scholarly journals Caffeine Accelerates Cystic Kidney Disease in a Pkd1-Deficient Mouse Model

2019 ◽  
Vol 52 (5) ◽  
pp. 1061-1074 ◽  
Author(s):  
Renata Meca ◽  
◽  
Bruno E. Balbo ◽  
Milene Subtil Ormanji ◽  
Jonathan M. Fonseca ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Mouse Model ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Deficient Mouse

scholarly journals Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

2018 ◽  
Vol 115 (49) ◽  
pp. 12489-12494 ◽  
Author(s):  
Simon A. Ramsbottom ◽  
Elisa Molinari ◽  
Shalabh Srivastava ◽  
Flora Silberman ◽  
Charline Henry ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Mouse Model ◽  
Exon Skipping ◽  
Joubert Syndrome ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Kidney Cells ◽  
Promising Therapeutic Approach

Genetic treatments of renal ciliopathies leading to cystic kidney disease would provide a real advance in current therapies. Mutations in CEP290 underlie a ciliopathy called Joubert syndrome (JBTS). Human disease phenotypes include cerebral, retinal, and renal disease, which typically progresses to end stage renal failure (ESRF) within the first two decades of life. While currently incurable, there is often a period of years between diagnosis and ESRF that provides a potential window for therapeutic intervention. By studying patient biopsies, patient-derived kidney cells, and a mouse model, we identify abnormal elongation of primary cilia as a key pathophysiological feature of CEP290-associated JBTS and show that antisense oligonucleotide (ASO)-induced splicing of the mutated exon (41, G1890*) restores protein expression in patient cells. We demonstrate that ASO-induced splicing leading to exon skipping is tolerated, resulting in correct localization of CEP290 protein to the ciliary transition zone, and restoration of normal cilia length in patient kidney cells. Using a gene trap Cep290 mouse model of JBTS, we show that systemic ASO treatment can reduce the cystic burden of diseased kidneys in vivo. These findings indicate that ASO treatment may represent a promising therapeutic approach for kidney disease in CEP290-associated ciliopathy syndromes.

scholarly journals Loss of Glis2/NPHP7 causes kidney epithelial cell senescence and suppresses cyst growth in the Kif3a mouse model of cystic kidney disease

2016 ◽  
Vol 89 (6) ◽  
pp. 1307-1323 ◽  
Author(s):  
Dongmei Lu ◽  
Alysha Rauhauser ◽  
Binghua Li ◽  
Chongyu Ren ◽  
Kayla McEnery ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Epithelial Cell ◽  
Mouse Model ◽  
Cell Senescence ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Kidney Epithelial Cell ◽  
Cyst Growth

Phthalate Esters, Cystic Kidney Disease in Animals and Possible Effects on Human Health: A Review

1990 ◽  
Vol 9 (6) ◽  
pp. 397-401 ◽  
Author(s):  
K.N. Woodward
Keyword(s):  
Kidney Disease ◽  
Human Health ◽  
Phthalate Esters ◽  
Renal Cysts ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Peroxisome Proliferation ◽  
Peroxisome Proliferators ◽  
Prolonged Administration ◽  
Route Of Exposure

1 Phthalate esters are known to cause hepatic peroxisome proliferation in rodents and, after prolonged administration, hepatocarcinogenesis. Peroxisome proliferators as a group are hepatocarcinogenic. The mechanism is not known but it does not appear to involve a direct genotoxic element. 2 DEHP and DBP have been shown to cause renal cysts in rodents and they also produce renal peroxisome proliferation. There are no data to causally link the two phenomena. 3 Although renal cysts have been noted in haemodialysis patients and haemodialysis is a route of exposure to DEHP, there are no data to suggest a cause and effect relationship. 4 More studies are needed on the mechanism of renal cystogenesis.

Robinow syndrome: report of two patients with cystic kidney disease

2008 ◽  
Vol 37 (6) ◽  
pp. 481-484 ◽  
Author(s):  
Lynn Wiens ◽  
D. K. Strickland ◽  
Barbara Sniffen ◽  
Bradley A. Warady
Keyword(s):  
Kidney Disease ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Robinow Syndrome ◽  
Syndrome Report

scholarly journals New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report

2021 ◽  
Vol 15 ◽  
pp. 117955652199235
Author(s):  
Jessica Maria Forero-Delgadillo ◽  
Vanessa Ochoa ◽  
Natalia Duque ◽  
Jaime Manuel Restrepo ◽  
Hernando Londoño ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Novel Mutation ◽  
Clinical Manifestations ◽  
Renal Cysts ◽  
Renal Dysplasia ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Incomplete Penetrance ◽  
Wide Range ◽  
Stage Renal Disease

Background: Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end stage renal disease in children. Diagnosis by genetic testing has proven challenging due to its genetic and phenotypic heterogeneity, as well as incomplete penetrance. We report a case on a 16-months old female with a history of renal cysts and a PAX2 mutation. Case presentation: The patient presented with a prenatal diagnosis of Potter sequence and a postnatal diagnosis of renal cysts. An ultrasound at 20 weeks gestation revealed right renal agenesis and possible left renal dysplasia. Post natal genetic analyses identified a novel mutation in PAX2. Conclusion: Cystic kidney disease is often underdiagnosed due to its variable expressivity and wide range of clinical manifestations; PAX2 genetic screening should be considered for all patients with CAKUT.

scholarly journals Towards Modelling Genetic Kidney Diseases with Human Pluripotent Stem Cells

Nephron ◽  
2021 ◽  
pp. 1-12
Author(s):  
Kirsty M. Rooney ◽  
Adrian S. Woolf ◽  
Susan J. Kimber
Keyword(s):  
Stem Cell ◽  
Kidney Disease ◽  
Cell Biology ◽  
Kidney Diseases ◽  
Premature Mortality ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Metanephric Mesenchyme ◽  
Potential Therapeutic Application ◽  
Made In

<b><i>Background:</i></b> Kidney disease causes major suffering and premature mortality worldwide. With no cure for kidney failure currently available, and with limited options for treatment, there is an urgent need to develop effective pharmaceutical interventions to slow or prevent kidney disease progression. <b><i>Summary:</i></b> In this review, we consider the feasibility of using human pluripotent stem cell-derived kidney tissues, or organoids, to model genetic kidney disease. Notable successes have been made in modelling genetic tubular diseases (e.g., cystinosis), polycystic kidney disease, and medullary cystic kidney disease. Organoid models have also been used to test novel therapies that ameliorate aberrant cell biology. Some progress has been made in modelling congenital glomerular disease, even though glomeruli within organoids are developmentally immature. Less progress has been made in modelling structural kidney malformations, perhaps because sufficiently mature metanephric mesenchyme-derived nephrons, ureteric bud-derived branching collecting ducts, and a prominent stromal cell population are not generated together within a single protocol. <b><i>Key Messages:</i></b> We predict that the field will advance significantly if organoids can be generated with a full complement of cell lineages and with kidney components displaying key physiological functions, such as glomerular filtration. The future economic upscaling of reproducible organoid generation will facilitate more widespread research applications, including the potential therapeutic application of these stem cell-based technologies.

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