 12 years ago. I have repeatedly had the privilege of presenting our experimental work to meetings of the American Academy of Pediatrics and it is not necessary, therefore, to describe to you again in detail the congenital anomalies induced in animals by maternal dietary deficiency. It seems preferable to give you today a brief summary of the general aspects and results of our studies and to present to you some of the conclusions which may be drawn from them. The incentive to our experimental work was a marked interest in congenital anomalies of children. Adverse factors acting in prenatal life contribute appreciably to the mortality of infants and many children go through life deformed or crippled because of unfavorable intrauterine conditions. Congenital anomalies are at the root of many chronic and of some intractable diseases of childhood, a fact which is brought out with increasing certainty by improved diagnostic methods. Without going into details I wish to point out how many congenital anomalies of the urinary tract are now recognized intra vitam, which only one or two decades ago puzzled us by their nonspecific symptoms. Congenital anomalies of the intestinal tract which were previously diagnosed as "vomiting," "malnutrition," etc., are now better understood and often accessible to surgical treatment.

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