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Awareness weeks guide

Polycystic Kidney Awareness Day

Polycystic Kidney Awareness Day

4th of September 2024

Polycystic kidney disease (PKD) is a lifelong, genetic disease, that worsens over time as fluid-filled cysts form and enlarge both kidneys, often leading to kidney failure.

There are two types of PKD

Autosomal Dominant PKD (ADPKD)

  • ADPKD is the ‘adult’ form of PKD and one of the most common genetic diseases. There is usually a family history of ADPKD with parents having a 50% chance of passing the disease on to each of their children. It does not skip a generation. Many of those affected may experience regular pain and high blood pressure while over half may develop kidney failure by the time they are 60 years old.

Autosomal Recessive PKD (ARPKD)

  • ARPKD is the ‘infantile’ form of PKD and a relatively rare form that is usually diagnosed at birth and affects approximately 1 in 20,000 individuals. It usually presents as enlarged kidneys with no family history of kidney disease. Boys and girls are affected equally however, both parents need to carry the gene defect for the child to inherit the disease.

PKD Australia

UpToDate

Autosomal dominant polycystic kidney disease (ADPKD)

Autosomal Recessive PKD (ARPKD)

General

Patient education

Cochrane Library

Guidelines

Patient resources

Reports

Articles

Diagnosis

Research

Treatment

E-books

E-journals

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Articles

Diagnosis

Performance of [18F]FDG PET/CT in diagnosing cyst infections in patients with Autosomal Dominant Polycystic Kidney Disease: A systematic review and a bivariate meta-analysis
[18F]FDG PET/CT has high performance in diagnosing probable cyst infections in ADPKD patients with an impact on management in the majority of patients. Although more studies are warranted, the provided evidence-based data are an important step towards the integration of [18F]FDG PET/CT in clinical and diagnostic guidelines on probable cyst infection in ADPKD patients. Diagnostics 25 July 2024

Biomarkers of kidney disease progression in ADPKD
This review explores the roles of diverse biomarkers—including clinical, genetic, molecular, and imaging biomarkers—in evaluating disease progression and customizing treatments for ADPKD. Kidney international reports 14 July 2024

Exome sequencing of a clinical population for Autosomal Dominant Polycystic Kidney Disease
This study demonstrates substantial genetic and phenotypic variability in ADPKD among patients within a regional health system in the US. JAMA 27 December 2022

Identification and properties of TRPV4 mutant channels present in polycystic kidney disease patients
Polycystic kidney disease (PKD), a disease characterized by enlargement of the kidney through cystic growth is the fourth leading cause of end-stage kidney disease world-wide. TRPV4, a calcium-permeable TRP, channel participates in kidney cell physiology and since TRPV4 forms complexes with another channel whose malfunction is associated to PKD, TRPP2 (or PKD2), the authors sought to determine whether patients with PKD, exhibit previously unknown mutations in TRPV4. Function 4 June 2024

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Research

Native nephrectomies in patients with autosomal dominant polycystic kidney disease: retrospective cohort study
Approximately 1 in 5 patients with autosomal dominant polycystic kidney disease (ADPKD) will undergo a native nephrectomy in their lifetime. These can be emergent or planned and the indications can range from space for kidney transplant, pain, hematuria and frequent urinary tract infections (UTIs). Due to the diverse nature of presentations, there is a lack of certainty about outcomes and optimal management. This study aimed to evaluate preoperative indications and perioperative/postoperative complications in this patient cohort. Irish journal of medical science 12 August 2024

The impact of Autosomal Dominant Polycystic Kidney Disease in children: A nephrological, nutritional, and psychological point of view
Autosomal dominant polycystic kidney disease (ADPKD) is a hereditary disorder characterized by the formation of numerous fluid-filled cysts in the kidneys, leading to progressive renal failure and various extrarenal complications, including hypertension. This review explores the genetic basis of ADPKD, including emerging evidence of epigenetic mechanisms in modulating gene expression and disease progression in ADPKD. Furthermore, it proposes to examine the pathological characteristics of this condition at the nephrological, cardiovascular, nutritional, and psychological levels, emphasizing that the follow-up of patients with ADPKD should be multidisciplinary from a young pediatric age. Biomedicines 12 August 2024

Age of end-stage kidney disease development in autosomal dominant polycystic kidney disease
The age of end-stage kidney disease (ESKD)  development in the course of ADPKD was higher in the last decade compared to the turn of the last century. This effect was not associated with tolvaptan, while patients analysed in the present study were not treated with it. That suggests that even without tolvaptan, efforts towards modification of lifestyle, diet, and treatment of concomitant diseases may delay ESKD development in ADPKD. Medical research journal 8 August 2024

Epidemiology and pregnancy outcomes in patients on chronic dialysis therapy
Chronic kidney disease is diagnosed in 3% of women of childbearing age; pregnant patients represent an even rarer case. As a result of polycystic kidney disease (PKD), the hypothalamus–gonadal hormonal axis is disrupted, resulting in a number of complications that make it difficult to become pregnant, as well as to maintain a pregnancy. Patients are mainly treated with haemodialysis, less frequently with peritoneal dialysis. Pregnancy outcomes are influenced by the type and intensity of dialysis and modifications to drug treatment. This paper examines the roles of chronic kidney disease in pregnant patients. This paper presents the epidemiology and outcome of pregnancy in patients on chronic dialysis therapy. Renal disease and transplantation forum 16 August 2024

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Treatment

Management of high-grade kidney trauma on bilateral polycystic kidney disease: A case report
Highlights:

  • Non-operative management is safe and effective for hemodynamically stable patients with high-grade kidney trauma.
  • Conservative management of high-grade kidney trauma on Bilateral Polycystic Kidney Disease is possible.
  • Clinical and laboratory examination, important things on high-grade kidney trauma on Bilateral Kidney Disease

International journal of surgery case reports 13 August 2024

Potential add-on benefits of dietary intervention in the treatment of Autosomal Dominant Polycystic Kidney Disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of renal failure. The pathogenesis of the disease encompasses several pathways and metabolic alterations, including the hyperactivation of mTOR and suppression of AMPK signaling pathways, as well as mitochondrial dysfunction. This metabolic reprogramming makes epithelial cyst-lining cells highly dependent on glucose for energy and unable to oxidize fatty acids. Evidence suggests that high-carbohydrate diets may worsen the progression of ADPKD, providing the rationale for treating ADPKD patients with calorie restriction and, in particular, with ketogenic dietary interventions, already used for other purposes such as in overweight/obese patients or in the treatment of refractory epilepsy in children. Preclinical studies have demonstrated that calorie restriction may prevent and/or slow disease progression by inducing ketosis, particularly through increased beta-hydroxybutyrate (BHB) levels, which may modulate the metabolic signaling pathways altered in ADKPK. In these patients, although limited, ketogenic intervention studies have shown promising beneficial effects. However, larger and longer randomized controlled trials are needed to confirm their tolerability and safety in long-term maintenance and their additive role in the therapy of polycystic kidney disease. Nutrients 6 August 2024

Randomized trial of nitrate-replete beetroot juice on blood pressure in hypertensive adults with ADPKD
Daily beetroot juice (BRJ) lowered blood pressure (BP) in ADPKD independent of nitrate levels. The antihypertensive effects of BRJ could be due to biologically active nonnitrate components. Kidney international reports 24 July 2024

Evaluation of the renal and cardiovascular effects of long-term Tolvaptan treatment in Autosomal Dominant Polycystic Kidney Disease
These findings suggest that, in addition to slowing kidney progression in ADPKD management, tolvaptan may potentially benefit in preventing cardiac complications. Cardiorenal medicine 28 February 2024

Novel potential therapeutic targets in Autosomal Dominant Polycystic Kidney Disease from the perspective of cell polarity and fibrosis
Autosomal dominant polycystic kidney disease (ADPKD), a congenital genetic disorder, is a notable contributor to the prevalence of chronic kidney disease worldwide. Despite the absence of a complete cure, ongoing research aims for early diagnosis and treatment. Although agents such as tolvaptan and mTOR inhibitors have been utilized, their effectiveness in managing the disease during its initial phase has certain limitations. This review aimed to explore new targets for the early diagnosis and treatment of ADPKD, considering ongoing developments. The authors focus on cell polarity, which is a key factor that influences the process and pace of cyst formation. In addition, they aimed to identify agents or treatments that can prevent or impede the progression of renal fibrosis, ultimately slowing its trajectory toward end-stage renal disease. Recent advances in slowing ADPKD progression have been examined, and potential therapeutic approaches targeting multiple pathways have been introduced. This comprehensive review discusses innovative strategies to address the challenges of ADPKD and provides valuable insights into potential avenues for its prevention and treatment. Biomolecules and therapeutics 1 May 2024

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E-books

This is just a sample of the e-books the library subscribes to – you will need your library login

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E-Journals

A sample of the journals the library subscribes to – you will need your library login

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