Childhood Polycystic Kidney Disease

Patil, Ameya; Sweeney, William E.; Avner, Ellis D.; Pan, Cynthia G.

doi:10.15586/codon.pkd.2015.ch2

Cited by 7 publications

(9 citation statements)

References 124 publications

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“…Second, the categorization of primary renal disease used by the ANZDATA Registry has remained constant for many years. We hypothesize the vast majority of patients in the cohort are likely to have ADPKD because this is by the most common form of cystic renal disease associated with CKD and ESKD in adults, with an estimated population prevalence of ~1:2500 (as discussed earlier in the discussion) whereas the autosomal recessive variant falls into the ultra-rare category with an estimated incidence of 1:20,000 to 40,000 [ 46 ] and almost all manifest at birth or early childhood. In this regard, the latter are more likely to have been reported under the “juvenile polycystic disease” category, not included in our analysis.…”

Section: Discussionmentioning

confidence: 99%

Incidence and survival of end-stage kidney disease due to polycystic kidney disease in Australia and New Zealand (1963–2014)

Fernando

Dent

McDonald

et al. 2017

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BackgroundThe aim of this study was to determine whether the incidence and survival of patients with end-stage kidney disease (ESKD) due to polycystic kidney disease (PKD) has changed in Australia and New Zealand.MethodsData for all PKD patients who developed ESKD and commenced renal replacement therapy (RRT) was assessed using the Australia and New Zealand Dialysis and Transplant Registry from 1963 to 2014.ResultsA total 4678 patients with ESKD due to PKD received RRT during the study period. The incidence rate of ESKD (per million population per year) due to PKD rose by 3.2-fold (1970–2010), but the percentage increase between each decade decreased (54.4, 43.8, 25.6 and 6.57%). The median age of onset of new patients developing ESKD has been stable since 1990. Haemodialysis was the most common initial mode of RRT (between 62 and 76% of patients) whereas 24–29% received peritoneal dialysis. The 5-year survival rate of PKD patients on RRT (censored for transplantation and adjusted for age) improved from 26 to 84%, with the percentage increase between each successive time period being 123, 7, 21, 19 and 7.4%. The percentage of deaths on RRT due to cerebrovascular disease declined from 15 to 6%.ConclusionsThe incidence and age of onset of ESKD due to PKD has remained unchanged in the modern era though patient survival on RRT has continued to improve. These data suggest that the development and implementation of disease-specific treatments prior to RRT is needed to effectively diminish the incidence of ESKD due to PKD.

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Section: Discussionmentioning

confidence: 99%

Incidence and survival of end-stage kidney disease due to polycystic kidney disease in Australia and New Zealand (1963–2014)

Fernando

Dent

McDonald

et al. 2017

Popul Health Metrics

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“…As the majority of patients remain a- or pauci- symptomatic until adulthood, ADPKD is still often considered as a late-onset disease ( 15 ). Historically, ADPKD was termed “adult” polycystic kidney disease due to this classic presentation ( 16 ). However, comorbidities might be underdiagnosed in childhood if not actively looked for by caregivers as not all cause complaints.…”

Section: Autosomal Dominant Polycystic Kidney Disease (Adpkd) and Itsmentioning

confidence: 99%

“…However, before heading toward cystogenesis inhibiting treatment options in children, disease manifestations requiring symptomatic treatment should be identified and managed adequately ( 16 ).…”

Section: Childhood As a Critical Therapeutic Window For (Future) Thermentioning

confidence: 99%

Is Autosomal Dominant Polycystic Kidney Disease Becoming a Pediatric Disorder?

2017

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Autosomal dominant polycystic kidney disease (ADPKD) affects 1 in 400 to 1,000 live births, making it the most common monogenic cause of renal failure. Although no definite cure is available yet, it is important to affect disease progression by influencing modifiable factors such as hypertension and proteinuria. Besides this symptomatic management, the only drug currently recommended in Europe for selected adult patients with rapid disease progression, is the vasopressin receptor antagonist tolvaptan. However, the question remains whether these preventive interventions should be initiated before extensive renal damage has occurred. As renal cyst formation and expansion begins early in life, frequently in utero, ADPKD should no longer be considered an adult-onset disease. Moreover, the presence of hypertension and proteinuria in affected children has been reported to correlate well with disease severity. Until now, it is controversial whether children at-risk for ADPKD should be tested for the presence of the disease, and if so, how this should be done. Herein, we review the spectrum of pediatric ADPKD and discuss the pro and contra of testing at-risk children and the challenges and unmet needs in pediatric ADPKD care.

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“…The PKHD1 gene encodes the fibrocystin protein whose functions remain unclear at this time. In most cases, this condition is uncovered during the end of pregnancy or during the neonatal period ( 9 ), with the infant manifesting significantly enlarged kidneys, progressive renal insufficiency, and arterial hypertension ( 2 , 3 ), the latter being present in nearly 80% of infants. Further, many infants will show pulmonary insufficiency that can result in death in about one-third of afflicted infants.…”

Section: Epidemiology and Early Developmental Course Of Arpkdmentioning

confidence: 99%

“…Cystic kidney diseases represent a heterogeneous group of renal conditions characterized by tubular cysts, glomerular cysts, or dysplasia. Within this heterogenous group, polycystic kidney disease typically refers to two conditions: autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD), that are genetically distinct ( 1 , 2 ). In most instances, these two conditions manifest in different developmental epochs, with the ARPKD being associated with younger children and ADPKD being associated with adults; however, given their genetic basis, both conditions can appear at any developmental time period.…”

Section: Introductionmentioning

confidence: 99%

Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease

Hooper

2017

Front. Pediatr.

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This mini review provides an overview of the issues and challenges inherent in autosomal recessive polycystic kidney disease (ARPKD), with a particular focus on the neurological factors and neurocognitive functioning of this population. ARPKD typically is discovered at the end of pregnancy or during the neonatal developmental period and occurs in approximately 1 in 20,000 live births. During the neonatal period, there is a relatively high risk of death, with many infants dying from respiratory failure. As the child ages, they experience progressive kidney disease and become increasingly vulnerable to liver disease, with many individuals eventually requiring dual organ transplants. This mini review provides a brief description of ARPKD and describes the various factors that place children with ARPKD at risk for neurological and neuropsychological impairment (e.g., a genetic condition leading to chronic kidney disease and eventual transplant; difficult-to-treat hypertension; eventual liver disease; possible dual transplantation of the kidneys and liver; chronic lung disease), including that these factors are present during a critical period of brain development. Further, the mini review discusses the available studies that have addressed the neurocognitive functioning in children with ARPKD. This paper concludes by providing the key clinical and research challenges that face the field of pediatric nephrology with respect to the clinical and scientific study of the neurocognitive functioning of children with ARPKD. Selected directions are offered in both the clinical and research arenas for this multiorgan chronic condition.

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Childhood Polycystic Kidney Disease

Cited by 7 publications

References 124 publications

Incidence and survival of end-stage kidney disease due to polycystic kidney disease in Australia and New Zealand (1963–2014)

Incidence and survival of end-stage kidney disease due to polycystic kidney disease in Australia and New Zealand (1963–2014)

Is Autosomal Dominant Polycystic Kidney Disease Becoming a Pediatric Disorder?

Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease

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