ABSTRACT
Renal cysts are observed in a variety of kidney diseases. Many of these disorders are inherited as single gene defects, and some are associated with extrarenal manifestations or represent manifestations of syndromes. Dierent ages of onset, variability in kidney disease progression, and a diverse array of extrarenal manifestations help distinguish these disorders. On the whole, renal cystic disorders are relatively rare diseases, although a few, such as autosomal recessive polycystic kidney disease (ARPKD), juvenile nephronophthisis (NPHP), and hepatocyte nuclear factor-1β (HNF1B)–related renal disease, are common enough to cause considerable pediatric morbidity and mortality. In contrast, autosomal dominant polycystic kidney disease (ADPKD), one of the most common human genetic diseases, typically has relatively mild clinical manifestations during childhood. Table 43.1 provides a clinicopathologic classication of the cystic renal diseases.
