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Published on: June 23, 2015
Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease
1Department of Allied Health Sciences, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
Insights
Autosomal recessive polycystic kidney disease (ARPKD) presents significant neurological challenges and impacts neurocognitive function in children. Early identification and management are crucial for improving outcomes in this rare genetic disorder.
Area of Science:
- Pediatric Nephrology
- Neuroscience
- Genetics
Background:
- Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder affecting approximately 1 in 20,000 live births.
- Neonatal mortality is high due to respiratory failure, with survivors facing progressive kidney and liver disease, often requiring dual organ transplants.
- Neurological and neuropsychological impairments are significant concerns due to chronic illness, hypertension, organ transplantation, and critical brain development periods.
Purpose of the Study:
- To provide an overview of the challenges in ARPKD, focusing on neurological factors and neurocognitive functioning.
- To identify risk factors for neurological impairment in children with ARPKD.
- To review existing studies on neurocognitive outcomes in this population.
Main Methods:
- Mini-review of existing literature on ARPKD.
- Analysis of factors contributing to neurological and neuropsychological impairment.
- Discussion of studies investigating neurocognitive functioning in ARPKD patients.
Main Results:
- Children with ARPKD face multiple risks for neurological impairment, including chronic kidney disease, hypertension, liver disease, and transplantation.
- These risk factors are present during critical stages of brain development.
- Limited studies exist on the neurocognitive functioning of children with ARPKD, highlighting a gap in research.
Conclusions:
- Significant clinical and research challenges exist in studying neurocognitive functioning in pediatric ARPKD.
- Further research is needed to understand and address the neurocognitive impact of ARPKD.
- Recommendations for clinical and research directions are proposed for this complex condition.
Abstract:
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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