Research Topic

Challenges in the Diagnosis and Management of Pediatric Polycystic Kidney Diseases

  • Submission closed.

About this Research Topic

Autosomal Recessive Polycystic Kidney Disease (ARPKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) are both inherited cystic kidney diseases that can span the age spectrum from prenatal presentation to diagnosis in late adolescence and adulthood. ARPKD is characterized by polycystic kidneys and ...

Autosomal Recessive Polycystic Kidney Disease (ARPKD) and Autosomal Dominant Polycystic Kidney Disease (ADPKD) are both inherited cystic kidney diseases that can span the age spectrum from prenatal presentation to diagnosis in late adolescence and adulthood. ARPKD is characterized by polycystic kidneys and the liver lesion, congenital hepatic fibrosis, and is caused by mutations in the gene, PKHD1. Most affected patients present in the prenatal period with enlarged echogenic kidneys with or without oligohydramnios and mortality in the newborn period is approximately 30%. Complications of this rare disease, which occurs in approximately 1: 20,000 births, include chronic kidney disease and its sequelae, with progression to end stage renal disease in about 40% of affected patients by 15 years of age. Growth failure, feeding disorders, portal hypertension and recurrent ascending cholangitis are also important causes of morbidity; hepatic complications are becoming more prominent and potentially life-threatening as children survive into adulthood after kidney transplantation.

ADPKD is more common, with an incidence of 1:1000. In children, the disease is often found incidentally on abdominal imaging performed for other indications (e.g. abdominal pain) or as part of an evaluation for hematuria or hypertension. Neonatal and prenatal presentations, however, are now clearly recognized entities and can mimic ARPKD. This more common form of PKD is due to mutations in one of two genes, PKD1 or PKD2. ADPKD is a multi-organ disease, which is associated with extrarenal cysts (e.g. liver) and significant vascular complications, including cerebral and aortic aneurysms.

ARPKD and ADPKD are usually diagnosed based on established clinical criteria. Genetic testing is available, although there are challenges associated with mutation detection and data on the relationship between specific genotypes and disease phenotypes are still emerging. Although clinically and genetically distinct, ARPKD and ADPKD have shared features in their underlying molecular pathogenesis and are part of the larger family of “ciliopathies.”

Both diseases also associated with potential ethical concerns around issues such as prentatal screening, preimplantation genetic diagnosis and neonatal management (in ARPKD) and screening of asymptomatic “at risk” children (in ADPKD).

This research topic seeks to gather original research and state-of-the-art reviews that addresses the diagnostic (genetic or clinical) and management challenges presented by ARPKD or ADPKD. Contributions from a spectrum of researchers and practitioners in the areas of pediatric or adult nephrology, hepatology, transplantation, neonatology and ethics are encouraged.


Keywords: nephrology, polycystic kidney disease, PKHD1, autosomal recessive polycystic kidney disease, autosomal dominant polycystic kidney disease, ARPKD, ADPKD, end stage renal disease, ESRD, hepatology, transplantation, neonatology


Important Note: All contributions to this Research Topic must be within the scope of the section and journal to which they are submitted, as defined in their mission statements. Frontiers reserves the right to guide an out-of-scope manuscript to a more suitable section or journal at any stage of peer review.

Recent Articles

Loading..

About Frontiers Research Topics

With their unique mixes of varied contributions from Original Research to Review Articles, Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author.

Topic Editors

Loading..

Submission Deadlines

Submission closed.

Participating Journals

Loading..

Topic Editors

Loading..

Submission Deadlines

Submission closed.

Participating Journals

Loading..
Loading..

total views article views article downloads topic views

}
 
Top countries
Top referring sites
Loading..

Comments

Loading..

Add a comment

Add comment
Back to top