Pediatric Polycystic Kidney Diseases

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.”

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