The Spectrum of Polycystic Kidney Disease in Children

Abstract

Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Autosomal Recessive PKD (ARPKD) are important inherited kidney diseases with distinct clinical features and genetics. While these diseases have classically been considered “adult” (ADPKD) or “infantile/pediatric” (ARPKD), it is now clear that both diseases can present in children and adults. ADPKD and ARPKD also share important pathophysiologic features, including cilia dysfunction. ADPKD is a systemic disease involving cysts in the kidneys and abdominal organs as well as abnormalities in the heart and vasculature. Although ADPKD typically presents in adults, ADPKD has been diagnosed in fetuses, infants, children and adolescents. The majority of children diagnosed with ADPKD are asymptomatic. Those with symptoms typically present with hypertension or gross hematuria. Routine screening for renal cysts in asymptomatic children who have a parent with ADPKD is generally not recommended. ARPKD is a disorder confined to the kidneys (polycystic kidneys) and liver (a developmental biliary lesion called congenital hepatic fibrosis). Although most children with ARPKD present in infancy with large, echogenic kidneys, a subset present later in childhood and even adulthood, primarily with complications related to the liver disease. As more ARPKD patients survive to adulthood, these liver complications are likely to become more prevalent.

Kidney Disease Progression in Autosomal Recessive Polycystic Kidney Disease

“…1 The disorder affects all CTs, with fusiform cysts progressively replacing normal parenchyma over time. This ongoing active cystogenic process is accompanied by development of tubulointerstitial fibrosis.…”

“…1 ARPKD was previously considered a uniformly fatal disease in affected newborns, but with modern neonatal care, overall mortality has improved significantly More than 70% survive beyond the newborn period and >80% of those survive beyond ten years of age. 2 ARPKD still carries significant morbidity, with over 40% of patients progressing to end-stage renal disease (ESRD) by age 15 years.…”

The Roles of Primary cilia in Polycystic Kidney Disease

“…In addition to renal cysts, renal manifestations include urinary tract infection, flank pain, hematuria, nephrolithiasis and renal failure [ 5 , 6 , 7 ]. Extra-renal cystic features are also developed in organs including the liver, pancreas, ovaries and choroid plexus.…”

Autosomal Recessive Polycystic Kidney Disease: Antenatal Diagnosis and Histopathological Correlation

“…The sonografic evaluation of the hepatic abnormalities is very important in differentiating between ARPKD and ADPKD; in fact, the presence of a polycystic kidney disease in a young patient with sonografic evidence of hepatic fibrosis or Caroli disease is highly suggestive of ARPKD. [8]…”

“…The disease specific treatments for both ARPKD and ADPKD are not yet available and the treatment in affected patients consists in identifying and limiting the renal and extra-renal clinical complications. [8]…”