Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment

Halvorson, Christian R; Bremmer, Matthew; Jacobs, Stephen C.

doi:10.2147/ijnrd.s6939

Cited by 38 publications

(27 citation statements)

References 114 publications

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“…These inflammatory mediators can be found in cyst fluid and are thought to play a role in the fibrosis of the cellular matrix and thickening of the epithelial basement membrane. 7 …”

Section: Questions/discussion Points Part IImentioning

confidence: 99%

“…These inflammatory mediators can be found in cyst fluid and are thought to play a role in the fibrosis of the cellular matrix and thickening of the epithelial basement membrane. 7 What Are the Expected Gross Features of ADPKD as Seen in Figure 2? Described the Early and Late Histologic Findings in This Disease as Seen in Figures 3 and 4 Over time, both kidneys become enlarged and appear predominantly composed of discrete cysts that develop randomly throughout the kidney (Figure 2).…”

Section: Describe the Pathogenesis Of Autosomal Dominant Polycystic Kmentioning

confidence: 99%

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Educational Case: Autosomal Dominant Polycystic Kidney Disease

Frazier

Huppmann

2020

Academic Pathology

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The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology. For additional information, and a full list of learning objectives for all three competencies, see http://journals.sagepub.com/doi/10.1177/2374289517715040 .1

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“…These inflammatory mediators can be found in cyst fluid and are thought to play a role in the fibrosis of the cellular matrix and thickening of the epithelial basement membrane. 7 …”

Section: Questions/discussion Points Part IImentioning

confidence: 99%

Section: Describe the Pathogenesis Of Autosomal Dominant Polycystic Kmentioning

confidence: 99%

Educational Case: Autosomal Dominant Polycystic Kidney Disease

Frazier

Huppmann

2020

Academic Pathology

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“…Similar perspectives on testing have also been noted with other later onset progressive conditions including Huntington disease, characterised by a motor and cognitive deterioration with unpredictable prognosis leading to similar decisional uncertainty in views about testing. [42][43][44] For patients with Huntington disease, family members could be perceived to have a supportive role or put pressure on making decisions in terms of being presymptomatically tested. They considered the consequences of sharing or withholding information about the diagnosis.…”

Section: Discussionmentioning

confidence: 99%

‘A sword of Damocles’: patient and caregiver beliefs, attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease: a focus group study

et al. 2020

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Background and objectivesPresymptomatic testing is available for early diagnosis of hereditary autosomal dominant polycystic kidney disease (ADPKD). However, the complex ethical and psychosocial implications can make decision-making challenging and require an understanding of patients’ values, goals and priorities. This study aims to describe patient and caregiver beliefs and expectations regarding presymptomatic testing for ADPKD.Design, setting and participants154 participants (120 patients and 34 caregivers) aged 18 years and over from eight centres in Australia, France and Korea participated in 17 focus groups. Transcripts were analysed thematically.ResultsWe identified five themes: avoiding financial disadvantage (insecurity in the inability to obtain life insurance, limited work opportunities, financial burden); futility in uncertainty (erratic and diverse manifestations of disease limiting utility, taking preventive actions in vain, daunted by perplexity of results, unaware of risk of inheriting ADPKD); lacking autonomy and support in decisions (overwhelmed by ambiguous information, medicalising family planning, family pressures); seizing control of well-being (gaining confidence in early detection, allowing preparation for the future, reassurance in family resilience); and anticipating impact on quality of life (reassured by lack of symptoms, judging value of life with ADPKD).ConclusionsFor patients with ADPKD, presymptomatic testing provides an opportunity to take ownership of their health through family planning and preventive measures. However, these decisions can be wrought with tensions and uncertainty about prognostic implications, and the psychosocial and financial burden of testing. Healthcare professionals should focus on genetic counselling, mental health and providing education to patients’ families to support informed decision-making. Policymakers should consider the cost burden and risk of discrimination when informing government policies. Finally, patients are recommended to focus on self-care from an early age.

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“…The disease itself is one of the most common causes of end-stage renal disease (ESRD), with statistics showing that ADPKD accounts for around 10% of all ESRD cases [2]. Symptoms of the disease include the presentation of renal and hepatic cysts, together with hypertension, gross haematuria, nephrolithiasis, urinary tract infection, shortness of breath and a general discomfort in the lower back [3]. Whilst children with the disease are usually asymptomatic, symptoms of the disease tend to manifest in adults between the ages of 30 and 50 [3].…”

Section: The Clinical Symptoms Of Genetically Inherited Chronic Kidnementioning

confidence: 99%

“…Symptoms of the disease include the presentation of renal and hepatic cysts, together with hypertension, gross haematuria, nephrolithiasis, urinary tract infection, shortness of breath and a general discomfort in the lower back [3]. Whilst children with the disease are usually asymptomatic, symptoms of the disease tend to manifest in adults between the ages of 30 and 50 [3]. ADPKD has been associated with mutations in two genes-PKD1 and PKD2-either of which encode for Polycystin-1 (PC-1) and Polycystin-2 (PC-2), respectively.…”

Section: The Clinical Symptoms Of Genetically Inherited Chronic Kidnementioning

confidence: 99%

The Role of Wnt Signalling in Chronic Kidney Disease (CKD)

Malik

Modarage

Goggolidou

2020

Genes

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Chronic kidney disease (CKD) encompasses a group of diverse diseases that are associated with accumulating kidney damage and a decline in glomerular filtration rate (GFR). These conditions can be of an acquired or genetic nature and, in many cases, interactions between genetics and the environment also play a role in disease manifestation and severity. In this review, we focus on genetically inherited chronic kidney diseases and dissect the links between canonical and non-canonical Wnt signalling, and this umbrella of conditions that result in kidney damage. Most of the current evidence on the role of Wnt signalling in CKD is gathered from studies in polycystic kidney disease (PKD) and nephronophthisis (NPHP) and reveals the involvement of β-catenin. Nevertheless, recent findings have also linked planar cell polarity (PCP) signalling to CKD, with further studies being required to fully understand the links and molecular mechanisms.

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Polycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment

Cited by 38 publications

References 114 publications

Educational Case: Autosomal Dominant Polycystic Kidney Disease

Educational Case: Autosomal Dominant Polycystic Kidney Disease

‘A sword of Damocles’: patient and caregiver beliefs, attitudes and perspectives on presymptomatic testing for autosomal dominant polycystic kidney disease: a focus group study

The Role of Wnt Signalling in Chronic Kidney Disease (CKD)

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