scholarly journals Generation of heterozygous PKD1 mutant pigs exhibiting early-onset renal cyst formation

2022 ◽  
Author(s):  
Masahito Watanabe ◽  
Kazuhiro Umeyama ◽  
Kazuaki Nakano ◽  
Hitomi Matsunari ◽  
Toru Fukuda ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Interstitial Fibrosis ◽  
Renal Cysts ◽  
Cyst Formation ◽  
Renal Tissue ◽  
Progressive Development ◽  
Autosomal Dominant Polycystic Kidney ◽  
Asymptomatic Stage ◽  
Stage Renal Disease ◽  
End Stage

AbstractAutosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease, manifesting as the progressive development of fluid-filled renal cysts. In approximately half of all patients with ADPKD, end-stage renal disease results in decreased renal function. In this study, we used CRISPR-Cas9 and somatic cell cloning to produce pigs with the unique mutation c.152_153insG (PKD1insG/+). Pathological analysis of founder cloned animals and progeny revealed that PKD1insG/+ pigs developed many pathological conditions similar to those of patients with heterozygous mutations in PKD1. Pathological similarities included the formation of macroscopic renal cysts at the neonatal stage, number and cystogenic dynamics of the renal cysts formed, interstitial fibrosis of the renal tissue, and presence of a premature asymptomatic stage. Our findings demonstrate that PKD1insG/+ pigs recapitulate the characteristic symptoms of ADPKD.

scholarly journals Identification of patients with autosomal dominant polycystic kidney disease at highest risk for end-stage renal disease.

1997 ◽  
Vol 8 (10) ◽  
pp. 1560-1567 ◽  
Author(s):  
A M Johnson ◽  
P A Gabow
Keyword(s):  
Kidney Disease ◽  
Risk Ratio ◽  
End Stage Renal Disease ◽  
Autosomal Dominant ◽  
Renal Survival ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Stage Renal Disease ◽  
End Stage ◽  
Risk Ratios

To identify those potential factors that, early in the course of disease, mark a population of patients with autosomal dominant polycystic kidney disease (ADPKD) who have worse renal survival, survival analysis and risk ratio calculation for 1215 ADPKD patients were performed. Survival times were calculated as time to dialysis, transplantation, or death. Risk ratios were calculated using the Cox proportional hazards model. Three hundred eighty-eight patients entered end-stage renal disease and 205 patients died. ADPKD2 subjects had longer renal survival than ADPKD1 subjects (median survival, 68 versus 53 yr; P < 0.0005; risk ratio, 2.5). Women had significantly better renal survival than men (56 versus 52 yr; P < 0.0001; risk ratio, 1.6). Subjects who were diagnosed before age 30 and those who developed hypertension before age 35 had worse renal survival than those subjects who were diagnosed after age 30 or those who remained normotensive after age 35, respectively (age of diagnosis: 49 versus 59 yr; P < 0.0001; risk ratio, 3.2; hypertension: 51 versus 65 yr; P < 0.0001; risk ratio, 4.4). Similarly, those who had an episode of gross hematuria before age 30 had a worse renal outcome than those who did not (49 versus 59 yr; P < 0.0001; risk ratio, 2.6). We have also calculated risk ratios for a combined model. When therapeutic interventions become available for this disease, these populations with high risk ratios should be considered for such interventions.

Diagnosis of infected kidney cysts in patients with autosomal dominant polycystic kidney disease and end-stage renal disease

Urologiia ◽  
2021 ◽  
Vol 3_2021 ◽  
pp. 50-55
Author(s):  
A.E. Lubennikov Lubennikov ◽  
A.A. Shishimorov Shishimorov ◽  
R.N. Trushkin Trushkin ◽  
T.K. Isaev T ◽  
O.N. Kotenko Kotenko ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Renal Disease ◽  
Polycystic Kidney Disease ◽  
End Stage Renal Disease ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Kidney Cysts ◽  
Autosomal Dominant Polycystic Kidney ◽  
Stage Renal Disease ◽  
End Stage

scholarly journals An Overview of In Vivo and In Vitro Models for Autosomal Dominant Polycystic Kidney Disease: A Journey from 3D-Cysts to Mini-Pigs

2020 ◽  
Vol 21 (12) ◽  
pp. 4537
Author(s):  
Svenja Koslowski ◽  
Camille Latapy ◽  
Pierrïck Auvray ◽  
Marc Blondel ◽  
Laurent Meijer
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
In Vitro Models ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Stage Renal Disease ◽  
End Stage

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inheritable cause of end stage renal disease and, as of today, only a single moderately effective treatment is available for patients. Even though ADPKD research has made huge progress over the last decades, the precise disease mechanisms remain elusive. However, a wide variety of cellular and animal models have been developed to decipher the pathophysiological mechanisms and related pathways underlying the disease. As none of these models perfectly recapitulates the complexity of the human disease, the aim of this review is to give an overview of the main tools currently available to ADPKD researchers, as well as their main advantages and limitations.

Peritoneal Dialysis for Patients with Autosomal Dominant Polycystic Kidney Disease

2017 ◽  
Vol 37 (4) ◽  
pp. 384-388 ◽  
Author(s):  
Sana Khan ◽  
Anna Giuliani ◽  
Carlo Crepaldi ◽  
Claudio Ronco ◽  
Mitchell H. Rosner
Keyword(s):  
Peritoneal Dialysis ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Disease Patient ◽  
Cystic Kidney ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney ◽  
Stage Renal Disease ◽  
End Stage

End-stage renal disease secondary to autosomal dominant poly-cystic kidney (ADPKD) is a common issue worldwide. Peritoneal dialysis (PD) is a reasonable option for renal replacement therapy for these patients and should not be withheld due to concerns that the patient may not tolerate the fluid volumes in the peritoneal cavity. This review covers the existing data on the outcomes and complications associated with the use of PD in the polycystic kidney disease patient. In general, PD is well tolerated and outcomes in ADPKD patients are equivalent to or better than other patient groups.

scholarly journals Hypertension in adult polycystic kidney disease: a narrative review

2019 ◽  
Vol 8 (2) ◽  
pp. 122-126
Author(s):  
Sarah Mian ◽  
Yogesh Acharya ◽  
Ranjan Dahal
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Focal Point ◽  
Polycystic Kidney ◽  
Adult Polycystic Kidney Disease ◽  
Renal Disorder ◽  
Autosomal Dominant Polycystic Kidney ◽  
Stage Renal Disease ◽  
End Stage ◽  
Review Current

Autosomal dominant polycystic kidney disease (ADPKD) is an inherited renal disorder that impacts approximately 12 million worldwide. It is characterized by bilateral kidney enlargement and cystic growth. Hypertension (HTN) is a focal point in the management of ADPKD and is linked to a faster progression to end stage renal disease. Current novel therapies have proven to reduce the progression of renal damage. The ideal goal is to minimize risk through preventative studies and pharmacology to further increase life expectancy and quality. The purpose of this article is to highlight the importance of blood pressure management in ADPKD and review current literature to determine the most effective preventative pharmacotherapy.

Autosomal dominant polycystic kidney disease

2018 ◽  
Author(s):  
Albert C. M. Ong ◽  
Richard Sandford
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Health Care Systems ◽  
The United States ◽  
Polycystic Kidney ◽  
Care Systems ◽  
Autosomal Dominant Polycystic Kidney ◽  
Stage Renal Disease ◽  
End Stage

Based on an estimated population prevalence of between 1 in 400 and 1 in 1000, there are over 60,000 individuals with or at risk of developing complications associated with autosomal dominant polycystic kidney disease (ADPKD) in the United Kingdom. This equates to over 300,000 people in the United States and 7 million worldwide. Once diagnosed, an individual with ADPKD will require long-term medical follow-up and treatment with an unknown cost to national health care systems. A major proportion, probably two-thirds, will develop end-stage renal disease (ESRD) requiring renal replacement therapy—dialysis or transplantation. ADPKD is therefore the commonest genetic cause of ESRD. Most centres worldwide report that approximately one in ten patients receiving dialysis therapy have a diagnosis of ADPKD. Improvements in healthcare for individuals with ADPKD will therefore impact directly on patients, their families, and healthcare resources.

scholarly journals Endovascular Coiling in a Patient with Chronic Kidney Disease—A Challenge for Anesthesiologist

2020 ◽  
Author(s):  
Navneh Samagh ◽  
Nidhi Singh ◽  
Kiran Jangra ◽  
Ajay Kumar
Keyword(s):  
Kidney Disease ◽  
Fluid Management ◽  
Artery Aneurysm ◽  
Endovascular Coiling ◽  
Polycystic Kidney ◽  
Contrast Induced Nephropathy ◽  
Autosomal Dominant Polycystic Kidney ◽  
Stage Renal Disease ◽  
End Stage ◽  
Cerebral Artery Aneurysm

AbstractA 41-year-old male patient, a known case of autosomal dominant polycystic kidney disease (ADPCKD), presented to our institute with right middle cerebral artery aneurysm for which balloon-assisted endovascular coiling was planned. The major comorbidities were hypertension and end-stage renal disease (ESRD) on hemodialysis, twice weekly. Endovascular coiling was performed under general anesthesia, and special precautions were taken with regard to monitoring, fluid management, use of heparin, and contrast agent. The intraoperative and postoperative course was uneventful, and the patient was discharged after 7 days. In this report, various perioperative challenges of patients with chronic renal failure during coiling are discussed along with the measures to prevent the occurrence of contrast-induced nephropathy.

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